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Pulmonary capillary hemangiomatosis
1 OMIM reference -
1 associated gene
13 connected diseases
No signs/symptoms info
Disease Type of connection
Pulmonary venoocclusive disease
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Melanoma of soft part
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Myhre syndrome
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare genetic disease
- Rare respiratory disease
Classification (ICD10):
- Neoplasms -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
1 MeSH reference: C535861
Gene symbol UniProt reference OMIM reference
EIF2AK4 Q9P2K8609280
No signs/symptoms info available.