Hypospadias 2, X-linked

Preferred Label : Hypospadias 2, X-linked;

Symbol : HYSP2;

CISMeF acronym : HYSP2;

Type : Phenotype, molecular basis known;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the mastermind-like domain containing 1 gene (MAMLD1, 300120.0001);

Prefixed ID : #300758;

Détails

Origin ID

300758;

UMLS CUI

C2677879;

Automatic exact mappings (from CISMeF team)
- Familial hypospadias [ORDO Disease]
- MAMLD1 wt Allele [NCIt concept]
Broader ORDO disease(s)
- Familial hypospadias [ORDO Disease]
Currated CISMeF NLP mapping
- hypospadias 2, X-Linked [MeSH concept]
- hypospadias 2, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- hypospadias [DO Concept]
Genes related to phenotype
- Mastermind-like domain-containing protein 1 [OMIM gene]
HPO term(s)
- Penoscrotal hypospadias [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Familial hypospadias [ORDO Disease]
- Non-syndromic posterior hypospadias [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- hypospadias 2, X-Linked [MeSH Supplementary Concept]
- hypospadias 2, X-Linked [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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