DOID:1168
|
-
familial hyperlipidemia
-
Aliases:
-
familial hyperlipoproteinemia
-
hyperlipemia
|
|
|
Homo sapiens (human)
|
|
DOID:0050782
|
-
Zollinger-Ellison syndrome
|
|
|
Homo sapiens (human)
|
|
DOID:2018
|
|
|
|
Homo sapiens (human)
|
|
DOID:4195
|
|
|
|
Homo sapiens (human)
|
|
DOID:10780
|
-
primary polycythemia
-
Aliases:
-
Familiar Polycythemia
-
familial erythrocytosis
|
|
|
Homo sapiens (human)
|
|
DOID:13810
|
-
familial hypercholesterolemia
-
Aliases:
-
Fredrickson type IIa hyperlipoproteinemia
-
Fredrickson type IIa lipidaemia
-
familial hyperbetalipoproteinaemia
-
familial hypercholesteremia
-
hyperbetalipoproteinemia
-
type II hyperlipidemia
|
|
|
Homo sapiens (human)
|
|
DOID:12733
|
|
|
|
Homo sapiens (human)
|
|
DOID:2485
|
-
phosphorus metabolism disease
-
Aliases:
-
Phosphorus disorder
-
disorder of phosphorus metabolism
-
phosphorus metabolism disorder
|
|
|
Homo sapiens (human)
|
|
DOID:12678
|
|
|
|
Homo sapiens (human)
|
|
DOID:9931
|
-
Waterhouse-Friderichsen syndrome
-
Aliases:
-
Meningococcal hemorrhagic adrenalitis
|
|
|
Homo sapiens (human)
|
|
DOID:11212
|
|
|
|
Homo sapiens (human)
|
|
DOID:11211
|
-
buphthalmos
-
Aliases:
-
primary congenital glaucoma 3A
-
simple buphthalmos
|
|
|
Homo sapiens (human)
|
|
DOID:11111
|
|
|
|
Homo sapiens (human)
|
|
DOID:1572
|
-
normal pressure hydrocephalus
-
Aliases:
-
Low pressure hydrocephalus
|
|
|
Homo sapiens (human)
|
|
DOID:14524
|
-
senile degeneration of brain
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0060276
|
-
pontocerebellar hypoplasia type 7
|
|
|
Homo sapiens (human)
|
|
DOID:0060278
|
-
pontocerebellar hypoplasia type 9
|
|
|
Homo sapiens (human)
|
|
DOID:4626
|
|
|
|
Homo sapiens (human)
|
|
DOID:0060277
|
-
pontocerebellar hypoplasia type 8
|
|
|
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:0060807
|
-
syndromic X-linked intellectual disability Najm type
-
Aliases:
-
MICPCH
-
X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome
-
mental retardation and microcephaly with pontine and cerebellar hypoplasia
|
|
|
Homo sapiens (human)
|
|
DOID:0110096
|
-
short-rib thoracic dysplasia 14 with polydactyly
-
Aliases:
|
|
|
Homo sapiens (human)
|
|
DOID:0060270
|
-
pontocerebellar hypoplasia type 2D
|
|
|
Homo sapiens (human)
|
|
DOID:0050777
|
-
Joubert syndrome
-
Aliases:
|
|
|
Homo sapiens (human)
|
|