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different.tsv
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GARD:0000006 ! Acromesomelic dysplasia OMIM:602875 ! acromesomelic dysplasia, Maroteaux type DOID:0080049 ! acromesomelic dysplasia
GARD:0000012 ! Hypersensitivity pneumonitis UMLS:C0002390 DOID:841 ! extrinsic allergic alveolitis,OMIM:145300 ! Hypersensitivity Pneumonitis, Familial
GARD:0000022 ! Bjornstad syndrome Orphanet:123 ! BjC6rnstad syndrome OMIM:262000 ! Bjornstad syndrome
GARD:0000022 ! Bjornstad syndrome UMLS:C0266006 OMIM:262000 ! Bjornstad syndrome
GARD:0000023 ! Blepharophimosis, ptosis, and epicanthus inversus syndrome type 1 UMLS:C2931135 MESH:C536233 ! Blepharophimosis syndrome type 1,OMIM:110100 ! blepharophimosis, ptosis, and epicanthus inversus syndrome
GARD:0000029 ! CHARGE syndrome UMLS:C0265354 OMIM:214800 ! CHARGE syndrome
GARD:0000045 ! Congenital varicella syndrome UMLS:C0343560 Orphanet:291 ! Fetal varicella syndrome
GARD:0000048 ! Mitochondrial complex IV deficiency UMLS:C0268237 OMIM:220110 ! cytochrome-c oxidase deficiency disease
GARD:0000059 ! Spinocerebellar ataxia 34 UMLS:C1851481 OMIM:133190 ! spinocerebellar ataxia type 34
GARD:0000065 ! Microcephaly, hiatal hernia and nephrotic syndrome UMLS:C0795949 DOID:0060364 ! Galloway-Mowat syndrome,OMIM:251300 ! Galloway-Mowat Syndrome
GARD:0000069 ! Hantavirus pulmonary syndrome UMLS:C0243025 DOID:14472 ! hantavirus pulmonary syndrome
GARD:0000071 ! Human granulocytic ehrlichiosis UMLS:C0483368 DOID:0050025 ! human granulocytic anaplasmosis
GARD:0000073 ! Immunodeficiency with hyper IgM type 1 OMIM:605258 ! Hyper-IgM syndrome type 2 DOID:0060022 ! CD40 ligand deficiency,OMIM:308230 ! Immunodeficiency With Hyper-Igm, Type 1
GARD:0000073 ! Immunodeficiency with hyper IgM type 1 OMIM:606843 ! Hyper-IgM syndrome type 3 DOID:0060022 ! CD40 ligand deficiency,OMIM:308230 ! Immunodeficiency With Hyper-Igm, Type 1
GARD:0000073 ! Immunodeficiency with hyper IgM type 1 OMIM:608106 ! Hyper-IgM syndrome type 5 DOID:0060022 ! CD40 ligand deficiency,OMIM:308230 ! Immunodeficiency With Hyper-Igm, Type 1
GARD:0000073 ! Immunodeficiency with hyper IgM type 1 OMIM:608184 ! Hyper-IgM syndrome type 4 DOID:0060022 ! CD40 ligand deficiency,OMIM:308230 ! Immunodeficiency With Hyper-Igm, Type 1
GARD:0000079 ! Jansen type metaphyseal chondrodysplasia UMLS:C0265295 OMIM:156400 ! Jansen's metaphyseal chondrodysplasia
GARD:0000082 ! KBG syndrome UMLS:C0220687 OMIM:148050 ! KBG syndrome
GARD:0000083 ! Kenny-Caffey syndrome type 2 Orphanet:93325 ! Autosomal dominant Kenny-Caffey syndrome OMIM:127000 ! Kenny-Caffey Syndrome, Type 2
GARD:0000083 ! Kenny-Caffey syndrome type 2 UMLS:C0265291 OMIM:127000 ! Kenny-Caffey Syndrome, Type 2
GARD:0000084 ! Congenital generalized lipodystrophy type 1 UMLS:C1720862 OMIM:608594 ! Lipodystrophy, Congenital Generalized, Type 1
GARD:0000092 ! Meleda disease UMLS:C0025221 OMIM:248300 ! Mal de Meleda
GARD:0000093 ! Monilethrix OMIM:252200 OMIM:158000 ! monilethrix
GARD:0000093 ! Monilethrix UMLS:C0546966 OMIM:158000 ! monilethrix
GARD:0000095 ! Mulibrey Nanism UMLS:C0524582 OMIM:253250 ! mulibrey nanism
GARD:0000102 ! Neu Laxova syndrome UMLS:C0265218 DC:0000672 ! Neu-Laxova Syndrome,OMIM:256520 ! Neu-Laxova syndrome 1
GARD:0000104 ! Ochoa syndrome UMLS:C0403555 DOID:0050816 ! urofacial syndrome,OMIM:236730 ! Urofacial Syndrome 1
GARD:0000105 ! Oculocerebral syndrome with hypopigmentation Orphanet:2719 ! Oculocerebral hypopigmentation syndrome, Cross type OMIM:257800 ! Oculocerebral Syndrome With Hypopigmentation
GARD:0000108 ! Polyglucosan body disease, adult UMLS:C1849722 OMIM:263570 ! Polyglucosan Body Neuropathy, Adult Form,Orphanet:206583 ! Adult polyglucosan body disease
GARD:0000114 ! X-linked Charcot-Marie-Tooth disease type 5 UMLS:C1839566 Orphanet:99014 ! X-linked Charcot-Marie-Tooth disease type 5
GARD:0000116 ! Schindler disease type 1 Orphanet:79279 ! Alpha-N-acetylgalactosaminidase deficiency type 1 OMIM:609241 ! Schindler Disease, Type 1
GARD:0000116 ! Schindler disease type 1 UMLS:C1836544 OMIM:609241 ! Schindler Disease, Type 1
GARD:0000120 ! Sennetsu Fever UMLS:C0520779 DOID:0050485 ! sennetsu fever
GARD:0000121 ! Facial ectodermal dysplasia Orphanet:1807 ! Focal facial dermal dysplasia type III MESH:C536385 ! Facial ectodermal dysplasia,OMIM:227260 ! Focal Facial Dermal Dysplasia 3, Setleis Type
GARD:0000121 ! Facial ectodermal dysplasia UMLS:C1744559 MESH:C536385 ! Facial ectodermal dysplasia,OMIM:227260 ! Focal Facial Dermal Dysplasia 3, Setleis Type
GARD:0000122 ! Singleton Merten syndrome OMIM:182250 ! Singleton-Merten Syndrome 1 DC:0000703 ! Singleton-Merten Syndrome
GARD:0000122 ! Singleton Merten syndrome Orphanet:85191 ! Singleton-Merten dysplasia DC:0000703 ! Singleton-Merten Syndrome
GARD:0000122 ! Singleton Merten syndrome UMLS:C0432254 DC:0000703 ! Singleton-Merten Syndrome
GARD:0000125 ! Acrokeratoelastoidosis of Costa UMLS:C0545044 OMIM:101850 ! punctate palmoplantar keratoderma type III
GARD:0000130 ! Florid cystic endosalpingiosis of the uterus UMLS:C2931410 MESH:C537064 ! Florid cystic endosalpingiosis of the uterus
GARD:0000131 ! Myeloid sarcoma UMLS:C0152276 DOID:8683 ! myeloid sarcoma
GARD:0000133 ! Aganglionosis, total intestinal Orphanet:99740 DOID:10487 ! Hirschsprung's disease,OMIM:202550 ! Aganglionosis, Total Intestinal
GARD:0000134 ! Spondyloepimetaphyseal dysplasia Strudwick type Orphanet:93346 ! Spondyloepimetaphyseal dysplasia congenita, Strudwick type OMIM:184250 ! spondyloepimetaphyseal dysplasia, Strudwick type
GARD:0000136 ! Dextrocardia with unusual facies and microphthalmia UMLS:C1857298 OMIM:221950 ! Dextrocardia With Unusual Facies and Microphthalmia
GARD:0000143 ! Hairy elbows Orphanet:2220 ! Hypertrichosis cubiti - short stature OMIM:139600 ! Hairy Elbows
GARD:0000144 ! Mac Dermot Winter syndrome Orphanet:2083 ! Prominent glabella - microcephaly - hypogenitalism OMIM:247990 ! Macdermot-Winter Syndrome
GARD:0000144 ! Mac Dermot Winter syndrome UMLS:C0796024 OMIM:247990 ! Macdermot-Winter Syndrome
GARD:0000147 ! Macrocephaly, benign familial UMLS:C0220690 OMIM:153470 ! Macrocephaly, Benign Familial
GARD:0000148 ! Mental retardation, macrocephaly, short stature and craniofacial dysmorphism OMIM:248000 ! Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive MESH:C537453 ! Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
GARD:0000148 ! Mental retardation, macrocephaly, short stature and craniofacial dysmorphism UMLS:C2931497 MESH:C537453 ! Mental retardation, macrocephaly, short stature and craniofacial dysmorphism
GARD:0000149 ! Prostatic malacoplakia associated with prostatic abscess UMLS:C2931457 MESH:C537244 ! Prostatic malacoplakia associated with prostatic abscess
GARD:0000151 ! Samson Gardner syndrome UMLS:C2931448 MESH:C537230 ! Samson Gardner syndrome
GARD:0000152 ! Samson Viljoen syndrome UMLS:C2931449 MESH:C537231 ! Samson Viljoen syndrome
GARD:0000153 ! Sanderson Fraser syndrome UMLS:C2931450 MESH:C537232 ! Sanderson Fraser syndrome
GARD:0000154 ! Sandhaus Ben-Ami syndrome UMLS:C2931451 MESH:C537233 ! Sandhaus Ben-Ami syndrome
GARD:0000160 ! Satoyoshi syndrome Orphanet:3130 OMIM:600705 ! Satoyoshi Syndrome
GARD:0000160 ! Satoyoshi syndrome UMLS:C1833454 OMIM:600705 ! Satoyoshi Syndrome
GARD:0000161 ! Saul Wilkes Stevenson syndrome UMLS:C2931266 MESH:C536617 ! Saul Wilkes Stevenson syndrome
GARD:0000162 ! Say syndrome Orphanet:2013 ! Cleft palate - large ears - small head OMIM:181180 ! Say Syndrome
GARD:0000162 ! Say syndrome UMLS:C1867023 OMIM:181180 ! Say Syndrome
GARD:0000169 ! Schneckenbecken dysplasia UMLS:C0432194 OMIM:269250 ! schneckenbecken dysplasia
GARD:0000170 ! Macrocephaly mesodermal hamartoma spectrum OMIM:176920 ! Proteus syndrome MESH:C537716 ! Macrocephaly mesodermal hamartoma spectrum
GARD:0000170 ! Macrocephaly mesodermal hamartoma spectrum UMLS:C1867610 MESH:C537716 ! Macrocephaly mesodermal hamartoma spectrum
GARD:0000171 ! Le Marec Bracq Picaud syndrome UMLS:C2931385 MESH:C536997 ! Le Marec Bracq Picaud syndrome
GARD:0000172 ! Macrocephaly, mental retardation, short stature, spastic paraplegia and CNS malformations UMLS:C2931595 MESH:C537718 ! Volcke Soekarman syndrome
GARD:0000174 ! Macrogyria, pseudobulbar palsy and mental retardation UMLS:C2931598 MESH:C537722 ! Macrogyria, pseudobulbar palsy and mental retardation
GARD:0000177 ! Macrosomia with lethal microphthalmia Orphanet:2432 ! Macrosomia - microphthalmia - cleft palate OMIM:248110 ! Macrosomia With Microphthalmia, Lethal
GARD:0000177 ! Macrosomia with lethal microphthalmia UMLS:C1855467 OMIM:248110 ! Macrosomia With Microphthalmia, Lethal
GARD:0000181 ! Stargardt disease UMLS:C0271093 DOID:0050817 ! Stargardt disease,OMIM:248200 ! Stargardt Disease 1
GARD:0000183 ! Bubonic plague UMLS:C0282312 DOID:10773 ! bubonic plague
GARD:0000184 ! Yellow nail syndrome UMLS:C0221348 OMIM:153300 ! yellow nail syndrome
GARD:0000185 ! Y chromosome infertility OMIM:400003 MESH:C580551 ! Y Chromosome Infertility
GARD:0000188 ! N acetyltransferase deficiency OMIM:108345 MESH:C536107 ! N acetyltransferase deficiency
GARD:0000188 ! N acetyltransferase deficiency UMLS:C2931113 MESH:C536107 ! N acetyltransferase deficiency
GARD:0000189 ! Elliott Ludman Teebi syndrome UMLS:C2931128 MESH:C536204 ! Elliott Ludman Teebi syndrome
GARD:0000191 ! Kashani Strom Utley syndrome UMLS:C2931392 MESH:C537010 ! Kashani Strom Utley syndrome
GARD:0000192 ! Karandikar Maria Kamble syndrome UMLS:C2931391 MESH:C537009 ! Karandikar Maria Kamble syndrome
GARD:0000194 ! Gamma aminobutyric acid transaminase deficiency OMIM:137150 DOID:0060174 ! GABA aminotransferase deficiency,OMIM:613163 ! Gaba-Transaminase Deficiency
GARD:0000194 ! Gamma aminobutyric acid transaminase deficiency UMLS:C0342708 DOID:0060174 ! GABA aminotransferase deficiency,OMIM:613163 ! Gaba-Transaminase Deficiency
GARD:0000196 ! St Anthony's fire UMLS:C0014714 MESH:D004881 ! Ergotism
GARD:0000198 ! Spinal muscular atrophy type 3 UMLS:C0152109 OMIM:253400 ! juvenile spinal muscular atrophy,Orphanet:83419 ! Proximal spinal muscular atrophy type 3
GARD:0000200 ! Central serous chorioretinopathy UMLS:C0730328 MESH:D056833 ! Central Serous Chorioretinopathy
GARD:0000204 ! Dieterich's disease UMLS:C2931124 MESH:C536172 ! Dieterich's disease
GARD:0000208 ! Giant mammary hamartoma UMLS:C2931343 MESH:C536818 ! Giant mammary hamartoma
GARD:0000210 ! Ruzicka Goerz Anton syndrome UMLS:C2931438 MESH:C537192 ! Ruzicka Goerz Anton syndrome
GARD:0000212 ! Rutherfurd syndrome Orphanet:2709 ! Oculodental syndrome, Rutherfurd type OMIM:180900 ! Rutherfurd Syndrome
GARD:0000212 ! Rutherfurd syndrome UMLS:C0796140 OMIM:180900 ! Rutherfurd Syndrome
GARD:0000215 ! Rudd Klimek syndrome UMLS:C2931053 Orphanet:1768 ! Familial caudal dysgenesis
GARD:0000216 ! Rozin Hertz Goodman syndrome Orphanet:1323 OMIM:602612 ! Camptodactyly, Myopia, and Fibrosis of the Medial Rectus Muscle of Eye
GARD:0000217 ! Roy Maroteaux Kremp syndrome UMLS:C1855164 OMIM:250500 ! Metaphyseal Modeling Abnormality, Skin Lesions, and Spastic Paraplegia
GARD:0000220 ! Peripartum cardiomyopathy UMLS:C0877208 DOID:9997 ! peripartum cardiomyopathy,OMIM:614670 ! Peripartum Cardiomyopathy, Susceptibility to
GARD:0000229 ! Gomez Lopez Hernandez syndrome Orphanet:1532 ! GC3mez-LC3pez-Hern OMIM:601853 ! Cerebellotrigeminal Dermal Dysplasia
GARD:0000229 ! Gomez Lopez Hernandez syndrome UMLS:C0795959 OMIM:601853 ! Cerebellotrigeminal Dermal Dysplasia
GARD:0000230 ! Microcephaly deafness syndrome Orphanet:2533 ! Microcephaly - deafness - intellectual disability OMIM:156620 ! Microcephaly-Deafness Syndrome
GARD:0000230 ! Microcephaly deafness syndrome UMLS:C0796062 OMIM:156620 ! Microcephaly-Deafness Syndrome
GARD:0000231 ! Leukoencephalopathy with vanishing white matter Orphanet:135 ! CACH syndrome OMIM:603896 ! Leukoencephalopathy With Vanishing White Matter
GARD:0000232 ! Medullary sponge kidney OMIM:174000 ! Medullary Cystic Kidney Disease 1 Orphanet:1309 ! Medullary sponge kidney
GARD:0000238 ! Odontoma dysphagia syndrome Orphanet:2724 ! Odontomatosis - aortae esophagus stenosis OMIM:164330 ! Odontoma-Dysphagia Syndrome
GARD:0000238 ! Odontoma dysphagia syndrome UMLS:C1834013 OMIM:164330 ! Odontoma-Dysphagia Syndrome
GARD:0000243 ! Say Meyer syndrome UMLS:C1839125 MESH:C536620 ! Say Meyer syndrome,OMIM:314320 ! Trigonocephaly - short stature - developmental delay
GARD:0000248 ! Schaap Taylor Baraitser syndrome UMLS:C2931269 MESH:C536626 ! Schaap Taylor Baraitser syndrome
GARD:0000249 ! Schaefer Stein Oshman syndrome OMIM:122860 ! Craniodiaphyseal Dysplasia, Autosomal Dominant MESH:C536627 ! Schaefer Stein Oshman syndrome
GARD:0000249 ! Schaefer Stein Oshman syndrome UMLS:C2931270 MESH:C536627 ! Schaefer Stein Oshman syndrome
GARD:0000251 ! Charcot-Marie-Tooth disease with ptosis and parkinsonism MeSH:C538079 OMIM:118301 ! Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism
GARD:0000251 ! Charcot-Marie-Tooth disease with ptosis and parkinsonism UMLS:C1861668 OMIM:118301 ! Charcot-Marie-Tooth Disease With Ptosis and Parkinsonism
GARD:0000253 ! Schwartz Cohen-Addad Lambert syndrome UMLS:C2931036 MESH:C535835 ! Schwartz Cohen-Addad Lambert syndrome
GARD:0000255 ! Schlegelberger Grote syndrome UMLS:C2931273 MESH:C536635 ! Schlegelberger Grote syndrome
GARD:0000256 ! Schrander-Stumpel Theunissen Hulsmans syndrome UMLS:C2931275 MESH:C536639 ! Schrander-Stumpel Theunissen Hulsmans syndrome
GARD:0000257 ! Scholte syndrome UMLS:C1866985 OMIM:181515 ! Scholte Syndrome
GARD:0000259 ! Diabetes insipidus nephrogenic mental retardation and intracerebral calcification Orphanet:3145 ! Nephrogenic diabetes insipidus - intracranial calcification OMIM:221995 ! Diabetes Insipidus, Nephrogenic, With Mental Retardation and Intracerebral Calcification
GARD:0000270 ! Nicolaides-Baraitser syndrome Orphanet:3051 ! intellectual disability - sparse hair - brachydactyly OMIM:601358 ! Nicolaides-Baraitser Syndrome
GARD:0000270 ! Nicolaides-Baraitser syndrome UMLS:C1303073 OMIM:601358 ! Nicolaides-Baraitser Syndrome
GARD:0000272 ! VACTERL hydrocephaly OMIM:276950 ! Vacterl Association With Hydrocephalus MESH:C536521 ! VACTERL hydrocephaly
GARD:0000272 ! VACTERL hydrocephaly UMLS:C2931229 MESH:C536521 ! VACTERL hydrocephaly
GARD:0000275 ! Serpentine fibula polycystic kidney syndrome OMIM:600330 OMIM:102500 ! Hajdu-Cheney syndrome
GARD:0000275 ! Serpentine fibula polycystic kidney syndrome Orphanet:2853 OMIM:102500 ! Hajdu-Cheney syndrome
GARD:0000275 ! Serpentine fibula polycystic kidney syndrome UMLS:C1838257 OMIM:102500 ! Hajdu-Cheney syndrome
GARD:0000276 ! Eunuchoidism familial hypogonadotropic OMIM:227200 OMIM:614841 ! Hypogonadotropic Hypogonadism 12 With or Without Anosmia
GARD:0000276 ! Eunuchoidism familial hypogonadotropic Orphanet:1958 OMIM:614841 ! Hypogonadotropic Hypogonadism 12 With or Without Anosmia
GARD:0000276 ! Eunuchoidism familial hypogonadotropic UMLS:C1856897 OMIM:614841 ! Hypogonadotropic Hypogonadism 12 With or Without Anosmia
GARD:0000277 ! Pilodental dysplasia with refractive errors UMLS:C1849805 OMIM:262020 ! Pilodental dysplasia - refractive errors
GARD:0000280 ! Halal Setton Wang syndrome UMLS:C2930953 Orphanet:1809 ! Hidrotic ectodermal dysplasia, Halal type
GARD:0000284 ! Irons Bhan syndrome OMIM:601927 ! Lymphedema, Cardiac Septal Defects, and Characteristic Facies MESH:C535539 ! Irons Bhan syndrome
GARD:0000284 ! Irons Bhan syndrome UMLS:C2930926 MESH:C535539 ! Irons Bhan syndrome
GARD:0000288 ! Hallermann-Streiff syndrome UMLS:C0018522 OMIM:234100 ! Hallermann-Streiff syndrome
GARD:0000290 ! Dennis Fairhurst Moore syndrome OMIM:234100 ! Hallermann-Streiff syndrome MESH:C538210 ! Dennis Fairhurst Moore syndrome
GARD:0000290 ! Dennis Fairhurst Moore syndrome UMLS:C2931775 MESH:C538210 ! Dennis Fairhurst Moore syndrome
GARD:0000291 ! Spasticity multiple exostoses UMLS:C1834724 OMIM:158345 ! Multiple Exostoses With Spastic Tetraparesis
GARD:0000293 ! Rodrigues blindness UMLS:C1849332 OMIM:268320 ! Rodrigues Blindness
GARD:0000295 ! Nevo syndrome OMIM:601451 OMIM:225400 ! Ehlers-Danlos syndrome, kyphoscoliotic type
GARD:0000295 ! Nevo syndrome Orphanet:2691 OMIM:225400 ! Ehlers-Danlos syndrome, kyphoscoliotic type
GARD:0000296 ! Lopes Gorlin syndrome OMIM:600269 ! Short tarsus - absence of lower eyelashes MESH:C537036 ! Lopes Gorlin syndrome
GARD:0000296 ! Lopes Gorlin syndrome Orphanet:2832 MESH:C537036 ! Lopes Gorlin syndrome
GARD:0000296 ! Lopes Gorlin syndrome UMLS:C1838328 MESH:C537036 ! Lopes Gorlin syndrome
GARD:0000299 ! Epidermolysis bullosa, late-onset localized junctional, with mental retardation UMLS:C1856969 OMIM:226440 ! Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
GARD:0000301 ! Generalized resistance to thyroid hormone OMIM:190160 OMIM:188570 ! Thyroid Hormone Resistance, Generalized, Autosomal Dominant,OMIM:274300 ! Thyroid Hormone Resistance, Generalized, Autosomal Recessive,Orphanet:3221 ! Generalized resistance to thyroid hormone
GARD:0000301 ! Generalized resistance to thyroid hormone UMLS:C0242604 OMIM:188570 ! Thyroid Hormone Resistance, Generalized, Autosomal Dominant,OMIM:274300 ! Thyroid Hormone Resistance, Generalized, Autosomal Recessive,Orphanet:3221 ! Generalized resistance to thyroid hormone
GARD:0000303 ! Jeune syndrome situs inversus UMLS:C2931535 MESH:C537572 ! Jeune syndrome situs inversus
GARD:0000304 ! Blau syndrome UMLS:C1861303 OMIM:186580 ! Blau syndrome
GARD:0000306 ! Camptodactyly arthropathy coxa vara pericarditis syndrome Orphanet:171881 ! Cap myopathy OMIM:208250 ! Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
GARD:0000306 ! Camptodactyly arthropathy coxa vara pericarditis syndrome UMLS:C1859690 OMIM:208250 ! Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
GARD:0000309 ! Fibromatosis multiple non ossifying UMLS:C0796000 Orphanet:2029 ! Multiple non-ossifying fibromatosis
GARD:0000310 ! Zunich neuroectodermal syndrome UMLS:C1848392 OMIM:280000 ! CHIME syndrome
GARD:0000311 ! Saal Bulas syndrome UMLS:C2931439 MESH:C537193 ! Saal Bulas syndrome
GARD:0000312 ! Robinow syndrome OMIM:268310 ! Autosomal recessive Robinow syndrome DOID:0060254 ! Robinow syndrome
GARD:0000312 ! Robinow syndrome UMLS:C0265205 DOID:0060254 ! Robinow syndrome
GARD:0000313 ! Sabinas brittle hair syndrome UMLS:C0796271 OMIM:211390 ! Sabinas Brittle Hair Syndrome
GARD:0000315 ! Sackey Sakati Aur syndrome UMLS:C2931442 MESH:C537219 ! Sackey Sakati Aur syndrome
GARD:0000317 ! Sacral hemangiomas multiple congenital abnormalities UMLS:C2931443 MESH:C537222 ! Sacral hemangiomas multiple congenital abnormalities
GARD:0000322 ! Senior Loken Syndrome UMLS:C0403553 DOID:0050576 ! Senior-Loken syndrome,OMIM:266900 ! Senior-Loken Syndrome 1
GARD:0000324 ! Slti Salem syndrome UMLS:C2931284 MESH:C536673 ! Slti Salem syndrome
GARD:0000325 ! Twin twin transfusion syndrome UMLS:C2931934 DOID:13576 ! twin-to-twin transfusion syndrome
GARD:0000328 ! Wandering spleen UMLS:C0272414 MESH:D050805 ! Wandering Spleen
GARD:0000332 ! Beare-Stevenson cutis gyrata syndrome Orphanet:1555 ! Cutis gyrata - acanthosis nigricans - craniosynostosis OMIM:123790 ! Beare-Stevenson cutis gyrata syndrome
GARD:0000332 ! Beare-Stevenson cutis gyrata syndrome UMLS:C1852406 OMIM:123790 ! Beare-Stevenson cutis gyrata syndrome
GARD:0000334 ! Dyschromatosis symmetrica hereditaria 1 UMLS:C0406775 OMIM:127400 ! dyschromatosis symmetrica hereditaria
GARD:0000335 ! ABCD syndrome Orphanet:918 OMIM:600501 ! ABCD syndrome
GARD:0000335 ! ABCD syndrome UMLS:C1838099 OMIM:600501 ! ABCD syndrome
GARD:0000336 ! Spastic paraplegia 23 Orphanet:101003 ! Autosomal recessive spastic paraplegia type 23 OMIM:270750 ! Spastic Paraplegia 23
GARD:0000336 ! Spastic paraplegia 23 UMLS:C0796019 OMIM:270750 ! Spastic Paraplegia 23
GARD:0000338 ! Zerres Rietschel Majewski syndrome UMLS:C2931301 MESH:C536724 ! Zerres Rietschel Majewski syndrome
GARD:0000339 ! Zazam Sheriff Phillips syndrome UMLS:C2931300 MESH:C536723 ! Zazam Sheriff Phillips syndrome
GARD:0000340 ! Zadik Barak Levin syndrome UMLS:C2931298 MESH:C536721 ! Zadik Barak Levin syndrome
GARD:0000343 ! Pontocerebellar hypoplasia type 4 UMLS:C1856974 OMIM:225753 ! pontocerebellar hypoplasia type 4
GARD:0000344 ! Pseudotrisomy 13 syndrome Orphanet:2166 ! Holoprosencephaly - postaxial polydactyly OMIM:264480 ! Pseudotrisomy 13 Syndrome
GARD:0000344 ! Pseudotrisomy 13 syndrome UMLS:C1849649 OMIM:264480 ! Pseudotrisomy 13 Syndrome
GARD:0000345 ! X-linked intellectual disability - short stature b obesity UMLS:C0796264 MESH:C536715 ! Young Hughes syndrome,Orphanet:3055 ! X-linked intellectual disability - short stature - obesity
GARD:0000346 ! Hoyeraal Hreidarsson syndrome OMIM:300240 OMIM:305000 ! Hoyeraal-Hreidarsson syndrome
GARD:0000347 ! Yorifuji Okuno syndrome Orphanet:2255 ! Pancreatic hypoplasia - diabetes - congenital heart disease MESH:C536714 ! Yorifuji Okuno syndrome,OMIM:600001 ! Heart Defects, Congenital, and Other Congenital Anomalies
GARD:0000349 ! Neuroaxonal dystrophy renal tubular acidosis UMLS:C2931479 MESH:C537386 ! Neuroaxonal dystrophy renal tubular acidosis
GARD:0000350 ! Gurrieri syndrome Orphanet:1858 ! Skeletal dysplasia - epilepsy - short stature OMIM:601187 ! Gurrieri Syndrome
GARD:0000350 ! Gurrieri syndrome UMLS:C0796046 OMIM:601187 ! Gurrieri Syndrome
GARD:0000353 ! Kozlowski Warren Fisher syndrome UMLS:C2931546 MESH:C537614 ! Kozlowski Warren Fisher syndrome
GARD:0000354 ! Osteopenia and sparse hair Orphanet:2324 ! Kaler-Garrity-Stern syndrome OMIM:259690 ! Osteopenia and Sparse Hair
GARD:0000354 ! Osteopenia and sparse hair UMLS:C1850140 OMIM:259690 ! Osteopenia and Sparse Hair
GARD:0000359 ! Cranioectodermal dysplasia UMLS:C0432235 DOID:0050577 ! Sensenbrenner syndrome
GARD:0000361 ! Acalvaria OMIM:206500 ! Anencephaly Orphanet:945 ! Acalvaria
GARD:0000363 ! Acatalasemia OMIM:115500 OMIM:614097 ! acatalasia
GARD:0000366 ! Arnold Stickler Bourne syndrome UMLS:C2931492 MESH:C537431 ! Arnold Stickler Bourne syndrome
GARD:0000368 ! Laryngoonychocutaneous syndrome Orphanet:2407 ! LOC syndrome OMIM:245660 ! Laryngoonychocutaneous Syndrome
GARD:0000368 ! Laryngoonychocutaneous syndrome UMLS:C1328355 OMIM:245660 ! Laryngoonychocutaneous Syndrome
GARD:0000369 ! Ayazi syndrome UMLS:C1844836 Orphanet:1435 ! Choroideremia - deafness - obesity
GARD:0000370 ! Aagenaes syndrome UMLS:C0268314 OMIM:214900 ! Aagenaes syndrome
GARD:0000371 ! Qazi Markouizos syndrome UMLS:C2931142 DOID:0050740 ! Qazi Markouizos syndrome
GARD:0000374 ! Zori Stalker Williams syndrome OMIM:600399 ! Pectus Excavatum, Macrocephaly, Short Stature, and Dysplastic Nails MESH:C536728 ! Zori Stalker Williams syndrome
GARD:0000374 ! Zori Stalker Williams syndrome UMLS:C2931302 MESH:C536728 ! Zori Stalker Williams syndrome
GARD:0000375 ! Zlotogora syndrome OMIM:225000 ! Rosselli-Gulienetti syndrome OMIM:225060 ! Zlotogora-Ogur syndrome,Orphanet:320317 ! Cleft lip/palate - ectodermal dysplasia
GARD:0000376 ! Acheiropody UMLS:C0265559 OMIM:200500 ! acheiropody
GARD:0000377 ! Adactylia unilateral Orphanet:973 ! Congenital absence/hypoplasia of fingers excluding thumb, unilateral OMIM:102650 ! Adactylia, Unilateral
GARD:0000377 ! Adactylia unilateral UMLS:C0220660 OMIM:102650 ! Adactylia, Unilateral
GARD:0000381 ! Kosztolanyi syndrome Orphanet:1129 ! Arachnodactyly - abnormal ossification - intellectual disability MESH:C537024 ! Kosztolanyi syndrome
GARD:0000381 ! Kosztolanyi syndrome UMLS:C2931398 MESH:C537024 ! Kosztolanyi syndrome
GARD:0000383 ! Osteopetrosis autosomal dominant type 2 Orphanet:53 ! Albers-SchC6nberg osteopetrosis OMIM:166600 ! Osteopetrosis, Autosomal Dominant 2
GARD:0000383 ! Osteopetrosis autosomal dominant type 2 UMLS:C0029454 OMIM:166600 ! Osteopetrosis, Autosomal Dominant 2
GARD:0000384 ! ADULT syndrome UMLS:C1863204 OMIM:103285 ! ADULT syndrome
GARD:0000385 ! Laband syndrome UMLS:C0796013 DC:0000708 ! Zimmermann-Laband Syndrome,OMIM:135500 ! Zimmermann-Laband Syndrome 1
GARD:0000387 ! ZAP-70 deficiency OMIM:176947 Orphanet:911 ! Combined immunodeficiency due to ZAP70 deficiency
GARD:0000387 ! ZAP-70 deficiency UMLS:C2931299 Orphanet:911 ! Combined immunodeficiency due to ZAP70 deficiency
GARD:0000388 ! Brachial amelia, forebrain defects and facial clefts UMLS:C1832434 OMIM:601357 ! Brachial Amelia, Cleft Lip, and Holoprosencephaly
GARD:0000392 ! Weinstein Kliman Scully syndrome UMLS:C2931289 MESH:C536688 ! Weinstein Kliman Scully syndrome
GARD:0000393 ! Tungiasis UMLS:C0277356 DOID:0050266 ! tungiasis
GARD:0000394 ! Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation Orphanet:3268 ! Synostosis - microcephaly - scoliosis OMIM:603438 ! Radioulnar Synostosis With Microcephaly, Short Stature, Scoliosis, and Mental Retardation
GARD:0000394 ! Radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation UMLS:C1863881 OMIM:603438 ! Radioulnar Synostosis With Microcephaly, Short Stature, Scoliosis, and Mental Retardation
GARD:0000395 ! Retinal degeneration with nanophthalmos, cystic macular degeneration, and angle closure glaucoma Orphanet:1574 ! Retinal degeneration - nanophthalmos - glaucoma OMIM:267760 ! Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, and Angle Closure Glaucoma
GARD:0000396 ! Tularemia UMLS:C0041351 DOID:2123 ! tularemia
GARD:0000398 ! Bagatelle Cassidy syndrome UMLS:C2931616 MESH:C537796 ! Bagatelle Cassidy syndrome
GARD:0000399 ! 46,XX testicular disorder of sex development UMLS:C0022735 OMIM:400045 ! 46,Xx Sex Reversal 1,Orphanet:393 ! 46,XX testicular disorder of sex development
GARD:0000402 ! Autosomal dominant optic atrophy, hearing loss, and peripheral neuropathy Orphanet:1215 ! Autosomal dominant optic atrophy plus syndrome OMIM:165199 ! Optic Atrophy, Hearing Loss, and Peripheral Neuropathy, Autosomal Dominant
GARD:0000405 ! Subaortic stenosis short stature syndrome UMLS:C0795947 OMIM:271960 ! Subaortic stenosis - short stature
GARD:0000406 ! O Donnell Pappas syndrome UMLS:C2931644 Orphanet:2253 ! Foveal hypoplasia - presenile cataract
GARD:0000408 ! Kowarski syndrome Orphanet:629 ! Short stature due to growth hormone qualitative anomaly OMIM:262650 ! Kowarski Syndrome
GARD:0000408 ! Kowarski syndrome UMLS:C1849779 OMIM:262650 ! Kowarski Syndrome
GARD:0000411 ! Hypoparathyroidism-retardation-dysmorphism syndrome UMLS:C1855840 OMIM:241410 ! hypoparathyroidism-retardation-dysmorphism syndrome
GARD:0000414 ! Bamforth syndrome UMLS:C1855794 MESH:C537901 ! Bamforth syndrome,OMIM:241850 ! Bamforth-Lazarus syndrome
GARD:0000415 ! Pseudoprogeria syndrome UMLS:C0796125 OMIM:200130 ! Pseudoprogeria syndrome
GARD:0000417 ! Aloi Tomasini Isaia syndrome UMLS:C2931405 MESH:C537049 ! Aloi Tomasini Isaia syndrome
GARD:0000420 ! Turcot syndrome UMLS:C0265325 OMIM:276300 ! Mismatch Repair Cancer Syndrome
GARD:0000422 ! Tunglang Savage Bellman syndrome UMLS:C2931369 Orphanet:3225 ! Hearing loss - familial salivary gland insensitivity to aldosterone
GARD:0000427 ! Tucker syndrome UMLS:C1860403 OMIM:193240 ! Ptosis - vocal cord paralysis
GARD:0000431 ! Microtia-Anotia UMLS:C1833486 OMIM:600674 ! Microtia-Anotia
GARD:0000432 ! Arbovirosis Orphanet:3413 Orphanet:344 ! Arbovirus fever
GARD:0000433 ! Apparent mineralocorticoid excess UMLS:C2936861 OMIM:218030 ! apparent mineralocorticoid excess syndrome
GARD:0000434 ! Hydrocephalus due to congenital stenosis of aqueduct of sylvius Orphanet:2182 ! Hydrocephalus with stenosis of the aqueduct of Sylvius OMIM:236635 ! Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius,OMIM:307000 ! Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
GARD:0000434 ! Hydrocephalus due to congenital stenosis of aqueduct of sylvius UMLS:C0265216 OMIM:236635 ! Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius,OMIM:307000 ! Hydrocephalus Due to Congenital Stenosis of Aqueduct of Sylvius
GARD:0000435 ! Ausems Wittebol-Post Hennekam syndrome Orphanet:1995 ! Cleft lip - retinopathy MESH:C538272 ! Ausems Wittebol-Post Hennekam syndrome
GARD:0000435 ! Ausems Wittebol-Post Hennekam syndrome UMLS:C2931789 MESH:C538272 ! Ausems Wittebol-Post Hennekam syndrome
GARD:0000436 ! Adult-onset Still's disease UMLS:C0085253 DOID:14256 ! adult-onset Still's disease
GARD:0000438 ! Limb-girdle muscular dystrophy, type 2D Orphanet:62 ! Autosomal recessive limb-girdle muscular dystrophy type 2D OMIM:608099 ! Muscular Dystrophy, Limb-Girdle, Type 2D
GARD:0000438 ! Limb-girdle muscular dystrophy, type 2D UMLS:C1842550 OMIM:608099 ! Muscular Dystrophy, Limb-Girdle, Type 2D
GARD:0000439 ! Abdominal cystic lymphangioma UMLS:C2930929 MESH:C535553 ! Abdominal cystic lymphangioma
GARD:0000448 ! Vici syndrome UMLS:C1855772 OMIM:242840 ! Vici syndrome
GARD:0000453 ! Acanthosis nigricans muscle cramps acral enlargement UMLS:C1860215 OMIM:200170 ! Acanthosis Nigricans With Muscle Cramps and Acral Enlargement
GARD:0000455 ! Achalasia, familial esophageal UMLS:C1860213 MESH:D004931 ! Esophageal Achalasia,OMIM:200400 ! achalasia
GARD:0000456 ! Achalasia microcephaly syndrome UMLS:C1860212 OMIM:200450 ! achalasia microcephaly syndrome
GARD:0000458 ! Spondylometaphyseal dysplasia type A4 UMLS:C1836862 OMIM:609052 ! Spondylometaphyseal dysplasia, A4 type
GARD:0000463 ! Achondroplasia and Swiss type agammaglobulinemia OMIM:200900 ! Short-limb skeletal dysplasia with severe combined immunodeficiency MESH:C536020 ! Achondroplasia and Swiss type agammaglobulinemia
GARD:0000463 ! Achondroplasia and Swiss type agammaglobulinemia UMLS:C2931087 MESH:C536020 ! Achondroplasia and Swiss type agammaglobulinemia
GARD:0000465 ! Isovaleric acidemia UMLS:C0268575 OMIM:243500 ! isovaleric acidemia
GARD:0000468 ! Acitretin embryopathy UMLS:C2931755 MESH:C538169 ! Acitretin embryopathy
GARD:0000475 ! Acquired hypoprothrombinemia OMIM:176930 MESH:C538174 ! Acquired hypoprothrombinemia
GARD:0000475 ! Acquired hypoprothrombinemia Orphanet:26348 ! Acquired prothrombin deficiency MESH:C538174 ! Acquired hypoprothrombinemia
GARD:0000475 ! Acquired hypoprothrombinemia UMLS:C0392610 MESH:C538174 ! Acquired hypoprothrombinemia
GARD:0000476 ! Ichthyosis, acquired UMLS:C0263386 Orphanet:454 ! Acquired ichthyosis
GARD:0000484 ! Acrofrontofacionasal dysostosis syndrome UMLS:C1860118 DOID:0060226 ! acrofrontofacionasal dysostosis,OMIM:201180 ! Acrofrontofacionasal Dysostosis 1
GARD:0000486 ! Acrocephalopolydactyly OMIM:101120 ! Sakati-Nyhan syndrome Orphanet:221054 ! Acrocephalopolydactyly
GARD:0000491 ! Acrodysplasia scoliosis Orphanet:2956 ! Prata-Liberal-Goncalves syndrome MESH:C538180 ! Acrodysplasia scoliosis
GARD:0000491 ! Acrodysplasia scoliosis UMLS:C2931761 MESH:C538180 ! Acrodysplasia scoliosis
GARD:0000496 ! Acrofacial dysostosis Rodriguez type Orphanet:1788 ! Acrofacial dysostosis, RodrC-guez type OMIM:201170 ! acrofacial dysostosis Rodriguez type
GARD:0000496 ! Acrofacial dysostosis Rodriguez type UMLS:C1860119 OMIM:201170 ! acrofacial dysostosis Rodriguez type
GARD:0000498 ! Nager acrofacial dysostosis UMLS:C0265245 OMIM:154400 ! Nager acrofacial dysostosis
GARD:0000500 ! Acromegaloid changes, cutis verticis gyrata and corneal leukoma UMLS:C1321495 OMIM:102100 ! Acromegaloid Changes, Cutis Verticis Gyrata, and Corneal Leukoma
GARD:0000505 ! Acromesomelic dysplasia Campailla Martinelli type UMLS:C2930969 MESH:C535659 ! Acromesomelic dysplasia Campailla-Martinelli type
GARD:0000506 ! Acromesomelic dysplasia Hunter Thompson type Orphanet:968 ! Acromesomelic dysplasia, Hunter-Thomson type OMIM:201250 ! acromesomelic dysplasia, Hunter-Thompson type
GARD:0000512 ! Acropectorovertebral dysplasia F form UMLS:C1863307 OMIM:102510 ! Acropectorovertebral dysplasia
GARD:0000514 ! Acrorenal syndrome recessive UMLS:C0796290 OMIM:201310 ! Acrorenal Syndrome, Autosomal Recessive
GARD:0000524 ! Acute megakaryoblastic leukemia UMLS:C0023462 DOID:8761 ! megakaryocytic leukemia,MESH:D007947 ! Leukemia, Megakaryoblastic, Acute,Orphanet:518 ! Acute megakaryoblastic leukemia
GARD:0000538 ! Acute promyelocytic leukemia UMLS:C0023487 OMIM:612376 ! acute promyelocytic leukemia
GARD:0000545 ! Adducted thumbs Dundar type UMLS:C2931780 OMIM:601776 ! Ehlers-Danlos Syndrome, Musculocontractural Type 1
GARD:0000546 ! Adenine phosphoribosyltransferase deficiency OMIM:102600 OMIM:614723 ! adenine phosphoribosyltransferase deficiency
GARD:0000546 ! Adenine phosphoribosyltransferase deficiency UMLS:C0268120 OMIM:614723 ! adenine phosphoribosyltransferase deficiency
GARD:0000548 ! Anemia due to Adenosine triphosphatase deficiency UMLS:C1863225 OMIM:102800 ! Anemia due to adenosine triphosphatase deficiency
GARD:0000555 ! X-linked adrenal hypoplasia congenita UMLS:C0220766 OMIM:300200 ! Adrenal Hypoplasia, Congenital,Orphanet:95702 ! Cytomegalic congenital adrenal hypoplasia
GARD:0000562 ! Adrenomyodystrophy Orphanet:2457 ! Mandibuloacral dysplasia OMIM:300270 ! Adrenomyodystrophy
GARD:0000564 ! Spinal muscular atrophy type 4 OMIM:158590 ! Neuronopathy, Distal Hereditary Motor, Type 2A OMIM:271150 ! adult spinal muscular atrophy
GARD:0000575 ! Aicardi-Goutieres syndrome Orphanet:51 ! Aicardi-GoutiC(res syndrome DOID:0050629 ! Aicardi-Goutieres syndrome,MESH:C535607 ! Aicardi-Goutieres syndrome
GARD:0000577 ! Akaba Hayasaka syndrome UMLS:C2930948 MESH:C535609 ! Akaba Hayasaka syndrome
GARD:0000578 ! Akesson syndrome UMLS:C0795848 OMIM:304200 ! Cutis Verticis Gyrata, Thyroid Aplasia, and Mental Retardation
GARD:0000579 ! Aksu von Stockhausen syndrome UMLS:C2930949 MESH:C535611 ! Aksu von Stockhausen syndrome
GARD:0000581 ! Asrar Facharzt Haque syndrome UMLS:C2930890 MESH:C535391 ! Asrar Facharzt Haque syndrome
GARD:0000583 ! Al Gazali Aziz Salem syndrome Orphanet:2865 ! Short stature - webbed neck - heart disease MESH:C535613 ! Al Gazali Aziz Salem syndrome
GARD:0000583 ! Al Gazali Aziz Salem syndrome UMLS:C2930950 MESH:C535613 ! Al Gazali Aziz Salem syndrome
GARD:0000584 ! Al-Gazali-Donnai-Mueller syndrome UMLS:C1856110 Orphanet:2153 ! Hirschsprung disease - nail hypoplasia - dysmorphism
GARD:0000586 ! Al Gazali Khidr Prem Chandran syndrome UMLS:C2930951 MESH:C535616 ! Al Gazali Khidr Prem Chandran syndrome
GARD:0000587 ! Al Gazali Sabrinathan Nair syndrome Orphanet:2773 ! Osteogenesis imperfecta - retinopathy - seizures - intellectual disability MESH:C535617 ! Al Gazali Sabrinathan Nair syndrome
GARD:0000587 ! Al Gazali Sabrinathan Nair syndrome UMLS:C2930952 MESH:C535617 ! Al Gazali Sabrinathan Nair syndrome
GARD:0000588 ! Coloboma of alar-nasal cartilages with telecanthus UMLS:C1859964 OMIM:203000 ! Frontonasal Dysplasia With Alar Clefts
GARD:0000600 ! Glycogen storage disease type 12 Orphanet:57 ! Glycogen storage disease due to aldolase A deficiency OMIM:611881 ! Glycogen Storage Disease 12
GARD:0000600 ! Glycogen storage disease type 12 UMLS:C0272066 OMIM:611881 ! Glycogen Storage Disease 12
GARD:0000604 ! Autosomal dominant palmoplantar keratoderma and congenital alopecia UMLS:C1863093 OMIM:104100 ! Autosomal dominant palmoplantar keratoderma and congenital alopecia
GARD:0000606 ! Alopecia epilepsy oligophrenia syndrome of Moynahan Orphanet:2574 OMIM:203600 ! Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
GARD:0000606 ! Alopecia epilepsy oligophrenia syndrome of Moynahan UMLS:C0265328 OMIM:203600 ! Alopecia-Epilepsy-Oligophrenia Syndrome of Moynahan
GARD:0000612 ! Alopecia-intellectual disability syndrome UMLS:C1859878 OMIM:203650 ! Alopecia-Mental Retardation Syndrome 1,Orphanet:2850 ! Alopecia-intellectual disability syndrome
GARD:0000615 ! Alopecia universalis onychodystrophy vitiligo UMLS:C2931408 MESH:C537056 ! Alopecia universalis onychodystrophy vitiligo
GARD:0000616 ! Alpha-2 deficient collagen disease UMLS:C1859850 OMIM:203760 ! Alpha-2-Deficient Collagen Disease
GARD:0000621 ! Alpha-thalassemia UMLS:C0002312 DOID:1099 ! alpha thalassemia,OMIM:604131 ! Alpha-Thalassemia
GARD:0000624 ! Autosomal dominant Alport syndrome Orphanet:63 OMIM:104200 ! Autosomal dominant Alport syndrome
GARD:0000632 ! Familial Alzheimer disease UMLS:C0276496 DOID:10652 ! Alzheimer's disease,OMIA:000033 ! Alzheimer disease,OMIM:104300 ! Alzheimer Disease
GARD:0000634 ! Leber congenital amaurosis UMLS:C0339527 DOID:14791 ! Leber congenital amaurosis
GARD:0000635 ! Leber congenital amaurosis 1 UMLS:C2931258 OMIM:204000 ! Leber Congenital Amaurosis 1
GARD:0000637 ! Amaurosis congenita cone-rod type with congenital hypertrichosis UMLS:C1859843 OMIM:204110 ! Amaurosis Congenita, Cone-Rod Type, With Congenital Hypertrichosis
GARD:0000656 ! Familial transthyretin amyloidosis UMLS:C2751492 OMIM:105210 ! transthyretin amyloidosis
GARD:0000657 ! Amyloidosis of gingiva and conjunctiva with intellectual disability UMLS:C1859815 OMIM:204850 ! Amyloidosis of Gingiva and Conjunctiva, With Mental Retardation
GARD:0000668 ! Anemia sideroblastic and spinocerebellar ataxia UMLS:C1845028 DOID:0060064 ! sideroblastic anemia with spinocerebellar ataxia,MESH:C536358 ! Anemia, sideroblastic spinocerebellar ataxia,OMIM:301310 ! X-linked sideroblastic anemia with ataxia
GARD:0000669 ! Anencephaly and spina bifida X-linked OMIM:301410 ! Neural Tube Defects, X-Linked MESH:C536359 ! Anencephaly and spina bifida X-linked
GARD:0000669 ! Anencephaly and spina bifida X-linked UMLS:C2931178 MESH:C536359 ! Anencephaly and spina bifida X-linked
GARD:0000671 ! Angel shaped phalangoepiphyseal dysplasia UMLS:C1739384 OMIM:105835 ! Angel-shaped phalango-epiphyseal dysplasia
GARD:0000683 ! Angiostrongyliasis UMLS:C0392662 DOID:0050256 ! angiostrongyliasis
GARD:0000685 ! Aniridia absent patella UMLS:C1862868 OMIM:106220 ! Aniridia - absent patella
GARD:0000696 ! Ankyloblepharon filiforme adnatum cleft palate UMLS:C1302999 OMIM:106250 ! Ankyloblepharon filiforme adnatum - cleft palate
GARD:0000701 ! Ankylosis of teeth Orphanet:1077 ! Dental ankylosis OMIM:157950 ! tooth ankylosis
GARD:0000707 ! Anorectal atresia OMIM:207500 ! Anus, Imperforate Orphanet:96346 ! Anorectal malformation
GARD:0000708 ! Anonychia ectrodactyly UMLS:C1862843 OMIM:106900 ! Anonychia-Ectrodactyly
GARD:0000709 ! Anonychia total with microcephaly UMLS:C1846617 OMIM:607214 ! Anonychia, Total, With Microcephaly
GARD:0000710 ! Anonychia onychodystrophy Orphanet:79143 ! Congenital anonychia Orphanet:90390 ! Anonychia - onychodystrophy
GARD:0000711 ! Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly UMLS:C1862842 OMIM:106990 ! Anonychia-Onychodystrophy With Brachydactyly Type B and Ectrodactyly
GARD:0000713 ! Microphthalmia syndromic 9 UMLS:C1832661 DOID:0050819 ! Matthew-Wood syndrome,OMIM:601186 ! Microphthalmia, Syndromic 9
GARD:0000722 ! Anophthalmos with limb anomalies UMLS:C0599973 MESH:C537769 ! Anophthalmos with limb anomalies,OMIM:206920 ! Microphthalmia with limb anomalies
GARD:0000731 ! Anti-plasmin deficiency, congenital UMLS:C2752081 OMIM:262850 ! Alpha-2-Plasmin Inhibitor Deficiency
GARD:0000748 ! Aphalangia partial with syndactyly and duplication of metatarsal IV UMLS:C1838161 OMIM:600384 ! Aphalangia, Partial, With Syndactyly and Duplication of Metatarsal 4
GARD:0000762 ! APUDoma UMLS:C0003650 DOID:170 ! endocrine gland cancer,MESH:D001079 ! Apudoma
GARD:0000763 ! Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis and acidosis UMLS:C1859818 OMIM:204730 ! Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis
GARD:0000771 ! Arroyo Garcia Cimadevilla syndrome UMLS:C2931494 MESH:C537439 ! Arroyo Garcia Cimadevilla syndrome
GARD:0000777 ! Arthrogryposis multiplex congenita OMIM:108110 DOID:0050646 ! distal arthrogryposis,OMIA:001465 ! Arthrogryposis multiplex congenita
GARD:0000781 ! Arthrogryposis epileptic seizures migrational brain disorder UMLS:C2931495 MESH:C537442 ! Arthrogryposis epileptic seizures migrational brain disorder
GARD:0000783 ! Arthrogryposis like disorder UMLS:C1859709 OMIM:259450 ! Bruck Syndrome 1,Orphanet:1149 ! Arthrogryposis-like syndrome
GARD:0000787 ! Arthrogryposis multiplex congenita distal type 1 Orphanet:1146 ! Digitotalar dysmorphism OMIM:108120 ! Arthrogryposis, Distal, Type 1A
GARD:0000787 ! Arthrogryposis multiplex congenita distal type 1 UMLS:C0220662 OMIM:108120 ! Arthrogryposis, Distal, Type 1A
GARD:0000788 ! Arthrogryposis multiplex congenita, distal type 2 OMIM:601680 ! Arthrogryposis, Distal, Type 2B MESH:C535379 ! Arthrogryposis multiplex congenita, distal type 2
GARD:0000788 ! Arthrogryposis multiplex congenita, distal type 2 UMLS:C2930889 MESH:C535379 ! Arthrogryposis multiplex congenita, distal type 2
GARD:0000791 ! Arthrogryposis multiplex congenita pulmonary hypoplasia UMLS:C2931265 OMIM:208150 ! Fetal Akinesia Deformation Sequence
GARD:0000794 ! Arthrogryposis renal dysfunction cholestasis syndrome UMLS:C1859722 DOID:0050763 ! ARC syndrome,MESH:C535382 ! Arthrogryposis renal dysfunction cholestasis syndrome
GARD:0000802 ! Atrioventricular septal defect UMLS:C0344783 DOID:0050651 ! atrioventricular septal defect,OMIM:606215 ! Atrioventricular Septal Defect
GARD:0000806 ! Spastic paraplegia facial cutaneous lesions UMLS:C2931617 Orphanet:2819 ! Spastic paraplegia - facial-cutaneous lesions
GARD:0000808 ! Baker Vinters syndrome UMLS:C2931659 MESH:C537899 ! Baker Vinters syndrome
GARD:0000813 ! Banki syndrome UMLS:C1862319 OMIM:109300 ! Banki syndrome
GARD:0000815 ! Baraitser Brett Piesowicz syndrome OMIM:251290 ! pseudo-TORCH syndrome MESH:C537905 ! Baraitser Brett Piesowicz syndrome
GARD:0000815 ! Baraitser Brett Piesowicz syndrome UMLS:C2931662 MESH:C537905 ! Baraitser Brett Piesowicz syndrome
GARD:0000817 ! Baraitser Rodeck Garner syndrome OMIM:218650 ! Craniosynostosis-Mental Retardation-Clefting Syndrome MESH:C537906 ! Baraitser Rodeck Garner syndrome
GARD:0000817 ! Baraitser Rodeck Garner syndrome UMLS:C2931663 MESH:C537906 ! Baraitser Rodeck Garner syndrome
GARD:0000820 ! Bardet-Biedl syndrome 1 Orphanet:110 OMIM:209900 ! Bardet-Biedl Syndrome 1
GARD:0000820 ! Bardet-Biedl syndrome 1 UMLS:C2936862 OMIM:209900 ! Bardet-Biedl Syndrome 1
GARD:0000821 ! Bardet-Biedl syndrome 2 OMIM:209900 ! Bardet-Biedl Syndrome 1 OMIM:615981 ! Bardet-Biedl Syndrome 2
GARD:0000821 ! Bardet-Biedl syndrome 2 Orphanet:110 OMIM:615981 ! Bardet-Biedl Syndrome 2
GARD:0000821 ! Bardet-Biedl syndrome 2 UMLS:C2936863 OMIM:615981 ! Bardet-Biedl Syndrome 2
GARD:0000822 ! Bardet-Biedl syndrome 3 OMIM:209900 ! Bardet-Biedl Syndrome 1 OMIM:600151 ! Bardet-Biedl Syndrome 3
GARD:0000822 ! Bardet-Biedl syndrome 3 UMLS:C1859564 OMIM:600151 ! Bardet-Biedl Syndrome 3
GARD:0000823 ! Bardet-Biedl syndrome 4 OMIM:209900 ! Bardet-Biedl Syndrome 1 OMIM:615982 ! Bardet-Biedl Syndrome 4
GARD:0000823 ! Bardet-Biedl syndrome 4 UMLS:C2936864 OMIM:615982 ! Bardet-Biedl Syndrome 4
GARD:0000824 ! Bare lymphocyte syndrome 2 UMLS:C2931418 Orphanet:572 ! Immunodeficiency by defective expression of HLA class 2
GARD:0000830 ! Bartter syndrome antenatal type 1 UMLS:C1866495 OMIM:601678 ! Bartter Syndrome, Antenatal, Type 1
GARD:0000833 ! Basaran Yilmaz syndrome UMLS:C2931577 MESH:C537660 ! Basaran Yilmaz syndrome
GARD:0000835 ! Bassoe syndrome UMLS:C2931578 MESH:C537661 ! Bassoe syndrome
GARD:0000836 ! Battaglia-Neri syndrome Orphanet:1948 ! Epilepsy - microcephaly - skeletal dysplasia MESH:C537662 ! Battaglia Neri syndrome,OMIM:601352 ! Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
GARD:0000836 ! Battaglia-Neri syndrome UMLS:C2931579 MESH:C537662 ! Battaglia Neri syndrome,OMIM:601352 ! Mental Retardation, Microcephaly, Epilepsy, and Coarse Face
GARD:0000838 ! Bazex-Dupre-Christol syndrome Orphanet:113 ! Bazex-DuprC)-Christol syndrome MESH:C537663 ! Bazex-Dupre-Christol syndrome,OMIM:301845 ! Bazex Syndrome
GARD:0000838 ! Bazex-Dupre-Christol syndrome UMLS:C0346104 MESH:C537663 ! Bazex-Dupre-Christol syndrome,OMIM:301845 ! Bazex Syndrome
GARD:0000839 ! Bazopoulou-Kyrkanidou syndrome Orphanet:1800 MESH:C537664 ! Bazopoulou Kyrkanidou syndrome
GARD:0000839 ! Bazopoulou-Kyrkanidou syndrome UMLS:C2931580 MESH:C537664 ! Bazopoulou Kyrkanidou syndrome
GARD:0000842 ! Beardwell syndrome UMLS:C2931581 MESH:C537665 ! Beardwell syndrome,OMIM:106400 ! diffuse idiopathic skeletal hyperostosis
GARD:0000844 ! Myotonia congenita autosomal recessive Orphanet:614 ! Thomsen and Becker disease OMIM:255700 ! Myotonia Congenita, Autosomal Recessive
GARD:0000848 ! Behcet's disease Orphanet:117 ! BehC'et disease OMIM:109650 ! Behcet's disease
GARD:0000852 ! Ben Ari Shuper Mimouni syndrome UMLS:C2930897 MESH:C535427 ! Ben Ari Shuper Mimouni syndrome
GARD:0000856 ! Convulsions, benign familial infantile, 1 UMLS:C1866328 DOID:0060169 ! benign familial infantile epilepsy,OMIM:601764 ! Seizures, Benign Familial Infantile, 1
GARD:0000863 ! Berger disease Orphanet:34145 DOID:2986 ! IgA glomerulonephritis,OMIM:161950 ! Iga Nephropathy, Susceptibility To, 1
GARD:0000863 ! Berger disease UMLS:C0017661 DOID:2986 ! IgA glomerulonephritis,OMIM:161950 ! Iga Nephropathy, Susceptibility To, 1
GARD:0000870 ! Beta-sarcoglycanopathy OMIM:600900 MESH:C535435 ! Beta-sarcoglycanopathy
GARD:0000870 ! Beta-sarcoglycanopathy UMLS:C2930900 MESH:C535435 ! Beta-sarcoglycanopathy
GARD:0000872 ! Beta ketothiolase deficiency Orphanet:134 ! Ketoacidosis due to beta-ketothiolase deficiency OMIM:203750 ! beta-ketothiolase deficiency
GARD:0000873 ! Bethlem myopathy UMLS:C1834674 OMIM:158810 ! Bethlem myopathy
GARD:0000878 ! Bidirectional tachycardia UMLS:C2930902 MESH:C535438 ! Bidirectional tachycardia
GARD:0000882 ! Biemond syndrome 2 UMLS:C0796190 OMIM:210350 ! Biemond syndrome type 2
GARD:0000884 ! Bifid nose OMIM:109740 ! Bifid Nose, Autosomal Dominant DC:0000479 ! Bifid Nose,OMIM:210400 ! Bifid Nose, Autosomal Recessive
GARD:0000884 ! Bifid nose OMIM:608980 ! BNAR syndrome DC:0000479 ! Bifid Nose,OMIM:210400 ! Bifid Nose, Autosomal Recessive
GARD:0000884 ! Bifid nose UMLS:C0221363 DC:0000479 ! Bifid Nose,OMIM:210400 ! Bifid Nose, Autosomal Recessive
GARD:0000886 ! Biliary atresia extrahepatic UMLS:C0005411 DOID:13608 ! biliary atresia,OMIM:210500 ! Biliary Atresia, Extrahepatic
GARD:0000893 ! Fallot complex with severe mental and growth retardation Orphanet:3304 ! Fallot complex - intellectual disability - growth delay OMIM:601127 ! Fallot Complex With Severe Mental and Growth Retardation
GARD:0000893 ! Fallot complex with severe mental and growth retardation UMLS:C1832735 OMIM:601127 ! Fallot Complex With Severe Mental and Growth Retardation
GARD:0000897 ! Bixler Christian Gorlin syndrome UMLS:C0220742 OMIM:239800 ! hypertelorism, microtia, facial clefting syndrome
GARD:0000901 ! Blepharofacioskeletal syndrome Orphanet:1251 OMIM:164220 ! Schilbach-Rott syndrome
GARD:0000901 ! Blepharofacioskeletal syndrome UMLS:C1834038 OMIM:164220 ! Schilbach-Rott syndrome
GARD:0000905 ! Blepharophimosis with ptosis, syndactyly, and short stature Orphanet:2057 ! Blepharophimosis - ptosis - esotropia - syndactyly - short stature OMIM:210745 ! Blepharophimosis With Ptosis, Syndactyly, and Short Stature
GARD:0000905 ! Blepharophimosis with ptosis, syndactyly, and short stature UMLS:C1859432 OMIM:210745 ! Blepharophimosis With Ptosis, Syndactyly, and Short Stature
GARD:0000914 ! Chondrodysplasia Blomstrand type UMLS:C1859148 OMIM:215045 ! chondrodysplasia Blomstrand type
GARD:0000922 ! Bone dysplasia lethal Holmgren type UMLS:C1859407 OMIM:211120 ! Bone dysplasia, lethal Holmgren type
GARD:0000932 ! Book syndrome Orphanet:1262 ! BC6C6k syndrome OMIM:112300 ! Book Syndrome
GARD:0000932 ! Book syndrome UMLS:C0457014 OMIM:112300 ! Book Syndrome
GARD:0000933 ! Boomerang dysplasia UMLS:C0432201 OMIM:112310 ! Boomerang dysplasia
GARD:0000936 ! Borjeson-Forssman-Lehmann syndrome UMLS:C0265339 DOID:0050681 ! Borjeson-Forssman-Lehmann syndrome,OMIM:301900 ! Borjeson-Forssman-Lehmann Syndrome
GARD:0000938 ! Bork Stender Schmidt syndrome Orphanet:1264 ! Tricho-retino-dento-digital syndrome OMIM:191482 ! Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly
GARD:0000938 ! Bork Stender Schmidt syndrome UMLS:C1860605 OMIM:191482 ! Uncombable Hair, Retinal Pigmentary Dystrophy, Dental Anomalies, and Brachydactyly
GARD:0000939 ! Borrone Di Rocco Crovato syndrome OMIM:211170 MESH:C536577 ! Borrone Di Rocco Crovato syndrome
GARD:0000939 ! Borrone Di Rocco Crovato syndrome UMLS:C1859406 MESH:C536577 ! Borrone Di Rocco Crovato syndrome
GARD:0000942 ! Bothriocephalosis UMLS:C0277032 DOID:10075 ! diphyllobothriasis
GARD:0000943 ! Botulism UMLS:C0006057 DOID:11976 ! botulism
GARD:0000944 ! Ataxia - hypogonadism - choroidal dystrophy UMLS:C1859093 OMIM:215470 ! Boucher-Neuhauser Syndrome,Orphanet:1180 ! Ataxia - hypogonadism - choroidal dystrophy
GARD:0000945 ! Boudhina Yedes Khiari syndrome UMLS:C2931668 MESH:C537939 ! Boudhina Yedes Khiari syndrome
GARD:0000951 ! Bowen syndrome Orphanet:1271 OMIM:211200 ! Bowen Syndrome of Multiple Malformations
GARD:0000951 ! Bowen syndrome UMLS:C1859404 OMIM:211200 ! Bowen Syndrome of Multiple Malformations
GARD:0000954 ! Boylan Dew Greco syndrome UMLS:C2931419 MESH:C537083 ! Boylan Dew Greco syndrome
GARD:0000955 ! Brachioskeletogenital syndrome Orphanet:1299 ! Branchio-skeleto-genital syndrome OMIM:211380 ! Brachioskeletogenital Syndrome
GARD:0000955 ! Brachioskeletogenital syndrome UMLS:C1859384 OMIM:211380 ! Brachioskeletogenital Syndrome
GARD:0000957 ! Brachycephalofrontonasal dysplasia UMLS:C1840378 MESH:C536951 ! Teebi syndrome,OMIM:145420 ! Hypertelorism, Teebi type
GARD:0000959 ! Brachydactyly types B and E combined Orphanet:93395 ! Ballard syndrome OMIM:112440 ! Brachydactyly, Combined B and E Types
GARD:0000959 ! Brachydactyly types B and E combined UMLS:C1862163 OMIM:112440 ! Brachydactyly, Combined B and E Types
GARD:0000963 ! Brachydactyly type A3 UMLS:C1862140 OMIM:112700 ! Brachydactyly, Type A3
GARD:0000967 ! Brachydactyly with hypertension UMLS:C1862170 OMIM:112410 ! Hypertension and Brachydactyly Syndrome
GARD:0000968 ! Brachydactyly long thumb type UMLS:C1862169 OMIM:112430 ! Brachydactyly - long thumb
GARD:0000972 ! Brachydactyly preaxial with hallux varus and thumb abduction UMLS:C1862162 OMIM:112450 ! Brachydactyly, Preaxial, With Hallux Varus and Thumb Abduction
GARD:0000982 ! Brachydactyly type A5 OMIM:112900 Orphanet:93389 ! Brachydactyly type A5
GARD:0000982 ! Brachydactyly type A5 UMLS:C1862138 Orphanet:93389 ! Brachydactyly type A5
GARD:0000985 ! Brachydactyly type B UMLS:C1862112 OMIM:113000 ! Brachydactyly type B
GARD:0000987 ! Brachydactyly type E UMLS:C1862102 OMIM:113300 ! Brachydactyly, Type E1,Orphanet:93387 ! Brachydactyly type E
GARD:0000988 ! Brachymesomelia renal syndrome UMLS:C1862084 OMIM:113470 ! Brachymesomelia-Renal Syndrome
GARD:0000990 ! Brachydactyly type A4 UMLS:C1862139 OMIM:112800 ! Brachydactyly type A4
GARD:0000992 ! Brachymetapody anodontia hypotrichosis albinoidism UMLS:C1859385 OMIM:211370 ! Oculoosteocutaneous syndrome
GARD:0000994 ! Spondyloepiphyseal dysplasia Maroteaux type UMLS:C1300264 OMIM:184095 ! Spondyloepiphyseal dysplasia, Maroteaux type
GARD:0000995 ! Brachyolmia type 1 Hobaek type UMLS:C1849055 OMIM:271530 ! Brachyolmia type 1, Hobaek type
GARD:0001002 ! Branchial arch syndrome X-linked Orphanet:1131 ! X-linked mandibulofacial dysostosis OMIM:301950 ! Branchial Arch Syndrome, X-Linked
GARD:0001002 ! Branchial arch syndrome X-linked UMLS:C1844918 OMIM:301950 ! Branchial Arch Syndrome, X-Linked
GARD:0001004 ! Oculootofacial dysplasia UMLS:C1835913 MESH:C563682 ! Oculootofacial Dysplasia,OMIM:608572 ! Burn-Mckeown Syndrome,Orphanet:77302 ! Oculo-oto-facial dysplasia
GARD:0001017 ! Osteogenesis imperfecta UMLS:C0029434 DOID:12347 ! osteogenesis imperfecta,OMIA:000754 ! Osteogenesis imperfecta
GARD:0001019 ! Brittle cornea syndrome OMIM:614170 ! Brittle Cornea Syndrome 2 DOID:14775 ! type VI Ehlers-Danlos syndrome
GARD:0001019 ! Brittle cornea syndrome UMLS:C0268344 DOID:14775 ! type VI Ehlers-Danlos syndrome
GARD:0001029 ! Bruck syndrome 1 UMLS:C1850168 DOID:0060231 ! Bruck syndrome,OMIM:259450 ! Bruck Syndrome 1
GARD:0001032 ! Brunoni syndrome UMLS:C2931486 MESH:C537408 ! Brunoni syndrome
GARD:0001037 ! Primary basilar impression UMLS:C1862299 OMIM:109500 ! Primary basilar impression
GARD:0001038 ! Bullous dystrophy hereditary macular type Orphanet:1867 ! Bullous dystrophy, macular type OMIM:302000 ! Bullous Dystrophy, Hereditary Macular Type
GARD:0001038 ! Bullous dystrophy hereditary macular type UMLS:C0795974 OMIM:302000 ! Bullous Dystrophy, Hereditary Macular Type
GARD:0001039 ! Epidermolytic hyperkeratosis Orphanet:312 ! Epidermolytic ichthyosis OMIA:001415 ! Hyperkeratosis, epidermolytic,OMIM:113800 ! epidermolytic hyperkeratosis,OMIM:146800 ! Ichthyosis, Bullous Type
GARD:0001044 ! Buschke Ollendorff syndrome UMLS:C0265514 OMIM:166700 ! Buschke-Ollendorff Syndrome,Orphanet:1306 ! Buschke-Ollendorff syndrome
GARD:0001045 ! Bustos Simosa Pinto Cisternas syndrome UMLS:C2931488 OMIM:225060 ! Zlotogora-Ogur syndrome
GARD:0001050 ! Cafe au lait spots, multiple UMLS:C1861975 OMIM:114030 ! Cafe-Au-Lait Spots, Multiple
GARD:0001051 ! Caffey disease UMLS:C0020497 OMIM:114000 ! Caffey disease
GARD:0001055 ! Calloso-genital dysplasia UMLS:C2931677 MESH:C537962 ! Calloso-genital dysplasia
GARD:0001057 ! Limb-girdle muscular dystrophy type 2A Orphanet:267 ! Autosomal recessive limb-girdle muscular dystrophy type 2A OMIM:253600 ! Muscular Dystrophy, Limb-Girdle, Type 2A
GARD:0001057 ! Limb-girdle muscular dystrophy type 2A UMLS:C1869123 OMIM:253600 ! Muscular Dystrophy, Limb-Girdle, Type 2A
GARD:0001058 ! Calvarial hyperostosis UMLS:C1863351 OMIM:302030 ! Calvarial Hyperostosis
GARD:0001060 ! Cataract-microcephaly-failure to thrive-kyphoscoliosis UMLS:C1859312 OMIM:212540 ! Cataract, Microcephaly, Failure to Thrive, Kyphoscoliosis Syndrome
GARD:0001064 ! Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia UMLS:C1859357 OMIM:211930 ! Camptodactyly With Fibrous Tissue Hyperplasia and Skeletal Dysplasia
GARD:0001065 ! Camptodactyly joint contractures and facial skeletal dysplasia UMLS:C2931678 MESH:C537969 ! Camptodactyly joint contractures and facial skeletal dysplasia
GARD:0001069 ! Camptodactyly taurinuria OMIM:114200 ! Camptodactyly 1 Orphanet:1325 ! Camptodactyly - taurinuria
GARD:0001070 ! Camptodactyly vertebral fusion UMLS:C2931682 MESH:C537973 ! Camptodactyly vertebral fusion
GARD:0001071 ! Camptomelic syndrome long limb type UMLS:C1859354 OMIM:211990 ! Camptomelic Syndrome, Long-Limb Type
GARD:0001076 ! Systemic candidiasis UMLS:C0153252 DOID:1508 ! candidiasis,MESH:D058365 ! Candidiasis, Invasive
GARD:0001077 ! Candidiasis familial chronic mucocutaneous, autosomal recessive Orphanet:1334 ! Chronic mucocutaneous candidosis MESH:C537979 ! Candidiasis familial chronic mucocutaneous, autosomal recessive,OMIM:212050 ! Candidiasis, Familial, 2,OMIM:613953 ! Candidiasis, Familial, 5,OMIM:615527 ! Candidiasis, Familial, 8
GARD:0001078 ! Cantalamessa Baldini Ambrosi syndrome UMLS:C2931685 MESH:C537981 ! Cantalamessa Baldini Ambrosi syndrome
GARD:0001081 ! Cantu Sanchez-Corona Fragoso syndrome UMLS:C2930937 MESH:C535571 ! Cantu Sanchez-Corona Fragoso syndrome
GARD:0001093 ! Progressive familial heart block type 1A Orphanet:871 ! Familial progressive cardiac conduction defect OMIM:113900 ! Progressive Familial Heart Block, Type 1A
GARD:0001096 ! Cardiac valvular dysplasia, X-linked UMLS:C0262436 OMIM:314400 ! Cardiac Valvular Dysplasia, X-Linked
GARD:0001117 ! Carnevale Hernandez Castillo syndrome UMLS:C2930940 MESH:C535585 ! Carnevale Hernandez Castillo syndrome
GARD:0001118 ! Carnevale syndrome UMLS:C0796279 OMIM:107650 ! obstructive sleep apnea,OMIM:265050 ! 3Mc Syndrome 2
GARD:0001120 ! Carnitine palmitoyl transferase 1 deficiency OMIM:600528 OMIM:255120 ! Carnitine palmitoyl transferase 1A deficiency
GARD:0001120 ! Carnitine palmitoyl transferase 1 deficiency UMLS:C1829703 OMIM:255120 ! Carnitine palmitoyl transferase 1A deficiency
GARD:0001121 ! Carnitine palmitoyltransferase 2 deficiency OMIM:600650 DOID:0060235 ! carnitine palmitoyltransferase II deficiency
GARD:0001121 ! Carnitine palmitoyltransferase 2 deficiency UMLS:C0342790 DOID:0060235 ! carnitine palmitoyltransferase II deficiency
GARD:0001130 ! Carrington syndrome UMLS:C2930941 Orphanet:2902 ! Idiopathic chronic eosinophilic pneumonia
GARD:0001132 ! Cartwright Nelson Fryns syndrome UMLS:C2931062 MESH:C535917 ! Cartwright Nelson Fryns syndrome
GARD:0001133 ! Stocco dos Santos syndrome UMLS:C1845530 OMIM:300434 ! Stocco Dos Santos X-Linked Mental Retardation Syndrome
GARD:0001140 ! Cataract anterior polar dominant OMIM:115650 ! Cataract 32, Multiple Types MESH:C538282 ! Cataract anterior polar dominant,OMIM:208250 ! Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
GARD:0001140 ! Cataract anterior polar dominant Orphanet:171881 ! Cap myopathy MESH:C538282 ! Cataract anterior polar dominant,OMIM:208250 ! Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome
GARD:0001144 ! Cataract congenital dominant non nuclear OMIM:601286 MESH:C538284 ! Cataract congenital dominant non nuclear,OMIM:251200 ! Microcephaly 1, Primary, Autosomal Recessive
GARD:0001154 ! Cataract mental retardation hypogonadism UMLS:C0796037 OMIM:212720 ! Martsolf Syndrome
GARD:0001155 ! Cataract microcornea syndrome OMIM:116150 Orphanet:1377 ! Cataract-microcornea syndrome
GARD:0001164 ! Caudal duplication UMLS:C0544738 OMIM:607864 ! Caudal duplication
GARD:0001188 ! Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss UMLS:C1832466 OMIM:601338 ! Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
GARD:0001194 ! Cerebellar hypoplasia Orphanet:1398 ! Isolated cerebellar hypoplasia/agenesis OMIA:000179 ! Cerebellar hypoplasia,OMIM:213000 ! Cerebellar Hypoplasia
GARD:0001194 ! Cerebellar hypoplasia UMLS:C0266470 OMIA:000179 ! Cerebellar hypoplasia,OMIM:213000 ! Cerebellar Hypoplasia
GARD:0001204 ! Cerebral cavernous malformation Orphanet:164 DC:0000074 ! Cerebral Cavernous Malformations,DOID:483 ! cavernous hemangioma,MESH:C536610 ! Familial cerebral cavernous malformation,OMIM:116860 ! Cerebral Cavernous Malformations
GARD:0001217 ! Retinal vasculopathy with cerebral leukodystrophy UMLS:C1860518 OMIM:192315 ! Vasculopathy, Retinal, With Cerebral Leukodystrophy,Orphanet:247691 ! Retinal vasculopathy and cerebral leukodystrophy
GARD:0001218 ! Neuronal ceroid lipofuscinosis 10 UMLS:C1864669 OMIA:001505 ! Neuronal ceroid lipofuscinosis, 10,OMIM:610127 ! CLN10 disease
GARD:0001220 ! Neuronal ceroid lipofuscinosis 7 UMLS:C1838571 OMIA:001962 ! Neuronal ceroid lipofuscinosis, 7,OMIM:610951 ! CLN7 disease
GARD:0001222 ! Autosomal dominant neuronal ceroid lipofuscinosis 4B UMLS:C1834207 OMIM:162350 ! CLN4B disease
GARD:0001223 ! Neuronal ceroid lipofuscinosis 5 Orphanet:228360 OMIA:001482 ! Neuronal ceroid lipofuscinosis, 5
GARD:0001223 ! Neuronal ceroid lipofuscinosis 5 UMLS:C1850442 OMIA:001482 ! Neuronal ceroid lipofuscinosis, 5
GARD:0001224 ! Neuronal ceroid lipofuscinosis 6 Orphanet:228363 OMIA:001443 ! Neuronal ceroid lipofuscinosis, 6
GARD:0001224 ! Neuronal ceroid lipofuscinosis 6 UMLS:C1866282 OMIA:001443 ! Neuronal ceroid lipofuscinosis, 6
GARD:0001227 ! Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction UMLS:C1832391 OMIM:601389 ! Cervical Ribs, Sprengel Anomaly, Anal Atresia, and Urethral Obstruction
GARD:0001233 ! CHAND syndrome Orphanet:1401 OMIM:214350 ! Chands
GARD:0001233 ! CHAND syndrome UMLS:C0406733 OMIM:214350 ! Chands
GARD:0001234 ! Chang Davidson Carlson syndrome OMIM:209900 ! Bardet-Biedl Syndrome 1 MESH:C538075 ! Chang Davidson Carlson syndrome
GARD:0001234 ! Chang Davidson Carlson syndrome Orphanet:2235 ! Hypogonadotropic hypogonadism - retinitis pigmentosa MESH:C538075 ! Chang Davidson Carlson syndrome
GARD:0001234 ! Chang Davidson Carlson syndrome UMLS:C2931722 MESH:C538075 ! Chang Davidson Carlson syndrome
GARD:0001240 ! X-linked Charcot-Marie-Tooth disease type 4 UMLS:C0795910 Orphanet:101078 ! X-linked Charcot-Marie-Tooth disease type 4
GARD:0001242 ! Charcot-Marie-Tooth type 1 aplasia cutis congenita UMLS:C1844864 OMIM:302803 ! Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita
GARD:0001243 ! X-linked Charcot-Marie-Tooth disease type 2 UMLS:C1844873 OMIM:302801 ! Charcot-Marie-Tooth Disease, X-Linked Recessive, 2,Orphanet:101076 ! X-linked Charcot-Marie-Tooth disease type 2
GARD:0001244 ! X-linked Charcot-Marie-Tooth disease type 3 UMLS:C1844865 OMIM:302802 ! Charcot-Marie-Tooth Disease, X-Linked Recessive, 3,Orphanet:101077 ! X-linked Charcot-Marie-Tooth disease type 3
GARD:0001248 ! Charcot-Marie-Tooth disease type 2A OMIM:118210 ! Charcot-Marie-Tooth Disease, Axonal, Type 2A1 MESH:C537988 ! Charcot-Marie-Tooth disease, Type 2A
GARD:0001248 ! Charcot-Marie-Tooth disease type 2A UMLS:C2079538 MESH:C537988 ! Charcot-Marie-Tooth disease, Type 2A
GARD:0001250 ! Charcot-Marie-Tooth disease type 2C UMLS:C2079540 OMIM:606071 ! Hereditary Motor and Sensory Neuropathy, Type 2C
GARD:0001251 ! Charcot-Marie-Tooth disease type 2D UMLS:C1832274 OMIM:601472 ! Charcot-Marie-Tooth Disease, Axonal, Type 2D,Orphanet:99938 ! Autosomal dominant Charcot-Marie-Tooth disease type 2D
GARD:0001261 ! Charlie M syndrome UMLS:C0221060 Orphanet:1406 ! Charlie M syndrome
GARD:0001266 ! Ho Kaufman Mcalister syndrome UMLS:C2931819 MESH:C538325 ! Ho Kaufman Mcalister syndrome
GARD:0001274 ! Chitayat Meunier Hodgkinson syndrome OMIM:311895 ! Pierre Robin Sequence With Facial and Digital Anomalies MESH:C535926 ! Chitayat Meunier Hodgkinson syndrome
GARD:0001274 ! Chitayat Meunier Hodgkinson syndrome Orphanet:2888 ! Pierre Robin syndrome - faciodigital anomaly MESH:C535926 ! Chitayat Meunier Hodgkinson syndrome
GARD:0001274 ! Chitayat Meunier Hodgkinson syndrome UMLS:C2931064 MESH:C535926 ! Chitayat Meunier Hodgkinson syndrome
GARD:0001275 ! Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis UMLS:C2931065 MESH:C535927 ! Chitayat Moore Del Bigio syndrome
GARD:0001277 ! Chitty Hall Webb syndrome UMLS:C2931066 MESH:C535929 ! Chitty Hall Webb syndrome
GARD:0001292 ! Chondrocalcinosis 2 UMLS:C0856830 DOID:1156 ! chondrocalcinosis,OMIM:118600 ! Chondrocalcinosis 2
GARD:0001296 ! Chondrodysplasia punctata 1, X-linked recessive Orphanet:79345 ! Brachytelephalangic chondrodysplasia punctata OMIM:302950 ! Chondrodysplasia Punctata 1, X-Linked Recessive
GARD:0001300 ! Chondrodysplasia, Grebe type UMLS:C0265260 OMIM:200700 ! acromesomelic dysplasia, Grebe type
GARD:0001303 ! Chordoma UMLS:C0008487 DOID:3302 ! chordoma,OMIM:215400 ! Chordoma, Susceptibility to
GARD:0001305 ! Benign hereditary chorea Orphanet:1429 ! Benign familial chorea OMIM:118700 ! Chorea, Benign Hereditary,OMIM:215450 ! Chorea, Benign Familial
GARD:0001305 ! Benign hereditary chorea UMLS:C1859098 OMIM:118700 ! Chorea, Benign Hereditary,OMIM:215450 ! Chorea, Benign Familial
GARD:0001313 ! Choroid plexus calcification with mental retardation UMLS:C1859092 OMIM:215480 ! Choroid Plexus Calcification and Mental Retardation
GARD:0001319 ! Chromoblastomycosis UMLS:C0008582 DOID:1562 ! chromoblastomycosis
GARD:0001325 ! Ring chromosome 12 UMLS:C0795843 Orphanet:1439 ! Ring chromosome 12
GARD:0001356 ! Chronic Infantile Neurological Cutaneous Articular syndrome UMLS:C0409818 OMIM:607115 ! CINCA syndrome
GARD:0001357 ! Mental retardation-hypotonic facies syndrome X-linked, 1 Orphanet:93971 ! Chudley-Lowry-Hoar syndrome OMIM:309580 ! Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
GARD:0001357 ! Mental retardation-hypotonic facies syndrome X-linked, 1 UMLS:C0796003 OMIM:309580 ! Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1
GARD:0001358 ! Chudley Rozdilsky syndrome UMLS:C1854663 OMIM:253320 ! Multicore Myopathy With Mental Retardation, Short Stature, and Hypogonadotropic Hypogonadism,Orphanet:3068 ! Intellectual disability - myopathy - short stature - endocrine defect
GARD:0001360 ! Ciliary discoordination, due to random ciliary orientation UMLS:C0340038 OMIM:215518 ! Ciliary Discoordination Due to Random Ciliary Orientation
GARD:0001369 ! Cleft hand absent tibia UMLS:C1861553 OMIM:119100 ! Split-Hand/Foot Malformation With Long Bone Deficiency 1,Orphanet:3329 ! Tibial aplasia - ectrodactyly
GARD:0001394 ! Cleft palate X-linked UMLS:C1844830 OMIM:303400 ! Cleft Palate With or Without Ankyloglossia, X-Linked
GARD:0001400 ! Cloacal exstrophy UMLS:C0345217 Orphanet:93929 ! Cloacal exstrophy
GARD:0001402 ! Thanatophoric dysplasia type 2 UMLS:C1300257 OMIM:187601 ! Thanatophoric Dysplasia, Type 2,Orphanet:93274 ! Thanatophoric dysplasia type 2
GARD:0001404 ! Micromelic bone dysplasia with cloverleaf skull Orphanet:93274 ! Thanatophoric dysplasia type 2 OMIM:156830 ! Micromelic Bone Dysplasia With Cloverleaf Skull
GARD:0001404 ! Micromelic bone dysplasia with cloverleaf skull UMLS:C1834928 OMIM:156830 ! Micromelic Bone Dysplasia With Cloverleaf Skull
GARD:0001410 ! COACH syndrome Orphanet:1454 ! Joubert syndrome with hepatic defect OMIM:216360 ! Coach Syndrome
GARD:0001410 ! COACH syndrome UMLS:C1857662 OMIM:216360 ! Coach Syndrome
GARD:0001417 ! Cockayne syndrome type III Orphanet:90324 ! Cockayne syndrome type 3 OMIM:216411 ! Cockayne Syndrome, Type 3
GARD:0001417 ! Cockayne syndrome type III UMLS:C0751037 OMIM:216411 ! Cockayne Syndrome, Type 3
GARD:0001420 ! Cockayne syndrome type II Orphanet:1466 ! COFS syndrome OMIM:133540 ! Cockayne Syndrome B,OMIM:214150 ! Cerebrooculofacioskeletal Syndrome 1,Orphanet:90322 ! Cockayne syndrome type 2
GARD:0001425 ! Cole Carpenter syndrome UMLS:C1862178 DOID:0060438 ! Cole-Carpenter syndrome,OMIM:112240 ! Cole-Carpenter Syndrome 1
GARD:0001436 ! Coloboma of macula UMLS:C1852767 DOID:12270 ! coloboma,OMIM:120300 ! Coloboma of Macula
GARD:0001440 ! Coloboma, cleft lip/palate and mental retardation syndrome OMIM:120433 ! Coloboma, Ocular, With or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation MESH:C535971 ! Coloboma, cleft lip/palate and mental retardation syndrome
GARD:0001440 ! Coloboma, cleft lip/palate and mental retardation syndrome UMLS:C0795902 MESH:C535971 ! Coloboma, cleft lip/palate and mental retardation syndrome
GARD:0001443 ! Microphthalmia syndromic 3 Orphanet:77298 ! Anophthalmia/microphthalmia - esophageal atresia OMIM:206900 ! Microphthalmia, Syndromic 3
GARD:0001443 ! Microphthalmia syndromic 3 UMLS:C1859773 OMIM:206900 ! Microphthalmia, Syndromic 3
GARD:0001452 ! Complement component 2 deficiency Orphanet:169147 ! Immunodeficiency due to an early component of complement deficiency OMIM:217000 ! complement component 2 deficiency
GARD:0001460 ! Conductive deafness with malformed external ear Orphanet:3216 OMIM:221300 ! Deafness, Conductive, With Malformed External Ear
GARD:0001460 ! Conductive deafness with malformed external ear UMLS:C1857341 OMIM:221300 ! Deafness, Conductive, With Malformed External Ear
GARD:0001462 ! Cone-rod dystrophy X-linked 2 Orphanet:1872 OMIM:300085 ! Cone-Rod Dystrophy, X-Linked, 2
GARD:0001462 ! Cone-rod dystrophy X-linked 2 UMLS:C1848139 OMIM:300085 ! Cone-Rod Dystrophy, X-Linked, 2
GARD:0001465 ! Congenital lipoid adrenal hyperplasia Orphanet:90790 ! Congenital lipoid adrenal hyperplasia due to STAR deficency DOID:0050811 ! congenital adrenal hyperplasia,OMIM:201710 ! Lipoid Congenital Adrenal Hyperplasia
GARD:0001465 ! Congenital lipoid adrenal hyperplasia UMLS:C0342474 DOID:0050811 ! congenital adrenal hyperplasia,OMIM:201710 ! Lipoid Congenital Adrenal Hyperplasia
GARD:0001469 ! 17-alpha-hydroxylase deficiency UMLS:C0268285 MESH:C538237 ! Adrenal hyperplasia, congenital, type 5,OMIM:202110 ! Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
GARD:0001470 ! Congenital alopecia X-linked Orphanet:79364 OMIM:300042 ! Alopecia, Congenital
GARD:0001470 ! Congenital alopecia X-linked UMLS:C0265992 OMIM:300042 ! Alopecia, Congenital
GARD:0001471 ! Congenital amputation UMLS:C1857583 OMIM:217100 ! Constricting Bands, Congenital
GARD:0001480 ! Congenital cytomegalovirus UMLS:C0158945 Orphanet:294 ! Fetal cytomegalovirus syndrome
GARD:0001487 ! Congenital hypothyroidism UMLS:C0010308 DOID:0050328 ! congenital hypothyroidism
GARD:0001493 ! Congenital mesoblastic nephroma SNOMED_CT:307604008 DOID:4773 ! congenital mesoblastic nephroma
GARD:0001493 ! Congenital mesoblastic nephroma UMLS:C1332965 DOID:4773 ! congenital mesoblastic nephroma
GARD:0001496 ! Congenital mitral stenosis UMLS:C0158618 Orphanet:99057 ! Congenital mitral stenosis
GARD:0001502 ! Short bowel syndrome UMLS:C0036992 DOID:10605 ! short bowel syndrome
GARD:0001512 ! Continuous muscle fiber activity hereditary UMLS:C1834559 OMIM:160120 ! episodic ataxia type 1
GARD:0001515 ! Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay Orphanet:1484 ! Contractures - ectodermal dysplasia - cleft lip/palate OMIM:301815 ! Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay
GARD:0001515 ! Arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay UMLS:C1844935 OMIM:301815 ! Arthrogryposis, Ectodermal Dysplasia, Cleft Lip/Palate, and Developmental Delay
GARD:0001521 ! Menkes disease UMLS:C0022716 OMIA:000640 ! Menkes syndrome,OMIM:309400 ! Menkes disease
GARD:0001531 ! Corneodermatoosseous syndrome Orphanet:3194 ! Stern-Lubinsky-Durrie syndrome OMIM:122440 ! Corneodermatoosseous Syndrome
GARD:0001531 ! Corneodermatoosseous syndrome UMLS:C1852542 OMIM:122440 ! Corneodermatoosseous Syndrome
GARD:0001534 ! Coronary arteries congenital malformation UMLS:C0158623 Orphanet:1081 ! Coronary artery congenital malformation
GARD:0001535 ! Isolated corpus callosum agenesis Orphanet:200 OMIM:217990 ! Corpus Callosum, Agenesis of
GARD:0001550 ! Costello syndrome UMLS:C0587248 OMIM:218040 ! Costello syndrome
GARD:0001553 ! Arthrogryposis and ectodermal dysplasia UMLS:C1866427 MESH:C536593 ! Alves Castelo dos Santos syndrome,OMIM:601701 ! Tricho-oculo-dermo-vertebral syndrome
GARD:0001554 ! Cote Katsantoni syndrome Orphanet:1502 MESH:C536449 ! Cote Katsantoni syndrome
GARD:0001554 ! Cote Katsantoni syndrome UMLS:C2931195 MESH:C536449 ! Cote Katsantoni syndrome
GARD:0001558 ! Coxoauricular syndrome UMLS:C1852513 OMIM:122780 ! Coxoauricular syndrome
GARD:0001565 ! Cranioacrofacial syndrome Orphanet:1339 OMIM:122850 ! Cranioacrofacial Syndrome
GARD:0001565 ! Cranioacrofacial syndrome UMLS:C1852512 OMIM:122850 ! Cranioacrofacial Syndrome
GARD:0001567 ! Craniodiaphyseal dysplasia UMLS:C0410539 DOID:0080032 ! craniodiaphyseal dysplasia,OMIM:218300 ! Craniodiaphyseal Dysplasia
GARD:0001578 ! Craniofrontonasal dysplasia UMLS:C0220767 OMIM:304110 ! craniofrontonasal syndrome
GARD:0001581 ! Craniometaphyseal dysplasia, autosomal dominant Orphanet:1522 OMIM:123000 ! Craniometaphyseal Dysplasia, Autosomal Dominant
GARD:0001582 ! Craniometaphyseal dysplasia, autosomal recessive type Orphanet:1522 OMIM:218400 ! Craniometaphyseal Dysplasia, Autosomal Recessive
GARD:0001583 ! Craniomicromelic syndrome UMLS:C1865184 OMIM:602558 ! Craniomicromelic syndrome
GARD:0001592 ! Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus OMIM:123155 ! Hydrocephalus, Autosomal Dominant MESH:C536790 ! Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
GARD:0001592 ! Dandy-Walker malformation with sagittal craniosynostosis and hydrocephalus UMLS:C1852488 MESH:C536790 ! Craniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus
GARD:0001599 ! Craniosynostosis mental retardation clefting syndrome UMLS:C1857472 OMIM:218650 ! Craniosynostosis-Mental Retardation-Clefting Syndrome
GARD:0001601 ! Craniosynostosis Philadelphia type UMLS:C1832590 OMIM:185900 ! Chromosome 2Q35 Duplication Syndrome,Orphanet:1527 ! Craniosynostosis, Philadelphia type
GARD:0001602 ! Baller-Gerold syndrome UMLS:C0265308 OMIM:218600 ! Baller-Gerold syndrome
GARD:0001608 ! X-linked creatine deficiency UMLS:C1845862 OMIM:300352 ! creatine transporter deficiency,Orphanet:52503 ! X-linked creatine transporter deficiency
GARD:0001611 ! Crisponi syndrome OMIM:601378 DOID:0060294 ! cold-induced sweating syndrome,OMIM:272430 ! Cold-Induced Sweating Syndrome 1
GARD:0001611 ! Crisponi syndrome UMLS:C1832409 DOID:0060294 ! cold-induced sweating syndrome,OMIM:272430 ! Cold-Induced Sweating Syndrome 1
GARD:0001613 ! Familial exudative vitreoretinopathy UMLS:C1851402 DOID:0050535 ! exudative vitreoretinopathy
GARD:0001614 ! Crome syndrome Orphanet:1380 ! Cataract - nephropathy - encephalopathy OMIM:218900 ! Crome Syndrome
GARD:0001614 ! Crome syndrome UMLS:C0795914 OMIM:218900 ! Crome Syndrome
GARD:0001617 ! Crossed polysyndactyly UMLS:C1867999 OMIM:175690 ! Crossed polysyndactyly
GARD:0001620 ! Cryptogenic organizing pneumonia UMLS:C0242770 DOID:0050157 ! cryptogenic organizing pneumonia
GARD:0001638 ! Cutis laxa, autosomal recessive type 2A UMLS:C0268355 OMIM:219200 ! Cutis Laxa, Autosomal Recessive, Type 2A,Orphanet:357058 ! Autosomal recessive cutis laxa type 2A
GARD:0001644 ! Cutis verticis gyrata mental deficiency UMLS:C1857444 MESH:C565661 ! Cutis Verticis Gyrata and Mental Deficiency
GARD:0001654 ! Cystic medial necrosis of aorta OMIM:607086 ! Aortic Aneurysm, Familial Thoracic 1 MESH:C536230 ! Cystic medial necrosis of aorta
GARD:0001654 ! Cystic medial necrosis of aorta Orphanet:229 ! Familial aortic dissection MESH:C536230 ! Cystic medial necrosis of aorta
GARD:0001654 ! Cystic medial necrosis of aorta UMLS:C0392775 MESH:C536230 ! Cystic medial necrosis of aorta
GARD:0001672 ! Davenport Donlan syndrome Orphanet:3215 MESH:C535988 ! Davenport Donlan syndrome
GARD:0001672 ! Davenport Donlan syndrome UMLS:C2931076 MESH:C535988 ! Davenport Donlan syndrome
GARD:0001674 ! Davis Lafer syndrome UMLS:C2931077 MESH:C535989 ! Davis Lafer syndrome
GARD:0001680 ! Frints De Smet Fabry Fryns syndrome UMLS:C2931719 MESH:C538062 ! Frints De Smet Fabry Fryns syndrome
GARD:0001684 ! Deafness conductive stapedial ear malformation facial palsy UMLS:C1852292 OMIM:124490 ! Deafness, Conductive Stapedial, With Ear Malformation and Facial Palsy
GARD:0001685 ! Deafness onychodystrophy osteodystrophy and mental retardation syndrome UMLS:C1857345 OMIM:220500 ! DOORS syndrome
GARD:0001686 ! Deafness craniofacial syndrome UMLS:C1852278 OMIM:125230 ! Deafness-craniofacial syndrome
GARD:0001690 ! Deafness hyperuricemia neurologic ataxia OMIM:311850 MESH:C535995 ! Deafness hyperuricemia neurologic ataxia
GARD:0001690 ! Deafness hyperuricemia neurologic ataxia UMLS:C2931079 MESH:C535995 ! Deafness hyperuricemia neurologic ataxia
GARD:0001691 ! Deafness hypogonadism syndrome UMLS:C1844680 OMIM:304350 ! Deafness - hypogonadism
GARD:0001695 ! Deafness nephritis anorectal malformation OMIM:107100 ! Anorectal Anomalies MESH:C535996 ! Deafness nephritis ano rectal malformation,Orphanet:2408 ! Lowe-Kohn-Cohen syndrome
GARD:0001695 ! Deafness nephritis anorectal malformation UMLS:C2931080 MESH:C535996 ! Deafness nephritis ano rectal malformation,Orphanet:2408 ! Lowe-Kohn-Cohen syndrome
GARD:0001696 ! Isolated growth hormone deficiency type 2 UMLS:C0271567 OMIM:173100 ! Isolated Growth Hormone Deficiency, Type 2
GARD:0001705 ! Congenital deafness with vitiligo and achalasia Orphanet:3239 ! Deafness - vitiligo - achalasia OMIM:221350 ! Deafness, Congenital, With Vitiligo and Achalasia
GARD:0001708 ! Deafness, autosomal dominant nonsyndromic sensorineural 23 UMLS:C2931768 MESH:C538198 ! Deafness, autosomal dominant nonsyndromic sensorineural 23,OMIM:605192 ! Deafness, Autosomal Dominant 23
GARD:0001717 ! Deal Barratt Dillon syndrome UMLS:C2931773 MESH:C538206 ! Deal Barratt Dillon syndrome
GARD:0001722 ! Degos 'en cocarde' erythrokeratoderma Orphanet:315 ! Erythrokeratoderma "en cocardes" Orphanet:79355 ! Erythrokeratoderma
GARD:0001722 ! Degos 'en cocarde' erythrokeratoderma UMLS:C0221011 Orphanet:79355 ! Erythrokeratoderma
GARD:0001727 ! Delayed membranous cranial ossification UMLS:C1835030 OMIM:155980 ! Delayed membranous cranial ossification
GARD:0001735 ! Chromosome 11q deletion UMLS:C2931804 OMIM:147791 ! Jacobsen syndrome
GARD:0001804 ! Dent disease 1 UMLS:C1848336 DOID:0050699 ! Dent disease,OMIM:300009 ! Dent Disease 1
GARD:0001807 ! Dentin dysplasia, type 1 Orphanet:99789 ! Dentin dysplasia type I OMIM:125400 ! Dentin Dysplasia, Type 1
GARD:0001807 ! Dentin dysplasia, type 1 UMLS:C0399379 OMIM:125400 ! Dentin Dysplasia, Type 1
GARD:0001810 ! Der Kaloustian Mcintosh Silver syndrome OMIM:266255 ! Radioulnar Synostosis, Unilateral, With Developmental Retardation and Hypotonia MESH:C538217 ! Der Kaloustian Mcintosh Silver syndrome
GARD:0001810 ! Der Kaloustian Mcintosh Silver syndrome UMLS:C2931776 MESH:C538217 ! Der Kaloustian Mcintosh Silver syndrome
GARD:0001813 ! Dermatoleukodystrophy UMLS:C1857314 OMIM:221790 ! Dermatoleukodystrophy
GARD:0001815 ! Dermochondrocorneal dystrophy of FranC'ois UMLS:C0432288 MESH:C535375 ! Dermochondrocorneal dystrophy of FranC'ois,OMIM:221800 ! Dermochondrocorneal dystrophy
GARD:0001816 ! Dermoodontodysplasia UMLS:C1852144 OMIM:125640 ! Dermo-odonto dysplasia
GARD:0001818 ! Desbuquois syndrome UMLS:C0432242 DOID:0060462 ! Desbuquois dysplasia,OMIM:251450 ! Desbuquois Dysplasia 1
GARD:0001820 ! Desmoid tumor UMLS:C1851124 OMIM:135290 ! Desmoid Disease, Hereditary,Orphanet:873 ! Desmoid tumor
GARD:0001823 ! Developmental dysphasia familial UMLS:C1838630 OMIM:600117 ! Familial developmental dysphasia
GARD:0001827 ! Dextrocardia UMLS:C0011813 DOID:9565 ! dextrocardia
GARD:0001839 ! Transient neonatal diabetes mellitus UMLS:C1832386 DOID:0060334 ! transient neonatal diabetes mellitus,OMIM:601410 ! Diabetes Mellitus, Transient Neonatal, 1
GARD:0001850 ! Immunodysregulation, polyendocrinopathy and enteropathy X-linked Orphanet:37042 ! Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome OMIM:304790 ! Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
GARD:0001850 ! Immunodysregulation, polyendocrinopathy and enteropathy X-linked UMLS:C0342288 OMIM:304790 ! Immunodysregulation, Polyendocrinopathy, and Enteropathy, X-Linked
GARD:0001861 ! Diffuse neonatal hemangiomatosis UMLS:C0474965 Orphanet:2123 ! Diffuse neonatal hemangiomatosis
GARD:0001862 ! Diffuse palmoplantar keratoderma, Bothnian type UMLS:C1838359 OMIM:600231 ! Palmoplantar Keratoderma, Bothnian Type
GARD:0001864 ! Digitorenocerebral syndrome OMIM:222760 OMIM:220500 ! DOORS syndrome
GARD:0001864 ! Digitorenocerebral syndrome Orphanet:1674 OMIM:220500 ! DOORS syndrome
GARD:0001864 ! Digitorenocerebral syndrome UMLS:C0795934 OMIM:220500 ! DOORS syndrome
GARD:0001868 ! Dincsoy-Salih-Patel syndrome Orphanet:1678 OMIM:601016 ! Midline Malformations, Multiple, With Limb Abnormalities and Hypopituitarism
GARD:0001868 ! Dincsoy-Salih-Patel syndrome UMLS:C1832874 OMIM:601016 ! Midline Malformations, Multiple, With Limb Abnormalities and Hypopituitarism
GARD:0001875 ! Diphtheria UMLS:C0012546 DOID:11405 ! diphtheria
GARD:0001878 ! Chromosome 1, uniparental disomy 1q12 q21 UMLS:C2931726 MESH:C538085 ! Chromosome 1, uniparental disomy 1q12 q21
GARD:0001883 ! Dissecting cellulitis of the scalp UMLS:C0263506 OMIM:260910 ! Dissecting cellulitis of the scalp
GARD:0001884 ! Distal arthrogryposis Moore Weaver type OMIM:601680 ! Arthrogryposis, Distal, Type 2B MESH:C536814 ! Distal arthrogryposis Moore Weaver type
GARD:0001891 ! Distomatosis UMLS:C0040820 Orphanet:1685 ! Distomatosis
GARD:0001894 ! DK phocomelia syndrome UMLS:C1857226 OMIM:223340 ! Von Voss-Cherstvoy syndrome
GARD:0001898 ! Cataract, zonular UMLS:C0266537 OMIM:116800 ! Cataract 5, Multiple Types,Orphanet:98995 ! Zonular cataract
GARD:0001902 ! Tyrosine hydroxylase deficiency UMLS:C1854299 OMIM:605407 ! Autosomal recessive dopa-responsive dystonia
GARD:0001908 ! Double outlet right ventricle UMLS:C0013069 OMIM:217095 ! double outlet right ventricle
GARD:0001913 ! Drachtman Weinblatt Sitarz syndrome UMLS:C2930947 MESH:C535603 ! Drachtman Weinblatt Sitarz syndrome
GARD:0001917 ! Dermatitis herpetiformis UMLS:C0011608 DOID:8505 ! dermatitis herpetiformis,OMIM:601230 ! Dermatitis Herpetiformis, Familial
GARD:0001918 ! Duker Weiss Siber syndrome UMLS:C2930993 MESH:C535719 ! Duker Weiss Siber syndrome
GARD:0001989 ! Dwarfism stiff joint ocular abnormalities Orphanet:2569 OMIM:127200 ! Dwarfism With Stiff Joints and Ocular Abnormalities
GARD:0001989 ! Dwarfism stiff joint ocular abnormalities UMLS:C0265349 OMIM:127200 ! Dwarfism With Stiff Joints and Ocular Abnormalities
GARD:0001990 ! Syndesmodysplasic dwarfism Orphanet:2654 OMIM:272450 ! Syndesmodysplasic Dwarfism
GARD:0001990 ! Syndesmodysplasic dwarfism UMLS:C1848946 OMIM:272450 ! Syndesmodysplasic Dwarfism
GARD:0001991 ! Dwarfism tall vertebrae Orphanet:2661 OMIM:126950 ! Dwarfism With Tall Vertebrae
GARD:0001991 ! Dwarfism tall vertebrae UMLS:C1851996 OMIM:126950 ! Dwarfism With Tall Vertebrae
GARD:0001994 ! Dyschondrosteosis nephritis UMLS:C1851986 OMIM:127350 ! Dyschondrosteosis - nephritis
GARD:0001996 ! Dyschromatosis universalis hereditaria UMLS:C2930995 DOID:0060304 ! dyschromatosis universalis hereditaria
GARD:0002001 ! Congenital dyserythropoietic anemia type 2 Orphanet:98873 ! Congenital dyserythropoietic anemia type II OMIM:224100 ! Anemia, Congenital Dyserythropoietic, Type 2
GARD:0002001 ! Congenital dyserythropoietic anemia type 2 UMLS:C1306589 OMIM:224100 ! Anemia, Congenital Dyserythropoietic, Type 2
GARD:0002002 ! Congenital dyserythropoietic anemia type 3 Orphanet:98870 ! Congenital dyserythropoietic anemia type III OMIM:105600 ! Anemia, Congenital Dyserythropoietic, Type 3
GARD:0002002 ! Congenital dyserythropoietic anemia type 3 UMLS:C0271934 OMIM:105600 ! Anemia, Congenital Dyserythropoietic, Type 3
GARD:0002003 ! Dysferlinopathy OMIM:603009 MESH:C537995 ! Dysferlinopathy
GARD:0002003 ! Dysferlinopathy UMLS:C2931687 MESH:C537995 ! Dysferlinopathy
GARD:0002004 ! Dysfibrinogenemia OMIM:202400 ! congenital afibrinogenemia OMIM:616004 ! Dysfibrinogenemia, Congenital,Orphanet:98881 ! Familial dysfibrinogenemia
GARD:0002005 ! Germinoma Orphanet:182127 ! Extragonadal germinoma DOID:3304 ! germinoma
GARD:0002005 ! Germinoma UMLS:C0206660 DOID:3304 ! germinoma
GARD:0002007 ! Dyskeratosis congenita X-linked OMIM:305000 ! Hoyeraal-Hreidarsson syndrome OMIM:300067 ! Lissencephaly, X-Linked, 1
GARD:0002007 ! Dyskeratosis congenita X-linked Orphanet:1775 OMIM:300067 ! Lissencephaly, X-Linked, 1
GARD:0002007 ! Dyskeratosis congenita X-linked UMLS:C1148551 OMIM:300067 ! Lissencephaly, X-Linked, 1
GARD:0002013 ! Dysostosis acral with facial and genital abnormalities UMLS:C0265205 DOID:0060254 ! Robinow syndrome,OMIM:180700 ! Robinow Syndrome, Autosomal Dominant 1
GARD:0002015 ! Dysostosis peripheral UMLS:C0220659 OMIM:170700 ! Peripheral dysostosis
GARD:0002016 ! Craniofacial dysostosis with diaphyseal hyperplasia Orphanet:1798 ! Dysostosis, Stanescu type OMIM:122900 ! Craniofacial Dysostosis With Diaphyseal Hyperplasia
GARD:0002016 ! Craniofacial dysostosis with diaphyseal hyperplasia UMLS:C0432263 OMIM:122900 ! Craniofacial Dysostosis With Diaphyseal Hyperplasia
GARD:0002025 ! Dyssegmental dysplasia and glaucoma UMLS:C1832111 OMIM:601561 ! Dyssegmental dysplasia - glaucoma
GARD:0002028 ! Dystonia 2, torsion, autosomal recessive Orphanet:99657 ! Primary dystonia, DYT2 type OMIM:224500 ! Dystonia 2, Torsion, Autosomal Recessive
GARD:0002028 ! Dystonia 2, torsion, autosomal recessive UMLS:C1857093 OMIM:224500 ! Dystonia 2, Torsion, Autosomal Recessive
GARD:0002033 ! Meier-Gorlin syndrome UMLS:C1868684 DOID:0060306 ! Meier-Gorlin syndrome,OMIM:224690 ! Meier-Gorlin Syndrome 1
GARD:0002034 ! Thickened earlobes with conductive deafness from incus-stapes abnormalities OMIM:128980 ! Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities MESH:C536511 ! Schweitzer Kemink Graham syndrome
GARD:0002034 ! Thickened earlobes with conductive deafness from incus-stapes abnormalities UMLS:C2931222 MESH:C536511 ! Schweitzer Kemink Graham syndrome
GARD:0002035 ! Ebola virus disease UMLS:C0282687 DOID:4325 ! Ebola hemorrhagic fever
GARD:0002038 ! Basan syndrome Orphanet:1235 OMIM:129200 ! Adermatoglyphia With Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities
GARD:0002038 ! Basan syndrome UMLS:C0406707 OMIM:129200 ! Adermatoglyphia With Congenital Facial Milia and Acral Blisters, Digital Contractures, and Nail Abnormalities
GARD:0002039 ! Ectodermal dysplasia adrenal cyst Orphanet:3391 OMIM:129550 ! Ectodermal Dysplasia With Adrenal Cyst
GARD:0002039 ! Ectodermal dysplasia adrenal cyst UMLS:C1851850 OMIM:129550 ! Ectodermal Dysplasia With Adrenal Cyst
GARD:0002040 ! Ectodermal dysplasia alopecia preaxial polydactyly OMIM:129540 ! Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance and Preaxial Polydactyly of Feet MESH:C538016 ! Ectodermal dysplasia alopecia preaxial polydactyly
GARD:0002040 ! Ectodermal dysplasia alopecia preaxial polydactyly UMLS:C2931691 MESH:C538016 ! Ectodermal dysplasia alopecia preaxial polydactyly
GARD:0002048 ! Hypohidrotic ectodermal dysplasia autosomal dominant UMLS:C1720965 OMIM:129490 ! Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant,OMIM:614940 ! Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant,Orphanet:1810 ! Autosomal dominant hypohidrotic ectodermal dysplasia
GARD:0002049 ! Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia UMLS:C1857052 OMIM:225050 ! Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia
GARD:0002052 ! Ectodermal dysplasia mental retardation syndactyly UMLS:C1833169 OMIM:600906 ! Ectodermal Dysplasia With Mental Retardation and Syndactyly
GARD:0002053 ! Ectodermal dysplasia neurosensory deafness UMLS:C1857068 OMIM:224800 ! Ectodermal Dysplasia and Neurosensory Deafness
GARD:0002055 ! Ectodermal dysplasia trichoodontoonychial type UMLS:C1851858 OMIM:129510 ! Ectodermal dysplasia, trichoodontoonychial type
GARD:0002060 ! Ectopia lentis, isolated autosomal recessive OMIM:225100 ! Ectopia Lentis 2, Isolated, Autosomal Recessive MESH:C567124 ! Ectopia Lentis, Isolated, Autosomal Recessive
GARD:0002060 ! Ectopia lentis, isolated autosomal recessive UMLS:C2673634 MESH:C567124 ! Ectopia Lentis, Isolated, Autosomal Recessive
GARD:0002063 ! Ectrodactyly cardiopathy dysmorphism UMLS:C2931127 MESH:C536187 ! Ectrodactyly cardiopathy dysmorphism
GARD:0002064 ! Ectrodactyly cleft palate syndrome Orphanet:1889 OMIM:129830 ! Ectrodactyly-Cleft Palate Syndrome
GARD:0002064 ! Ectrodactyly cleft palate syndrome UMLS:C1851848 OMIM:129830 ! Ectrodactyly-Cleft Palate Syndrome
GARD:0002068 ! Ectrodactyly polydactyly UMLS:C1857040 OMIM:225290 ! Ectrodactyly - polydactyly
GARD:0002074 ! Edinburgh malformation syndrome UMLS:C0795933 OMIM:129850 ! Edinburgh Malformation Syndrome
GARD:0002076 ! EEC syndrome OMIM:268650 ! Rudiger Syndrome OMIM:129900 ! Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome 1,Orphanet:1896 ! EEC syndrome
GARD:0002077 ! Ectrodactyly and ectodermal dysplasia without cleft lip/palate Orphanet:1888 OMIM:129810 ! Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/Palate
GARD:0002077 ! Ectrodactyly and ectodermal dysplasia without cleft lip/palate UMLS:C1851849 OMIM:129810 ! Ectrodactyly and Ectodermal Dysplasia Without Cleft Lip/Palate
GARD:0002081 ! Ehlers-Danlos syndrome, hypermobility type UMLS:C0268337 OMIM:130020 ! Ehlers-Danlos syndrome, hypermobility type
GARD:0002082 ! Ehlers-Danlos syndrome, vascular type UMLS:C0268338 OMIM:130050 ! autosomal dominant type IV Ehlers-Danlos syndrome
GARD:0002083 ! Ehlers-Danlos syndrome, kyphoscoliosis type UMLS:C0268342 OMIM:225400 ! Ehlers-Danlos syndrome, kyphoscoliotic type
GARD:0002084 ! Ehlers-Danlos syndrome, arthrochalasia type UMLS:C0268345 OMIM:130060 ! Ehlers-Danlos Syndrome, Type Vii, Autosomal Dominant,Orphanet:1899 ! Ehlers-Danlos syndrome, arthrochalasic type
GARD:0002096 ! Acrocephalopolydactylous dysplasia Orphanet:221054 ! Acrocephalopolydactyly OMIM:200995 ! Acrocephalopolydactylous Dysplasia
GARD:0002096 ! Acrocephalopolydactylous dysplasia UMLS:C1860157 OMIM:200995 ! Acrocephalopolydactylous Dysplasia
GARD:0002098 ! Ellis Yale Winter syndrome OMIM:601355 ! Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs MESH:C536205 ! Ellis Yale Winter syndrome
GARD:0002098 ! Ellis Yale Winter syndrome Orphanet:2516 ! Microcephaly - cardiac defect - lung malsegmentation MESH:C536205 ! Ellis Yale Winter syndrome
GARD:0002098 ! Ellis Yale Winter syndrome UMLS:C2931129 MESH:C536205 ! Ellis Yale Winter syndrome
GARD:0002113 ! Encephalopathy intracranial calcification growth hormone deficiency microcephaly retinal degeneration UMLS:C1856973 OMIM:225755 ! Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
GARD:0002117 ! Encephalopathy recurrent of childhood UMLS:C1851708 OMIM:130950 ! Encephalopathy, Recurrent, of Childhood
GARD:0002123 ! Eng Strom syndrome Orphanet:1937 MESH:C537603 ! Short stature and locking fingers
GARD:0002125 ! Glycogen storage disease type 13 Orphanet:99849 ! Glycogen storage disease due to muscle beta-enolase deficiency OMIM:612932 ! Glycogen Storage Disease 13
GARD:0002125 ! Glycogen storage disease type 13 UMLS:C2752027 OMIM:612932 ! Glycogen Storage Disease 13
GARD:0002141 ! Epidermolysis bullosa simplex, Dowling-Meara type UMLS:C0079295 OMIM:131760 ! Epidermolysis bullosa simplex, Dowling-Meara type
GARD:0002147 ! Epidermolysis bullosa simplex, generalized UMLS:C0079299 OMIM:131900 ! Epidermolysis Bullosa Simplex, Generalized
GARD:0002151 ! Junctional epidermolysis bullosa, non-Herlitz type Orphanet:79402 ! Generalized junctional epidermolysis bullosa, non-Herlitz type OMIM:226650 ! Epidermolysis Bullosa, Junctional, Non-Herlitz Type,Orphanet:89840 ! Junctional epidermolysis bullosa, non-Herlitz type
GARD:0002152 ! Junctional epidermolysis bullosa UMLS:C0079301 DOID:3209 ! junctional epidermolysis bullosa
GARD:0002155 ! Epidermolysis bullosa, pretibial UMLS:C0432321 OMIM:131850 ! Pretibial dystrophic epidermolysis bullosa
GARD:0002162 ! Epilepsy juvenile absence OMIM:607631 ! Epilepsy, Juvenile Absence, Susceptibility To, 1 DOID:0060172 ! juvenile absence epilepsy
GARD:0002166 ! Epilepsy occipital calcifications UMLS:C1856930 OMIM:226810 ! Epilepsy With Bilateral Occipital Calcifications,Orphanet:1459 ! Celiac disease, epilepsy and cerebral calcification syndrome
GARD:0002167 ! Epilepsy progressive myoclonic type 3 UMLS:C2673257 OMIM:611726 ! Epilepsy, Progressive Myoclonic, 3, With or Without Intracellular Inclusions,Orphanet:263516 ! Progressive myoclonic epilepsy type 3
GARD:0002191 ! Erythroderma desquamativa of Leiner OMIM:120900 MESH:C535512 ! Erythroderma desquamativa of Leiner
GARD:0002191 ! Erythroderma desquamativa of Leiner UMLS:C2930920 MESH:C535512 ! Erythroderma desquamativa of Leiner
GARD:0002197 ! Esthesioneuroblastoma UMLS:C0206717 Orphanet:1957 ! Esthesioneuroblastoma
GARD:0002199 ! Exencephaly UMLS:C0266453 OMIA:000352 ! Exencephaly
GARD:0002202 ! Exostoses anetodermia brachydactyly type E UMLS:C1851428 OMIM:133690 ! Exostoses - anetodermia - brachydactyly type E
GARD:0002216 ! Eyebrows duplication of, with stretchable skin and syndactyly UMLS:C1856896 OMIM:227210 ! Eyebrows, Duplication Of, With Stretchable Skin and Syndactyly
GARD:0002221 ! FACES syndrome Orphanet:1969 MESH:C536384 ! FACES syndrome
GARD:0002221 ! FACES syndrome UMLS:C2931183 MESH:C536384 ! FACES syndrome
GARD:0002222 ! Dandy-Walker malformation with mental retardation, macrocephaly, myopia and brachytelephalangy UMLS:C1857352 OMIM:220219 ! Dandy-Walker Malformation With Mental Retardation, Macrocephaly, Myopia, and Brachytelephalangy
GARD:0002228 ! Facio thoraco genital syndrome UMLS:C2931184 OMIM:227320 ! Faciothoracogenital Syndrome
GARD:0002229 ! Faciocardiomelic dysplasia lethal UMLS:C1856891 OMIM:227270 ! Lethal faciocardiomelic dysplasia
GARD:0002237 ! Factor V deficiency Orphanet:326 ! Congenital factor V deficiency OMIM:227400 ! factor V deficiency
GARD:0002237 ! Factor V deficiency UMLS:C0015499 OMIM:227400 ! factor V deficiency
GARD:0002238 ! Factor VII deficiency Orphanet:327 ! Congenital factor VII deficiency DOID:2215 ! factor VII deficiency,MESH:D005168 ! Factor VII Deficiency,OMIA:000361 ! Factor VII deficiency,OMIM:227500 ! Factor 7 Deficiency
GARD:0002238 ! Factor VII deficiency UMLS:C0015503 DOID:2215 ! factor VII deficiency,MESH:D005168 ! Factor VII Deficiency,OMIA:000361 ! Factor VII deficiency,OMIM:227500 ! Factor 7 Deficiency
GARD:0002241 ! Factor XI deficiency, congenital UMLS:C0015523 OMIM:612416 ! factor XI deficiency
GARD:0002245 ! Tetralogy of Fallot UMLS:C0039685 OMIA:000994 ! Tetralogy of fallot,OMIM:187500 ! tetralogy of Fallot
GARD:0002249 ! Familial thoracic aortic aneurysm and dissection UMLS:C0345050 Orphanet:285014 ! Rare disease with thoracic aortic aneurysm and aortic dissection,Orphanet:91387 ! Familial thoracic aortic aneurysm and aortic dissection
GARD:0002258 ! Familial porencephaly UMLS:C1867983 DOID:0060263 ! porencephaly
GARD:0002259 ! Supernumerary nipples UMLS:C0266011 OMIM:163700 ! Familial supernumerary nipples
GARD:0002263 ! Familial ventricular tachycardia UMLS:C0340485 OMIM:192605 ! Ventricular Tachycardia, Familial
GARD:0002268 ! Fanconi Bickel syndrome Orphanet:2088 ! Glycogen storage disease due to GLUT2 deficiency OMIM:227810 ! Fanconi-Bickel Syndrome
GARD:0002270 ! Fanconi like syndrome UMLS:C0151638 OMIM:227850 ! Fanconi-Like Syndrome
GARD:0002273 ! Fara Chlupackova syndrome UMLS:C2931416 MESH:C537074 ! Fara Chlupackova syndrome
GARD:0002277 ! Faye-Petersen-Ward-Carey syndrome OMIM:166990 ! Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, and Hypertension MESH:C537076 ! Faye-Petersen Ward Carey syndrome
GARD:0002277 ! Faye-Petersen-Ward-Carey syndrome UMLS:C2931417 MESH:C537076 ! Faye-Petersen Ward Carey syndrome
GARD:0002279 ! Feigenbaum Bergeron Richardson syndrome Orphanet:1192 ! Atherosclerosis - deafness - diabetes - epilepsy - nephropathy MESH:C536178 ! Feigenbaum Bergeron Richardson syndrome,OMIM:209010 ! Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, and Degenerative Neurologic Disease
GARD:0002282 ! Feingold Trainer syndrome UMLS:C2931126 MESH:C536179 ! Feingold Trainer syndrome
GARD:0002286 ! Femur fibula ulna syndrome Orphanet:2019 ! Femur-fibula-ulna complex OMIM:228200 ! Femur-Fibula-Ulna Syndrome
GARD:0002286 ! Femur fibula ulna syndrome UMLS:C1856790 OMIM:228200 ! Femur-Fibula-Ulna Syndrome
GARD:0002293 ! Fetal akinesia syndrome X-linked UMLS:C1848171 OMIM:300073 ! Fetal Akinesia Syndrome, X-Linked
GARD:0002317 ! FG syndrome Orphanet:323 DOID:14711 ! FG syndrome,OMIM:305450 ! Opitz-Kaveggia Syndrome
GARD:0002317 ! FG syndrome UMLS:C0220769 DOID:14711 ! FG syndrome,OMIM:305450 ! Opitz-Kaveggia Syndrome
GARD:0002320 ! Fibrinogen deficiency, congenital UMLS:C2062367 Orphanet:335 ! Congenital fibrinogen deficiency
GARD:0002321 ! Fibrochondrogenesis UMLS:C0265282 DOID:0060465 ! fibrochondrogenesis
GARD:0002322 ! Birt-Hogg-Dube syndrome Orphanet:122 ! Birt-Hogg-DubC) syndrome OMIM:135150 ! Birt-Hogg-Dube syndrome
GARD:0002324 ! Gingival fibromatosis with hypertrichosis UMLS:C1851120 OMIM:135400 ! Gingival fibromatosis-hypertrichosis syndrome
GARD:0002327 ! Fibrosarcoma UMLS:C0016057 DOID:3355 ! fibrosarcoma
GARD:0002342 ! Fitzsimmons Walson Mellor syndrome OMIM:182690 ! Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, and Progressive Nephropathy MESH:C537937 ! Fitzsimmons Walson Mellor syndrome
GARD:0002342 ! Fitzsimmons Walson Mellor syndrome Orphanet:2820 ! Spastic paraplegia - nephritis - deafness MESH:C537937 ! Fitzsimmons Walson Mellor syndrome
GARD:0002342 ! Fitzsimmons Walson Mellor syndrome UMLS:C2931667 MESH:C537937 ! Fitzsimmons Walson Mellor syndrome
GARD:0002343 ! Fitzsimmons-Guilbert syndrome Orphanet:2823 ! Paraplegia - brachydactyly - cone-shaped epiphysis OMIM:270710 ! Fitzsimmons-Guilbert Syndrome
GARD:0002351 ! Foix Chavany Marie syndrome UMLS:C2931412 MESH:C537069 ! Foix Chavany Marie syndrome
GARD:0002356 ! Follicular lymphoma OMIM:151430 DOID:0050873 ! follicular lymphoma
GARD:0002356 ! Follicular lymphoma UMLS:C0024301 DOID:0050873 ! follicular lymphoma
GARD:0002365 ! Fowler's syndrome UMLS:C2931462 MESH:C537271 ! Fowler Christmas Chapple syndrome,Orphanet:2795 ! Polycystic ovaries - urethral sphincter dysfunction
GARD:0002371 ! Franceschini Vardeu Guala syndrome UMLS:C2931463 MESH:C537272 ! Franceschini Vardeu Guala syndrome
GARD:0002373 ! Fraser Jequier Chen syndrome UMLS:C2930912 MESH:C535481 ! Fraser Jequier Chen syndrome
GARD:0002374 ! Fraser like syndrome Orphanet:2051 OMIM:229230 ! Fraser-Like Syndrome
GARD:0002374 ! Fraser like syndrome UMLS:C1856708 OMIM:229230 ! Fraser-Like Syndrome
GARD:0002375 ! Frasier syndrome UMLS:C0950122 OMIM:136680 ! Frasier syndrome
GARD:0002380 ! Freiberg's disease UMLS:C0264099 MESH:C535636 ! Freiberg's disease
GARD:0002381 ! Freire-Maia odontotrichomelic syndrome UMLS:C2930960 MESH:C535637 ! Freire-Maia odontotrichomelic syndrome
GARD:0002384 ! Frias syndrome Orphanet:137862 OMIM:609640 ! Frias Syndrome
GARD:0002384 ! Frias syndrome UMLS:C1864825 OMIM:609640 ! Frias Syndrome
GARD:0002418 ! Furunculous myiasis UMLS:C2931766 Orphanet:591 ! Furuncular myiasis
GARD:0002422 ! Galactokinase deficiency UMLS:C0268155 OMIM:230200 ! galactokinase deficiency
GARD:0002427 ! Game Friedman Paradice syndrome UMLS:C1856052 OMIM:236640 ! Hydrocephalus With Associated Malformations,Orphanet:3035 ! Growth delay - hydrocephaly - lung hypoplasia
GARD:0002429 ! Limb-girdle muscular dystrophy, type 2C Orphanet:353 ! Autosomal recessive limb-girdle muscular dystrophy type 2C OMIM:253700 ! Muscular Dystrophy, Limb-Girdle, Type 2C
GARD:0002429 ! Limb-girdle muscular dystrophy, type 2C UMLS:C0410173 OMIM:253700 ! Muscular Dystrophy, Limb-Girdle, Type 2C
GARD:0002430 ! Ganglioglioma UMLS:C0206716 DOID:5078 ! ganglioglioma
GARD:0002432 ! Leiomyomatosis, esophageal and vulval, with nephropathy UMLS:C1839884 OMIM:308940 ! Leiomyomatosis, Diffuse, With Alport Syndrome
GARD:0002435 ! Garret Tripp syndrome Orphanet:2914 MESH:C535646 ! Garret Tripp syndrome
GARD:0002435 ! Garret Tripp syndrome UMLS:C2930965 MESH:C535646 ! Garret Tripp syndrome
GARD:0002437 ! Gastro-enteropancreatic neuroendocrine tumor UMLS:C2930967 MESH:C535650 ! Gastro-enteropancreatic neuroendocrine tumor
GARD:0002445 ! Gaucher-like disease OMIM:231005 ! Gaucher Disease, Type 3C MESH:C537675 ! Gaucher-like disease
GARD:0002445 ! Gaucher-like disease UMLS:C2931585 MESH:C537675 ! Gaucher-like disease
GARD:0002446 ! Gay Feinmesser Cohen syndrome OMIM:185400 MESH:C537676 ! Gay Feinmesser Cohen syndrome
GARD:0002446 ! Gay Feinmesser Cohen syndrome UMLS:C2931586 MESH:C537676 ! Gay Feinmesser Cohen syndrome
GARD:0002447 ! Green Sandford Davison syndrome OMIM:601446 MESH:C538221 ! Green Sandford Davison syndrome
GARD:0002449 ! Geleophysic dwarfism OMIM:231050 ! Geleophysic Dysplasia 1 DC:0000524 ! Geleophysic Dysplasia
GARD:0002449 ! Geleophysic dwarfism UMLS:C0265287 DC:0000524 ! Geleophysic Dysplasia
GARD:0002451 ! Gemignani syndrome Orphanet:2074 MESH:C537678 ! Gemignani syndrome
GARD:0002451 ! Gemignani syndrome UMLS:C2931587 MESH:C537678 ! Gemignani syndrome
GARD:0002452 ! Glaucoma, Ectopia, Microspherophakia, Stiff joints and Short stature syndrome OMIM:137765 Orphanet:2084 ! Glaucoma - ectopia - microspherophakia - stiff joints - short stature
GARD:0002456 ! Mycobacterium tuberculosis, susceptibility to infection by OMIM:607948 ! Mycobacterium Tuberculosis, Susceptibility to MESH:C536092 ! Mycobacterium tuberculosis, susceptibility to infection by
GARD:0002456 ! Mycobacterium tuberculosis, susceptibility to infection by UMLS:C2936833 MESH:C536092 ! Mycobacterium tuberculosis, susceptibility to infection by
GARD:0002470 ! Giant platelet syndrome Orphanet:274 OMIM:231200 ! Bernard-Soulier Syndrome
GARD:0002474 ! Gingival fibromatosis, 2 UMLS:C1854181 OMIM:605544 ! Fibromatosis, Gingival, 2
GARD:0002475 ! Gingival fibromatosis, 4 UMLS:C1970245 OMIM:611010 ! Fibromatosis, Gingival, 4
GARD:0002478 ! Glanzmann thrombasthenia UMLS:C0040015 OMIM:273800 ! Glanzmann's thrombasthenia
GARD:0002483 ! Glaucoma sleep apnea UMLS:C1842025 OMIM:137763 ! Glaucoma - sleep apnea
GARD:0002485 ! Glaucoma, congenital UMLS:C0020302 OMIM:231300 ! Glaucoma 3, Primary Congenital, a,Orphanet:98976 ! Congenital glaucoma
GARD:0002490 ! Glaucoma 3 primary infantile B Orphanet:156005 ! Primary glaucoma OMIM:600975 ! Glaucoma 3, Primary Infantile, B
GARD:0002492 ! Glomerulonephritis with sparse hair and telangiectases UMLS:C1841989 OMIM:137940 ! Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
GARD:0002499 ! Glucocorticoid resistance UMLS:C1841971 OMIM:615962 ! Glucocorticoid Resistance, Generalized,Orphanet:786 ! Glucocorticoid resistance
GARD:0002501 ! Glucose-6-phosphate translocase deficiency OMIM:602671 MESH:C536831 ! Glucose-6-phosphate translocase deficiency
GARD:0002501 ! Glucose-6-phosphate translocase deficiency UMLS:C2931345 MESH:C536831 ! Glucose-6-phosphate translocase deficiency
GARD:0002510 ! Glyceraldehyde-3-phosphate dehydrogenase deficiency OMIM:138400 MESH:C536837 ! Glyceraldehyde-3-phosphate dehydrogenase deficiency
GARD:0002510 ! Glyceraldehyde-3-phosphate dehydrogenase deficiency UMLS:C1291264 MESH:C536837 ! Glyceraldehyde-3-phosphate dehydrogenase deficiency
GARD:0002513 ! Glycogen storage disease type 0, liver Orphanet:2089 ! Glycogen storage disease due to hepatic glycogen synthase deficiency OMIM:240600 ! Glycogen Storage Disease 0, Liver
GARD:0002515 ! Glycogen storage disease type 1B UMLS:C0268146 OMIM:232220 ! Glycogen Storage Disease Ib,Orphanet:79259 ! Glycogen storage disease due to glucose-6-phosphatase deficiency type b
GARD:0002523 ! Gms syndrome UMLS:C1841854 OMIM:138770 ! GMS syndrome
GARD:0002532 ! Trichomegaly, cataract, and hereditary spherocytosis Orphanet:3362 ! obsolete Trichomegaly - cataract - hereditary spherocytosis MESH:C537282 ! Goldstein Hutt syndrome,OMIM:190330 ! Trichomegaly
GARD:0002532 ! Trichomegaly, cataract, and hereditary spherocytosis UMLS:C2931465 MESH:C537282 ! Goldstein Hutt syndrome,OMIM:190330 ! Trichomegaly
GARD:0002533 ! Gollop Coates syndrome OMIM:143095 ! Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations MESH:C537283 ! Gollop Coates syndrome
GARD:0002533 ! Gollop Coates syndrome UMLS:C2931466 MESH:C537283 ! Gollop Coates syndrome
GARD:0002537 ! GOMBO syndrome UMLS:C1856274 OMIM:233270 ! Gombo Syndrome
GARD:0002538 ! Gonadal dysgenesis UMLS:C0018051 DOID:14447 ! gonadal dysgenesis,MESH:D006059 ! Gonadal Dysgenesis
GARD:0002539 ! Gonadal dysgenesis mixed UMLS:C0018055 DOID:14449 ! mixed gonadal dysgenesis
GARD:0002541 ! Gonadal dysgenesis XY type associated anomalies UMLS:C1856272 OMIM:233430 ! Gonadal dysgenesis, XY type - associated anomalies
GARD:0002549 ! Goodman syndrome UMLS:C0265303 OMIM:201020 ! Goodman syndrome
GARD:0002553 ! Gordon syndrome UMLS:C0220666 OMIM:114300 ! Gordon syndrome
GARD:0002555 ! Gorlin Bushkell Jensen syndrome OMIM:151600 ! nonsyndromic congenital nail disorder 3 MESH:C537289 ! Gorlin Bushkell Jensen syndrome
GARD:0002555 ! Gorlin Bushkell Jensen syndrome UMLS:C2931467 MESH:C537289 ! Gorlin Bushkell Jensen syndrome
GARD:0002557 ! Graham Boyle Troxell syndrome Orphanet:2111 MESH:C537292 ! Graham Boyle Troxell syndrome
GARD:0002557 ! Graham Boyle Troxell syndrome UMLS:C2931468 MESH:C537292 ! Graham Boyle Troxell syndrome
GARD:0002568 ! Groll Hirschowitz syndrome UMLS:C1857338 OMIM:221400 ! Deafness, Nerve Type, With Mesenteric Diverticula of Small Bowel and Progressive Sensory Neuropathy,Orphanet:3217 ! Deafness - small bowel diverticulosis - neuropathy
GARD:0002578 ! Guanidinoacetate methyltransferase deficiency UMLS:C0574080 OMIM:612736 ! guanidinoacetate methyltransferase deficiency
GARD:0002579 ! Osteopetrosis autosomal recessive 1 UMLS:C1850127 OMIM:259700 ! Osteopetrosis, Autosomal Recessive 1
GARD:0002580 ! Dermoids of cornea UMLS:C1844671 OMIM:304730 ! Dermoids of Cornea
GARD:0002582 ! Hair defect with photosensitivity and mental retardation Orphanet:1408 ! Hair defect - photosensitivity - intellectual disability OMIM:234030 ! Hair Defect With Photosensitivity and Mental Retardation
GARD:0002582 ! Hair defect with photosensitivity and mental retardation UMLS:C1856241 OMIM:234030 ! Hair Defect With Photosensitivity and Mental Retardation
GARD:0002586 ! Hall Riggs mental retardation syndrome UMLS:C1856198 OMIM:234250 ! Hall-Riggs Mental Retardation Syndrome
GARD:0002589 ! Hamanishi Ueba Tsuji syndrome OMIM:207740 ! Aplasia of Extensor Muscles of Fingers, Unilateral, With Generalized Polyneuropathy MESH:C535624 ! Hamanishi Ueba Tsuji syndrome
GARD:0002589 ! Hamanishi Ueba Tsuji syndrome Orphanet:2926 ! Polyneuropathy - hand defect MESH:C535624 ! Hamanishi Ueba Tsuji syndrome
GARD:0002589 ! Hamanishi Ueba Tsuji syndrome UMLS:C2930955 MESH:C535624 ! Hamanishi Ueba Tsuji syndrome
GARD:0002593 ! Hand and foot deformity with flat facies Orphanet:1927 ! Emery-Nelson syndrome OMIM:139750 ! Hand and Foot Deformity With Flat Facies
GARD:0002593 ! Hand and foot deformity with flat facies UMLS:C1841693 OMIM:139750 ! Hand and Foot Deformity With Flat Facies
GARD:0002597 ! Tendons, extensor, of fingers, anomalous insertion of Orphanet:3294 ! Extensor tendons of finger anomalies OMIM:187390 ! Tendons, Extensor, of Fingers, Anomalous Insertion of
GARD:0002598 ! Hard skin syndrome Parana type UMLS:C1850079 OMIM:260530 ! Parana hard-skin syndrome
GARD:0002599 ! Walker-Warburg syndrome UMLS:C0265221 DOID:0050560 ! Walker-Warburg syndrome,MESH:D058494 ! Walker-Warburg Syndrome
GARD:0002601 ! Harrod Doman Keele syndrome UMLS:C0795970 MESH:C535635 ! Harrod Doman Keele syndrome,OMIM:601095 ! Harrod syndrome
GARD:0002605 ! Pterygia, mental retardation and distinctive craniofacial features UMLS:C1867443 OMIM:177980 ! Pterygia, Mental Retardation, and Distinctive Craniofacial Features
GARD:0002610 ! Progressive familial heart block type 1B Orphanet:871 ! Familial progressive cardiac conduction defect OMIM:604559 ! Progressive Familial Heart Block, Type 1B
GARD:0002610 ! Progressive familial heart block type 1B UMLS:C1970298 OMIM:604559 ! Progressive Familial Heart Block, Type 1B
GARD:0002613 ! Cardioskeletal syndrome Kuwaiti type UMLS:C1859327 OMIM:212135 ! Cardioskeletal Syndrome, Kuwaiti Type
GARD:0002614 ! Heart-hand syndrome, Spanish type Orphanet:1342 ! Heart-hand syndrome type 3 OMIM:140450 ! Heart-Hand Syndrome, Spanish Type
GARD:0002614 ! Heart-hand syndrome, Spanish type UMLS:C1841657 OMIM:140450 ! Heart-Hand Syndrome, Spanish Type
GARD:0002620 ! HEC syndrome UMLS:C1833607 OMIM:600559 ! HEC syndrome
GARD:0002621 ! Trismus-pseudocamptodactyly syndrome UMLS:C0265226 OMIM:158300 ! Trismus - pseudocamptodactyly
GARD:0002622 ! Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome Orphanet:2492 ! Limb transversal defect - cardiac anomaly OMIM:246570 ! Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
GARD:0002622 ! Fibular aplasia, tibial campomelia, and oligosyndactyly syndrome UMLS:C2931047 OMIM:246570 ! Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome
GARD:0002627 ! Hemangiopericytoma OMIM:234820 ! Hemangiopericytoma, Malignant DOID:264 ! hemangiopericytoma
GARD:0002627 ! Hemangiopericytoma Orphanet:2126 ! Solitary fibrous tumor DOID:264 ! hemangiopericytoma
GARD:0002630 ! Hemi 3 syndrome Orphanet:2128 ! Hemihypertrophy OMIM:235000 ! Hemihyperplasia, Isolated
GARD:0002630 ! Hemi 3 syndrome UMLS:C1856185 OMIM:235000 ! Hemihyperplasia, Isolated
GARD:0002633 ! Hemifacial hyperplasia strabismus UMLS:C1841640 OMIM:141350 ! Bencze syndrome
GARD:0002638 ! Familial hemiplegic migraine type 1 Orphanet:569 ! Familial or sporadic hemiplegic migraine OMIM:141500 ! Migraine, Familial Hemiplegic, 1
GARD:0002641 ! Hemoglobin E disease UMLS:C0238159 DOID:5379 ! hemoglobin E disease
GARD:0002642 ! Hemolytic anemia lethal congenital nonspherocytic with genital and other abnormalities UMLS:C1838120 OMIM:600461 ! Hemolytic Anemia, Lethal Congenital Nonspherocytic, With Genital and Other Abnormalities
GARD:0002657 ! Hepatoblastoma UMLS:C0206624 DOID:687 ! hepatoblastoma,MESH:D018197 ! Hepatoblastoma,OMIM:114550 ! Hepatocellular Carcinoma
GARD:0002672 ! Hersh Podruch Weisskopk syndrome UMLS:C2931737 Orphanet:1920 ! Toluene embryopathy
GARD:0002684 ! High molecular weight kininogen deficiency Orphanet:483 ! Congenital high-molecular-weight kininogen deficiency OMIM:228960 ! High Molecular Weight Kininogen Deficiency
GARD:0002690 ! Beukes familial hip dysplasia UMLS:C1840572 OMIM:142669 ! Hip dysplasia, Beukes type
GARD:0002699 ! Hirschsprung disease type 3 OMIM:600156 ! Hirschsprung Disease, Susceptibility To, 5 OMIM:613711 ! Hirschsprung Disease, Susceptibility To, 3
GARD:0002699 ! Hirschsprung disease type 3 UMLS:C2931739 OMIM:613711 ! Hirschsprung Disease, Susceptibility To, 3
GARD:0002706 ! His bundle tachycardia UMLS:C0039235 Orphanet:3283 ! His bundle tachycardia
GARD:0002714 ! Hodgkin lymphoma UMLS:C0019829 DOID:8567 ! Hodgkin's lymphoma
GARD:0002721 ! Holocarboxylase synthetase deficiency Orphanet:148 OMIM:253270 ! holocarboxylase synthetase deficiency
GARD:0002721 ! Holocarboxylase synthetase deficiency UMLS:C0268581 OMIM:253270 ! holocarboxylase synthetase deficiency
GARD:0002727 ! Steinfeld syndrome Orphanet:3186 ! Holoprosencephaly - radial heart renal anomalies OMIM:184705 ! Steinfeld Syndrome
GARD:0002728 ! Holzgreve syndrome UMLS:C1856095 OMIM:236110 ! Holzgreve Syndrome
GARD:0002730 ! Homocarnosinosis UMLS:C0268632 OMIM:236130 ! homocarnosinosis
GARD:0002736 ! Hordnes Engebretsen Knudtson syndrome UMLS:C2931100 MESH:C536067 ! Hordnes Engebretsen Knudtson syndrome
GARD:0002748 ! Humeroradial synostosis UMLS:C0431800 DOID:0060467 ! humeroradial synostosis,OMIM:143050 ! Humeroradial Synostosis,OMIM:236400 ! Humeroradial Synostosis
GARD:0002750 ! Trochlea of the humerus aplasia of UMLS:C1860773 OMIM:191000 ! Humerus trochlea aplasia
GARD:0002751 ! Hunter Carpenter Macdonald syndrome OMIM:256600 ! Neurodegeneration With Brain Iron Accumulation 2A MESH:C536071 ! Hunter Carpenter Macdonald syndrome
GARD:0002751 ! Hunter Carpenter Macdonald syndrome UMLS:C2931102 MESH:C536071 ! Hunter Carpenter Macdonald syndrome
GARD:0002756 ! Hunter Rudd Hoffmann syndrome UMLS:C1839125 OMIM:314320 ! Trigonocephaly - short stature - developmental delay,Orphanet:3365 ! Trigonocephaly - broad thumbs
GARD:0002764 ! Hydatidosis UMLS:C0013502 DOID:1496 ! echinococcosis
GARD:0002765 ! Hyde Forster Mccarthy Berry syndrome UMLS:C1848205 OMIM:300064 ! Mental Retardation, X-Linked, With Craniofacial Dysmorphism,Orphanet:2898 ! X-linked intellectual disability - plagiocephaly
GARD:0002781 ! Hydronephrosis peculiar facial expression UMLS:C0403555 DOID:0050816 ! urofacial syndrome,OMIM:236730 ! Urofacial Syndrome 1
GARD:0002787 ! Hymenolepiasis UMLS:C0020413 DOID:10074 ! hymenolepiasis
GARD:0002788 ! Hyper-IgD syndrome UMLS:C0398691 OMIM:260920 ! Hyperimmunoglobulinemia D with periodic fever
GARD:0002790 ! Glucocorticoid-remediable aldosteronism Orphanet:403 ! Familial hyperaldosteronism type I OMIM:103900 ! glucocorticoid-remediable aldosteronism
GARD:0002791 ! Hyperbilirubinemia transient familial neonatal UMLS:C0270210 OMIM:237900 ! Transient familial neonatal hyperbilirubinemia
GARD:0002796 ! Familial hypocalciuric hypercalcemia type 1 Orphanet:405 OMIM:145980 ! Familial hypocalciuric hypercalcemia type 1
GARD:0002804 ! Hypereosinophilic syndrome OMIM:131400 ! Eosinophilia, Familial OMIA:000502 ! Hypereosinophilic syndrome,OMIM:607685 ! Idiopathic hypereosinophilic syndrome,Orphanet:168956 ! Hypereosinophilic syndrome
GARD:0002807 ! Hyperglycerolemia UMLS:C0268418 OMIM:307030 ! Glycerol Kinase Deficiency,Orphanet:408 ! Isolated glycerol kinase deficiency
GARD:0002832 ! Hyperostosis cortical infantile UMLS:C0020497 OMIM:114000 ! Caffey disease
GARD:0002833 ! Hyperostosis corticalis generalisata UMLS:C0432272 OMIM:239100 ! Hyperostosis Corticalis Generalisata,Orphanet:3416 ! Hyperostosis corticalis generalisata
GARD:0002836 ! Primary hyperoxaluria type 2 UMLS:C0268165 OMIM:260000 ! Primary hyperoxaluria type 2
GARD:0002837 ! Familial isolated hyperparathyroidism Orphanet:2207 OMIM:610071 ! Hyperparathyroidism 3,Orphanet:99879 ! Familial isolated hyperparathyroidism
GARD:0002837 ! Familial isolated hyperparathyroidism UMLS:C0271846 OMIM:610071 ! Hyperparathyroidism 3,Orphanet:99879 ! Familial isolated hyperparathyroidism
GARD:0002838 ! Neonatal severe hyperparathyroidism UMLS:C1832645 OMIM:239200 ! Neonatal severe primary hyperparathyroidism
GARD:0002848 ! Hypertelorism and tetralogy of Fallot UMLS:C1855903 OMIM:239711 ! Hypertelorism and Tetralogy of Fallot
GARD:0002856 ! Hyperthermia induced defects UMLS:C0265377 Orphanet:2216 ! Maternal hyperthermia induced birth defects
GARD:0002864 ! Hypertrichosis lanuginosa, acquired UMLS:C0343072 Orphanet:2221 ! Acquired hypertrichosis lanuginosa
GARD:0002874 ! Hypoaldosteronism UMLS:C0020595 Orphanet:181419 ! Rare hypoaldosteronism,Orphanet:427 ! Familial hypoaldosteronism
GARD:0002876 ! Familial hypobetalipoproteinemia Orphanet:426 DOID:1390 ! hypobetalipoproteinemia,MESH:C566267 ! Hypobetalipoproteinemia, Familial,MESH:D006995 ! Hypobetalipoproteinemias,OMIM:200100 ! abetalipoproteinemia,OMIM:615558 ! Hypobetalipoproteinemia, Familial, 1
GARD:0002876 ! Familial hypobetalipoproteinemia UMLS:C1862596 DOID:1390 ! hypobetalipoproteinemia,MESH:C566267 ! Hypobetalipoproteinemia, Familial,MESH:D006995 ! Hypobetalipoproteinemias,OMIM:200100 ! abetalipoproteinemia,OMIM:615558 ! Hypobetalipoproteinemia, Familial, 1
GARD:0002877 ! Hypocalcemia, autosomal dominant UMLS:C0342345 Orphanet:428 ! Autosomal dominant hypocalcemia
GARD:0002882 ! Achondrogenesis OMIM:200600 ! achondrogenesis type IA DOID:0080043 ! achondrogenesis
GARD:0002882 ! Achondrogenesis OMIM:200610 ! Achondrogenesis type 2 DOID:0080043 ! achondrogenesis
GARD:0002882 ! Achondrogenesis OMIM:600972 ! achondrogenesis type IB DOID:0080043 ! achondrogenesis
GARD:0002882 ! Achondrogenesis UMLS:C0001079 DOID:0080043 ! achondrogenesis
GARD:0002893 ! Hypogonadism male mental retardation skeletal anomaly UMLS:C1843994 OMIM:307500 ! Hypogonadism, Male, With Mental Retardation and Skeletal Anomalies
GARD:0002897 ! Hypogonadism, isolated, hypogonadotropic UMLS:C0271623 OMIM:146110 ! Hypogonadotropic Hypogonadism 7 With or Without Anosmia
GARD:0002906 ! Hypomagnesemia primary UMLS:C0268448 OMIM:248250 ! Hypomagnesemia 3, Renal,Orphanet:34526 ! Familial primary hypomagnesemia
GARD:0002908 ! Hypomelia mullerian duct anomalies UMLS:C1840335 OMIM:146160 ! Hypomelia With Mullerian Duct Anomalies
GARD:0002914 ! Hypoparathyroidism X-linked UMLS:C0342344 OMIM:307700 ! Hypoparathyroidism, X-Linked
GARD:0002917 ! Hypopituitarism UMLS:C0020635 DOID:9406 ! hypopituitarism,MESH:D007018 ! Hypopituitarism
GARD:0002920 ! Hypopituitarism postaxial polydactyly Orphanet:2245 OMIM:615849 ! Culler-Jones Syndrome
GARD:0002928 ! Hypospadias mental retardation Goldblatt type UMLS:C0795989 OMIM:241760 ! Hypospadias-Mental Retardation Syndrome,Orphanet:2261 ! Hypospadias - intellectual disability, Goldblatt type
GARD:0002930 ! Hypotelorism cleft palate hypospadias UMLS:C1834038 OMIM:164220 ! Schilbach-Rott syndrome
GARD:0002934 ! Hypothalamic hamartomas UMLS:C0342418 OMIM:241800 ! Hypothalamic Hamartomas
GARD:0002943 ! Hypoxanthine guanine phosphoribosyltransferase deficiency UMLS:C0023374 DOID:1919 ! Lesch-Nyhan syndrome
GARD:0002944 ! IBIDS syndrome Orphanet:453 DOID:2960 ! photosensitive trichothiodystrophy
GARD:0002944 ! IBIDS syndrome UMLS:C0432267 DOID:2960 ! photosensitive trichothiodystrophy
GARD:0002945 ! ICF syndrome UMLS:C0398788 OMIM:242860 ! Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1,Orphanet:2268 ! ICF syndrome
GARD:0002946 ! Ichthyosiform erythroderma, corneal involvement, deafness UMLS:C1275089 OMIM:242150 ! Ichthyosiform Erythroderma, Corneal Involvement, and Deafness
GARD:0002948 ! Ichthyosis congenita biliary atresia Orphanet:2270 OMIM:242400 ! Ichthyosis Congenita With Biliary Atresia
GARD:0002948 ! Ichthyosis congenita biliary atresia UMLS:C0400974 OMIM:242400 ! Ichthyosis Congenita With Biliary Atresia
GARD:0002957 ! Ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin UMLS:C1832858 OMIM:601039 ! Ichthyosis-Mental Retardation Syndrome With Large Keratohyalin Granules 1N the Skin
GARD:0002958 ! Ichthyosis mental retardation dwarfism renal impairment Orphanet:2278 ! Ichthyosis - intellectual disability - dwarfism - renal impairment OMIM:242530 ! Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
GARD:0002958 ! Ichthyosis mental retardation dwarfism renal impairment UMLS:C1855787 OMIM:242530 ! Ichthyosis, Mental Retardation, Dwarfism, and Renal Impairment
GARD:0002965 ! Ichthyosis and male hypogonadism Orphanet:431 OMIM:308200 ! Ichthyosis and Male Hypogonadism
GARD:0002965 ! Ichthyosis and male hypogonadism UMLS:C1839989 OMIM:308200 ! Ichthyosis and Male Hypogonadism
GARD:0002969 ! Nystagmus 1, congenital, X- linked UMLS:C1839580 OMIM:310700 ! Nystagmus 1, Congenital, X-Linked
GARD:0002978 ! Iridogoniodysgenesis type1 Orphanet:79099 ! Interstitial granulomatous dermatitis with arthritis DOID:0050786 ! iridogoniodysgenesis syndrome,OMIM:601631 ! Iridogoniodysgenesis, Type 1
GARD:0002978 ! Iridogoniodysgenesis type1 UMLS:C1866560 DOID:0050786 ! iridogoniodysgenesis syndrome,OMIM:601631 ! Iridogoniodysgenesis, Type 1
GARD:0002982 ! Ciliary dyskinesia with excessively long cilia UMLS:C0340036 OMIM:242680 ! Ciliary Dyskinesia With Excessively Long Cilia
GARD:0002984 ! Immune deficiency, familial variable UMLS:C1840266 OMIM:146830 ! Immune Deficiency, Familial Variable
GARD:0002988 ! Achondroplasia and severe combined immunodeficiency UMLS:C1860168 OMIM:200900 ! Short-limb skeletal dysplasia with severe combined immunodeficiency
GARD:0002992 ! Hypomelanosis of Ito UMLS:C0022283 OMIM:300337 ! incontinentia pigmenti achromians
GARD:0002998 ! Infantile myofibromatosis OMIM:228550 ! Myofibromatosis, Infantile, 1 DC:0000567 ! Myofibromatosis, Infantile
GARD:0002998 ! Infantile myofibromatosis SNOMED_CT:254146000 DC:0000567 ! Myofibromatosis, Infantile
GARD:0002998 ! Infantile myofibromatosis UMLS:C0432284 DC:0000567 ! Myofibromatosis, Infantile
GARD:0003005 ! Infundibulopelvic dysgenesis UMLS:C1832949 OMIM:600989 ! Infundibulopelvic Dysgenesis
GARD:0003007 ! Mosaic variegated aneuploidy syndrome Orphanet:1052.0 DC:0000564 ! Mosaic Variegated Aneuploidy Syndrome,OMIM:257300 ! Mosaic Variegated Aneuploidy Syndrome 1
GARD:0003008 ! Insulin-resistant acanthosis nigricans, type A UMLS:C0342278 OMIM:610549 ! Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans,Orphanet:2297 ! Insulin-resistance syndrome type A
GARD:0003010 ! Insulinoma OMIM:606960 ! Insulinoma Tumor Suppressor Gene Locus DOID:3892 ! insulinoma,MESH:D007340 ! Insulinoma
GARD:0003010 ! Insulinoma UMLS:C0021670 DOID:3892 ! insulinoma,MESH:D007340 ! Insulinoma
GARD:0003011 ! Interferon gamma, receptor 1, deficiency OMIM:107470 MESH:C535530 ! Interferon gamma, receptor 1, deficiency
GARD:0003011 ! Interferon gamma, receptor 1, deficiency UMLS:C2930924 MESH:C535530 ! Interferon gamma, receptor 1, deficiency
GARD:0003024 ! Intrinsic factor deficiency Orphanet:332 OMIM:261000 ! Intrinsic Factor Deficiency
GARD:0003024 ! Intrinsic factor deficiency UMLS:C0340957 OMIM:261000 ! Intrinsic Factor Deficiency
GARD:0003026 ! Iridogoniodysgenesis, dominant type OMIM:137600 ! Iridogoniodysgenesis, Type 2 MESH:C535536 ! Iridogoniodysgenesis, dominant type
GARD:0003026 ! Iridogoniodysgenesis, dominant type Orphanet:98634 MESH:C535536 ! Iridogoniodysgenesis, dominant type
GARD:0003026 ! Iridogoniodysgenesis, dominant type UMLS:C1842031 MESH:C535536 ! Iridogoniodysgenesis, dominant type
GARD:0003027 ! Iris dysplasia hypertelorism deafness Orphanet:1831 MESH:C535537 ! Iris dysplasia hypertelorism deafness,OMIM:109120 ! Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
GARD:0003027 ! Iris dysplasia hypertelorism deafness UMLS:C2930925 MESH:C535537 ! Iris dysplasia hypertelorism deafness,OMIM:109120 ! Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities
GARD:0003033 ! Isosporiasis UMLS:C0311386 DOID:2112 ! cystoisosporiasis
GARD:0003040 ! Jaffer Beighton syndrome UMLS:C2931533 MESH:C537561 ! Jaffer Beighton syndrome
GARD:0003044 ! Jankovic Rivera syndrome OMIM:159950 ! Hereditary myoclonus - progressive distal muscular atrophy MESH:C537563 ! Jankovic Rivera syndrome
GARD:0003044 ! Jankovic Rivera syndrome UMLS:C1834569 MESH:C537563 ! Jankovic Rivera syndrome
GARD:0003046 ! Jensen syndrome UMLS:C1839564 OMIM:311150 ! Jensen syndrome
GARD:0003047 ! Spondylometaphyseal dysplasia Kozlowski type Orphanet:1965 OMIM:184252 ! Spondylometaphyseal dysplasia, Kozlowski type
GARD:0003048 ! Jervell Lange-Nielsen syndrome UMLS:C0022387 DOID:2842 ! Jervell-Lange Nielsen syndrome,OMIM:220400 ! Jervell and Lange-Nielsen Syndrome 1
GARD:0003049 ! Jeune syndrome OMIM:263520 ! Short-Rib Thoracic Dysplasia 6 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome OMIM:266920 ! Short-Rib Thoracic Dysplasia 9 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome OMIM:614091 ! Short-Rib Thoracic Dysplasia 7 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome OMIM:615503 ! Short-Rib Thoracic Dysplasia 8 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome OMIM:615630 ! Short-Rib Thoracic Dysplasia 10 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome OMIM:615633 ! Short-Rib Thoracic Dysplasia 11 With or Without Polydactyly DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003049 ! Jeune syndrome UMLS:C0265275 DOID:0050592 ! asphyxiating thoracic dystrophy,OMIM:208500 ! Short-Rib Thoracic Dysplasia 1 With or Without Polydactyly
GARD:0003053 ! Johnston Aarons Schelley syndrome UMLS:C1859710 OMIM:208158 ! Arthrogryposis With Hyperkeratosis,Orphanet:1485 ! Arthrogryposis - hyperkeratosis, lethal form
GARD:0003055 ! Jones Hersh Yusk syndrome UMLS:C2931054 MESH:C535885 ! Jones Hersh Yusk syndrome
GARD:0003057 ! Jorgenson Lenz syndrome UMLS:C2931162 Orphanet:1256 ! Blepharophimosis - radioulnar synostosis
GARD:0003060 ! Juberg-Hayward syndrome UMLS:C0796099 OMIM:216100 ! Juberg-Hayward syndrome
GARD:0003061 ! Judge Misch Wright syndrome UMLS:C2931590 MESH:C537692 ! Judge Misch Wright syndrome
GARD:0003062 ! Jung Wolff Back Stahl syndrome UMLS:C1832362 OMIM:601427 ! Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, and Tracheal Stenosis
GARD:0003065 ! Juvenile polyposis syndrome UMLS:C0345893 DOID:0050787 ! juvenile polyposis syndrome,OMIM:174900 ! Juvenile Polyposis Syndrome
GARD:0003071 ! Kallmann syndrome 1 Orphanet:478 OMIM:308700 ! Hypogonadotropic Hypogonadism 1 With or Without Anosmia
GARD:0003075 ! Kaplan Plauchu Fitch syndrome UMLS:C1860145 MESH:C536892 ! Kaplan Plauchu Fitch syndrome,OMIM:201050 ! Acrocraniofacial dysostosis
GARD:0003080 ! Kasznica Carlson Coppedge syndrome Orphanet:1894 MESH:C537011 ! Kasznica Carlson Coppedge syndrome
GARD:0003080 ! Kasznica Carlson Coppedge syndrome UMLS:C2931393 MESH:C537011 ! Kasznica Carlson Coppedge syndrome
GARD:0003081 ! Katsantoni Papadakou Lagoyanni syndrome UMLS:C2931394 MESH:C537012 ! Katsantoni Papadakou Lagoyanni syndrome
GARD:0003086 ! PAGOD syndrome UMLS:C1859967 OMIM:202660 ! PAGOD syndrome
GARD:0003087 ! Kennerknecht Vogel syndrome OMIM:600908 ! Agonadism, 46,Xy, With Mental Retardation, Short Stature, Retarded Bone Age, and Multiple Extragenital Malformations MESH:C537019 ! Kennerknecht Vogel syndrome
GARD:0003087 ! Kennerknecht Vogel syndrome Orphanet:991 MESH:C537019 ! Kennerknecht Vogel syndrome
GARD:0003089 ! Keratitis, hereditary Orphanet:2334 ! Autosomal dominant keratitis OMIM:148190 ! Keratitis, Hereditary
GARD:0003089 ! Keratitis, hereditary UMLS:C1835698 OMIM:148190 ! Keratitis, Hereditary
GARD:0003090 ! Multiple self healing squamous epithelioma UMLS:C0546476 OMIM:132800 ! Multiple Self-Healing Squamous Epithelioma, Susceptibility to
GARD:0003091 ! Keratoconus posticus circumscriptus UMLS:C1855645 OMIM:244600 ! Keratoconus Posticus Circumscriptus
GARD:0003096 ! Keratoderma palmoplantaris transgrediens OMIM:133200 ! erythrokeratodermia variabilis MESH:C536154 ! Keratoderma palmoplantaris transgrediens
GARD:0003096 ! Keratoderma palmoplantaris transgrediens Orphanet:495 ! Transgrediens et progrediens palmoplantar keratoderma MESH:C536154 ! Keratoderma palmoplantaris transgrediens
GARD:0003098 ! Focal palmoplantar and gingival keratoderma UMLS:C1835650 OMIM:148730 ! Keratosis, Focal Palmoplantar and Gingival,Orphanet:2200 ! Focal palmoplantar and gingival keratoderma
GARD:0003102 ! Tylosis with esophageal cancer Orphanet:2198 ! Palmoplantar keratoderma-esophageal carcinoma syndrome OMIM:148500 ! Tylosis With Esophageal Cancer
GARD:0003108 ! Keratosis, seborrheic UMLS:C0022603 DOID:6498 ! seborrheic keratosis,OMIM:182000 ! Keratosis, Seborrheic
GARD:0003109 ! Kerion celsi OMIM:275240 ! Tinea Imbricata, Susceptibility to Orphanet:499 ! Kerion celsi
GARD:0003112 ! Anaplastic large cell lymphoma OMIM:105590 DOID:0050744 ! anaplastic large cell lymphoma
GARD:0003112 ! Anaplastic large cell lymphoma UMLS:C0206180 DOID:0050744 ! anaplastic large cell lymphoma
GARD:0003113 ! KID syndrome UMLS:C0265336 OMIM:148210 ! Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant,Orphanet:477 ! KID syndrome
GARD:0003115 ! Kleeblattschaedel syndrome UMLS:C0432126 OMIM:148800 ! Kleeblattschaedel
GARD:0003118 ! Kleiner Holmes syndrome UMLS:C1856197 MESH:C536885 ! Kleiner Holmes syndrome,OMIM:234280 ! Hallux varus - preaxial polysyndactyly
GARD:0003122 ! Klippel-Trenaunay syndrome Orphanet:2346 ! Angioosteohypertrophic syndrome OMIM:149000 ! Klippel-Trenaunay syndrome
GARD:0003125 ! Knuckle pads, leuconychia and sensorineural deafness Orphanet:2698 ! Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome MESH:C537210 ! Knuckle pads, leuconychia and sensorineural deafness,OMIM:149200 ! Bart-Pumphrey syndrome
GARD:0003125 ! Knuckle pads, leuconychia and sensorineural deafness UMLS:C0266004 MESH:C537210 ! Knuckle pads, leuconychia and sensorineural deafness,OMIM:149200 ! Bart-Pumphrey syndrome
GARD:0003128 ! Kohlschutter Tonz syndrome Orphanet:1946 ! Amelo-cerebro-hypohidrotic syndrome OMIM:226750 ! Kohlschutter-Tonz Syndrome
GARD:0003128 ! Kohlschutter Tonz syndrome UMLS:C0406740 OMIM:226750 ! Kohlschutter-Tonz Syndrome
GARD:0003129 ! Hereditary hyperekplexia UMLS:C1835614 OMIM:149400 ! Hyperekplexia, Hereditary 1,Orphanet:3197 ! Hereditary hyperekplexia
GARD:0003130 ! Konigsmark Knox Hussels syndrome OMIM:125250 ! Optic Atrophy With or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, and Neuropathy MESH:C537214 ! Konigsmark Knox Hussels syndrome
GARD:0003130 ! Konigsmark Knox Hussels syndrome Orphanet:3212 MESH:C537214 ! Konigsmark Knox Hussels syndrome
GARD:0003130 ! Konigsmark Knox Hussels syndrome UMLS:C2931440 MESH:C537214 ! Konigsmark Knox Hussels syndrome
GARD:0003131 ! Koone Rizzo Elias syndrome UMLS:C2931397 MESH:C537023 ! Koone Rizzo Elias syndrome
GARD:0003134 ! Kotzot-Richter syndrome OMIM:203285 MESH:C537025 ! Kotzot-Richter syndrome
GARD:0003134 ! Kotzot-Richter syndrome UMLS:C2931399 MESH:C537025 ! Kotzot-Richter syndrome
GARD:0003136 ! Kozlowski Brown Hardwick syndrome UMLS:C2931511 MESH:C537506 ! Kozlowski Brown Hardwick syndrome
GARD:0003137 ! Kozlowski Celermajer Tink syndrome Orphanet:1792 DOID:0050813 ! spondyloepiphyseal dysplasia with congenital joint dislocations
GARD:0003137 ! Kozlowski Celermajer Tink syndrome UMLS:C1840471 DOID:0050813 ! spondyloepiphyseal dysplasia with congenital joint dislocations
GARD:0003139 ! Kozlowski Ouvrier syndrome UMLS:C2931512 MESH:C537508 ! Kozlowski Ouvrier syndrome
GARD:0003140 ! Kozlowski Rafinski Klicharska syndrome UMLS:C2931513 MESH:C537509 ! Kozlowski Rafinski Klicharska syndrome
GARD:0003141 ! Kozlowski-Krajewska syndrome UMLS:C2931547 MESH:C537615 ! Kozlowski-Krajewska syndrome
GARD:0003143 ! Krauss Herman Holmes syndrome UMLS:C2931549 Orphanet:3293 ! Telecanthus - hypertelorism - strabismus - pes cavus
GARD:0003144 ! Krieble Bixler syndrome UMLS:C2931550 MESH:C537619 ! Krieble Bixler syndrome
GARD:0003149 ! Kurczynski Casperson syndrome Orphanet:1219 OMIM:109050 ! Aurocephalosyndactyly
GARD:0003150 ! Kuskokwim disease UMLS:C1859709 Orphanet:1149 ! Arthrogryposis-like syndrome