| OMIMPS:219080 |
ACTH-independent macronodular adrenal hyperplasia |
| OMIMPS:300908 |
Anemia, congenital, nonspherocytic hemolytic |
| OMIMPS:617099 |
Autoinflammation, panniculitis, and dermatosis syndrome |
| OMIMPS:236270 |
Homocystinuria-megaloblastic anemia |
| OMIMPS:169500 |
Leukodystrophy, demyelinating, adult-onset |
| OMIMPS:251000 |
Methylmalonic aciduria |
| OMIMPS:616255 |
Short stature with nonspecific skeletal abnormalities |
| OMIM:620990 |
acth-independent macronodular adrenal hyperplasia 3 |
| OMIM:620969 |
anemia, congenital dyserythropoietic, type ivb |
| OMIM:301127 |
arthrogryposis multiplex congenita 7, X-linked |
| OMIM:621004 |
autoimmune disease with susceptibility to mycobacterium tuberculosis |
| OMIM:621030 |
autoinflammation, panniculitis, and dermatosis syndrome, autosomal dominant |
| OMIM:621018 |
basal ganglia calcification, idiopathic, 10, autosomal recessive |
| OMIM:620975 |
blood group, anton system |
| OMIM:620943 |
brain malformation renal syndrome |
| OMIM:620984 |
bronchiectasis and nasal polyposis |
| OMIM:621032 |
cerebral cavernous malformations 5 |
| OMIM:620962 |
cholestasis, progressive familial intrahepatic, 13 |
| OMIM:301133 |
congenital disorder of glycosylation, type 1dd |
| OMIM:620964 |
congenital myopathy 25 |
| OMIM:620950 |
encephalopathy, acute transient |
| OMIM:621064 |
epilepsy, idiopathic generalized, susceptibility to, 19 |
| OMIM:620999 |
fibromatosis, gingival, 6 |
| OMIM:620958 |
foveal hypoplasia 3 |
| OMIM:621079 |
heterotaxy, visceral, 13, autosomal |
| OMIM:621080 |
heterotaxy, visceral, 14, autosomal |
| OMIM:620952 |
homocystinuria-megaloblastic anemia, cbld type |
| OMIM:620977 |
immunodeficiency 127 |
| OMIM:620983 |
immunodeficiency 128 |
| OMIM:621021 |
intellectual developmental disorder with polymicrogyria and seizures |
| OMIM:301134 |
intellectual developmental disorder, X-linked 114 |
| OMIM:620988 |
intellectual developmental disorder, autosomal dominant 75 |
| OMIM:620985 |
karayol-borroto-haghshenas neurodevelopmental syndrome |
| OMIM:620937 |
kariminejad neurodevelopmental syndrome |
| OMIM:621061 |
leukodystrophy, demyelinating, adult-onset, autosomal dominant, atypical |
| OMIM:620978 |
leukodystrophy, hypomyelinating, 28 |
| OMIM:620940 |
methylmalonic aciduria and homocystinuria, cbll type |
| OMIM:620953 |
methylmalonic aciduria, cbld type |
| OMIM:620968 |
microphthalmia/coloboma 13 |
| OMIM:621071 |
mitochondrial DNA depletion syndrome 21 |
| OMIM:621010 |
morimoto-ryu-malicdan neuromuscular syndrome |
| OMIM:621063 |
muggenthaler-chowdhury-chioza syndrome |
| OMIM:620960 |
multiple mitochondrial dysfunctions syndrome 10 |
| OMIM:620939 |
myelofibrosis, congenital, with anemia, neutropenia, developmental delay, and ocular abnormalities |
| OMIM:620971 |
myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2 |
| OMIM:621078 |
myopathy, myofibrillar, 13, with rimmed vacuoles |
| OMIM:620987 |
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities |
| OMIM:621012 |
neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities |
| OMIM:621068 |
neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia |
| OMIM:621060 |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
| OMIM:621067 |
neurodevelopmental disorder with poor growth, absent speech, progressive ataxia, and dysmorphic facies |
| OMIM:621034 |
neurodevelopmental disorder with speech or visual impairment and brain hypomyelination |
| OMIM:621016 |
neurodevelopmental disorder with variable familial hypercholanemia |
| OMIM:621091 |
ocular pterygium-digital keloid dysplasia syndrome |
| OMIM:621093 |
oocyte/zygote/embryo maturation arrest 22 |
| OMIM:301132 |
orofaciodigital syndrome 21 |
| OMIM:621049 |
pan-chung-bellen syndrome |
| OMIM:620991 |
pancreatic agenesis 3 |
| OMIM:621002 |
premature ovarian failure 25 |
| OMIM:621065 |
premature ovarian failure 26 |
| OMIM:620996 |
retinitis pigmentosa 98 |
| OMIM:620938 |
spastic paraplegia 93, autosomal recessive |
| OMIM:500018 |
spastic paraplegia, mitochondrial |
| OMIM:621001 |
spermatogenic failure 96 |
| OMIM:621057 |
spermatogenic failure 97 |
| OMIM:301137 |
spermatogenic failure, x-linked, 9 |
| OMIM:620947 |
spinocerebellar ataxia 51 |
| OMIM:621056 |
telangiectasia, impaired intellectual development, microcephaly, metaphyseal dysplasia, eye abnormalities, and short stature |