Intellectual developmental disorder, autosomal dominant 47

Preferred Label : Intellectual developmental disorder, autosomal dominant 47;

Symbol : MRD47;

CISMeF acronym : MRD47;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, autosomal dominant 47;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the stromal antigen 1 gene (STAG1, 604358.0001);

Prefixed ID : #617635;

Details

Origin ID

617635;

UMLS CUI

C4539951;

Currated CISMeF NLP mapping
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome [ORDO Disease]
- autosomal dominant mental retardation 47 [DO Concept]
DO Cross reference
- autosomal dominant mental retardation 47 [DO Concept]
Genes related to phenotype
- Stromal antigen 1 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Cerebral atrophy [HPO term]
- Cryptorchidism [HPO term]
- Deeply set eye [HPO term]
- Delayed speech and language development [HPO term]
- Feeding difficulties [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Thin eyebrow [HPO term]
- Wide mouth [HPO term]
- Widely-spaced incisors [HPO term]
ORDO concept(s)
- STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]

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