DOID:0060870
|
-
isolated growth hormone deficiency
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Aliases:
-
IGHD
-
congenital IGHD
-
congenital isolated GH deficiency
-
congenital isolated growth hormone deficiency
-
familial isolated growth hormone deficiency
-
non-acquired isolated growth hormone deficiency
|
|
|
Homo sapiens (human)
|
DOID:0111415
|
-
trichohepatoenteric syndrome 1
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0111414
|
-
trichohepatoenteric syndrome
-
Aliases:
-
SD/THE
-
Syndromic diarrhea/Tricho-hepato-enteric syndrome
-
THES
-
Tricho-hepato-enteric syndrome
-
phenotypic diarrhea
-
syndromic diarrhea
|
|
|
Homo sapiens (human)
|
DOID:12639
|
|
|
|
Homo sapiens (human)
|
DOID:12129
|
|
|
|
Homo sapiens (human)
|
DOID:585
|
-
nephrolithiasis
-
Aliases:
-
Stone - kidney/ureter
-
kidney stones
|
|
|
Homo sapiens (human)
|
DOID:580
|
-
uric acid nephrolithiasis
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0080326
|
-
familial hypertrophic cardiomyopathy
|
|
|
Homo sapiens (human)
|
DOID:2018
|
|
|
|
Homo sapiens (human)
|
DOID:0050782
|
-
Zollinger-Ellison syndrome
|
|
|
Homo sapiens (human)
|
DOID:420
|
|
|
|
Homo sapiens (human)
|
DOID:1062
|
-
Fanconi syndrome
-
Aliases:
-
Congenital Fanconi syndrome
-
De Toni-Fanconi syndrome
-
Fanconi-de Toni syndrome
-
Fanconi-de-Toni syndrome
-
Infantile nephropathic cystinosis
-
Lignac-Fanconi syndrome
-
adult Fanconi Anemia
-
adult Fanconi syndrome
-
deToni Fanconi syndrome
|
|
|
Homo sapiens (human)
|
DOID:1064
|
|
|
|
Homo sapiens (human)
|
DOID:0090122
|
-
aromatase excess syndrome
-
Aliases:
-
AEXS
-
familial hyperestrogenism
-
hereditary prepubertal gynecomastia
-
increased aromatase activity
|
|
|
Homo sapiens (human)
|
DOID:3138
|
-
acanthosis nigricans
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0060689
|
-
atrichia with papular lesions
-
Aliases:
|
|
|
Homo sapiens (human)
|
DOID:0050440
|
-
familial partial lipodystrophy
-
Aliases:
-
Dunnigan Syndrome
-
Koberling-Dunnigan Syndrome
|
|
|
Homo sapiens (human)
|
DOID:11717
|
-
neonatal diabetes
-
Aliases:
-
diabetes mellitus syndrome in newborn infant
-
neonatal diabetes mellitus
|
|
|
Homo sapiens (human)
|
DOID:0060334
|
-
transient neonatal diabetes mellitus
|
|
|
Homo sapiens (human)
|
DOID:0050585
|
-
congenital generalized lipodystrophy
|
|
|
Homo sapiens (human)
|
DOID:37
|
-
skin disease
-
Aliases:
-
Genodermatosis
-
skin and subcutaneous tissue disease
|
|
|
Homo sapiens (human)
|
DOID:12858
|
-
Huntington's disease
-
Aliases:
-
HD
-
Huntington disease
-
Huntington's chorea
|
|
|
Homo sapiens (human)
|
DOID:0090104
|
-
Huntington's disease-like 2
-
Aliases:
-
HDL2
-
Huntington disease-like 2
|
|
|
Homo sapiens (human)
|
DOID:0090103
|
-
Huntington's disease-like 1
-
Aliases:
-
HDL1
-
HLN1
-
Huntington disease-like 1
-
Huntington-like neurodegenerative disorder 1
-
autosomal dominant Huntington-like neurodegenerative disorder
-
early-onset prion disease with prominent psychiatric features
|
|
|
Homo sapiens (human)
|
DOID:0060843
|
-
hereditary neuropathy with liability to pressure palsies
-
Aliases:
-
HNPP
-
current pressure-sensitive neuropathy
-
familial recurrent polyneuropathy
-
heterozygous microdeletion 17p11.2p12
-
potato-grubbing palsy
-
tomaculous neuropathy
-
tulip-bulb digger's palsy
|
|
|
Homo sapiens (human)
|