OMIMPS:219080 |
ACTH-independent macronodular adrenal hyperplasia |
OMIMPS:236270 |
Homocystinuria-megaloblastic anemia |
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:620975 |
blood group, anton system |
OMIM:620943 |
brain malformation renal syndrome |
OMIM:620984 |
bronchiectasis and nasal polyposis |
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:620999 |
fibromatosis, gingival, 6 |
OMIM:620958 |
foveal hypoplasia 3 |
OMIM:620952 |
homocystinuria-megaloblastic anemia, cbld type |
OMIM:620977 |
immunodeficiency 127 |
OMIM:620983 |
immunodeficiency 128 |
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-reversade neurodevelopmental syndrome |
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:621010 |
morimoto-ryu-malicdan neuromuscular 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:620987 |
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities |
OMIM:301132 |
orofaciodigital syndrome 21 |
OMIM:620991 |
pancreatic agenesis 3 |
OMIM:621002 |
premature ovarian failure 25 |
OMIM:620996 |
retinitis pigmentosa 98 |
OMIM:620938 |
spastic paraplegia 93, autosomal recessive |
OMIM:621001 |
spermatogenic failure 96 |
OMIM:620947 |
spinocerebellar ataxia 51 |