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Hermansky-Pudlak syndrome type 7
1 OMIM reference -
1 associated gene
17 connected diseases
No signs/symptoms info
Disease Type of connection
Hermansky-Pudlak syndrome type 8
Autosomal recessive limb-girdle muscular dystrophy type 2H
Bardet-Biedl syndrome
Left ventricular noncompaction
Amyotrophic lateral sclerosis
Autosomal agammaglobulinemia
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive ataxia, Beauce type
Autosomal recessive myogenic arthrogryposis multiplex congenita
Distal hereditary motor neuropathy type 7
Perry syndrome
Pilocytic astrocytoma
Prader-Willi syndrome due to imprinting mutation
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
SHORT syndrome
Synonym(s):
- HPS7
Classification (Orphanet):
- Inborn errors of metabolism
- Rare eye disease
- Rare genetic disease
- Rare hematologic disease
- Rare skin disease
Classification (ICD10):
- Endocrine, nutritional and metabolic diseases -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DTNBP1 Q96EV8607145
No signs/symptoms info available.