DOID:0090116
|
-
spondylocarpotarsal synostosis syndrome
-
Aliases:
-
SCT
-
congenital scoliosis with unilateral unsegmented bar
-
congenital synspondylism
-
spondylocarpotarsal syndrome
-
spondylocarpotarsal synostosis
-
vertebral fusion with carpal coalition
|
|
|
Homo sapiens (human)
|
DOID:0090117
|
-
thiamine-responsive megaloblastic anemia syndrome
-
Aliases:
-
Rogers syndrome
-
THMD1
-
TRMA
-
thiamine metabolism dysfunction syndrome 1
-
thiamine-responsive anaemia syndrome
-
thiamine-responsive anemia syndrome
-
thiamine-responsive megaloblastic anaemia syndrome
-
thiamine-responsive megaloblastic anaemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
-
thiamine-responsive myelodysplasia
|
|
|
Homo sapiens (human)
|
DOID:0090119
|
-
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
-
Aliases:
-
AEC syndrome
-
Hay-Wells syndrome
-
ankyloblepharon-ectodermal defects-cleft lip and palate syndrome
|
|
|
Homo sapiens (human)
|
DOID:0090122
|
-
aromatase excess syndrome
-
Aliases:
-
AEXS
-
familial hyperestrogenism
-
hereditary prepubertal gynecomastia
-
increased aromatase activity
|
|
|
Homo sapiens (human)
|
DOID:0090126
|
-
branched-chain keto acid dehydrogenase kinase deficiency
-
Aliases:
-
BCKDK deficiency
-
BCKDKD
-
autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
|
|
|
Homo sapiens (human)
|
DOID:0090129
|
-
carnitine palmitoyltransferase I deficiency
-
Aliases:
-
CPT I deficiency
-
CPT1A deficiency
-
L-CPT1 deficiency
-
carnitine palmitoyl transferase 1A deficiency
-
carnitine palmitoyl transferase IA deficiency
-
hepatic CPT deficiency type I
-
hepatic carnitine palmitoyl transferase 1 deficiency
-
hepatic carnitine palmitoyl transferase I deficiency
|
|
|
Homo sapiens (human)
|
DOID:0090130
|
-
cortical dysplasia-focal epilepsy syndrome
-
Aliases:
-
CDFE syndrome
-
CDFES
-
PTHSL1
-
Pitt-Hopkins-like syndrome-1
|
|
|
Homo sapiens (human)
|
DOID:0090132
|
-
complex cortical dysplasia with other brain malformations 7
-
Aliases:
-
CDCBM7
-
polymicrogyria due to TUBB2B mutation
|
|
|
Homo sapiens (human)
|
DOID:0090137
|
-
complex cortical dysplasia with other brain malformations 1
-
Aliases:
-
CDCBM1
-
cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
|
|
|
Homo sapiens (human)
|
DOID:0090139
|
-
cortisone reductase deficiency
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0090140
|
-
cortisone reductase deficiency 2
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0090141
|
-
cortisone reductase deficiency 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0090142
|
-
cystathioninuria
-
Aliases:
-
cystathionase deficiency
-
cystathione gamma-lyase deficiency syndrome
-
gamma-cystathionase deficiency
|
|
|
Homo sapiens (human)
|
DOID:0110004
|
-
3-methylglutaconic aciduria type 3
-
Aliases:
-
3-methylglutaconic aciduria type III
-
Costeff optic atrophy syndrome
-
Costeff syndrome
-
Iraqi-Jewish optic atrophy plus
-
MGA3
-
autosomal recessive optic atrophy plus syndrome
-
autosomal recessive optic atrophy type 3
-
infantile optic atrophy with chorea and spastic paraplegia
|
|
|
Homo sapiens (human)
|
DOID:0110006
|
-
3-methylglutaconic aciduria type 4
-
Aliases:
-
3-methylglutaconic aciduria type IV
-
MGA type IV
-
MGA4
-
MGCA4
|
|
|
Homo sapiens (human)
|
DOID:0110008
|
-
achromatopsia 3
-
Aliases:
-
ACHM1
-
ACHM3
-
Pingelapese blindness
-
RMCH1
-
rod monochromacy 1
-
rod monochromatism 1
|
|
|
Homo sapiens (human)
|
DOID:0110011
|
-
advanced sleep phase syndrome 1
-
Aliases:
-
FASPS1
-
familial advanced sleep phase syndrome 1
|
|
|
Homo sapiens (human)
|
DOID:0110016
|
-
Leber congenital amaurosis 2
-
Aliases:
-
LCA2
-
amaurosis congenita of Leber II
|
|
|
Homo sapiens (human)
|
DOID:0110029
|
-
alpha thalassemia-intellectual disability syndrome type 1
-
Aliases:
-
ATR syndrome linked to chromosome 16
-
ATR syndrome, deletion type
-
ATR-16 syndrome
-
alpha thalassemia-intellectual disability syndrome, deletion type
-
alpha thalassemia-retardation syndrome
-
alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
-
alpha-thalassemia/mental retardation syndrome, deletion-type
-
alpha-thalassemia/mental retardation syndrome, type 1
|
|
|
Homo sapiens (human)
|
DOID:0110030
|
-
alpha thalassemia-X-linked intellectual disability syndrome
-
Aliases:
-
ATR, nondeletion type
-
ATR-X syndrome
-
alpha-thalassemia/mental retardation syndrome nondeletion type
|
|
|
Homo sapiens (human)
|
DOID:0110031
|
-
hemoglobin H disease
-
Aliases:
-
HBH
-
alpha thalassemia, haemoglobin H type
-
alpha thalassemia, hemoglobin H type
-
alpha-thalassemia intermedia
-
haemoglobin H disease
-
haemoglobin H disease, deletional
-
hemoglobin H disease, deletional
|
|
|
Homo sapiens (human)
|
DOID:0110035
|
-
Alzheimer's disease 2
-
Aliases:
-
AD2
-
Alzheimer disease 2, late onset
-
Alzheimer disease associated with APOE4
-
Alzheimer disease-2
|
|
|
Homo sapiens (human)
|
DOID:0110037
|
-
Alzheimer's disease 5
-
Aliases:
-
AD5
-
Alzheimer disease 5
-
Alzheimer disease, familial 5
-
Alzheimer's disease 5, late onset
|
|
|
Homo sapiens (human)
|
DOID:0110038
|
-
Alzheimer's disease 6
-
Aliases:
-
AD6
-
Alzheimer disease 6
-
Alzheimer disease 6, late onset
|
|
|
Homo sapiens (human)
|
DOID:0110039
|
-
Alzheimer's disease 7
-
Aliases:
-
AD7
-
Alzheimer disease 7
-
Alzheimer disease, familial 7
|
|
|
Homo sapiens (human)
|