Achondroplasia, severe, with developmental delay and acanthosis nigricans

Preferred Label : Achondroplasia, severe, with developmental delay and acanthosis nigricans;

Symbol : SADDAN;

CISMeF acronym : SADDAN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Saddan dysplasia;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0015);

Prefixed ID : #616482;

Details

Origin ID

616482;

UMLS CUI

C2674173;

Automatic exact mappings (from CISMeF team)
- achondroplasia [MeSH Descriptor]
CISMeF manual mappings
- achondroplasia, severe, with developmental delay and acanthosis nigricans [MeSH concept]
Currated CISMeF NLP mapping
- SADDAN [DO Concept]
- Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) [SNOMED CT concept]
- Severe achondroplasia with developmental delay and acanthosis nigricans [MedDRA LLT]
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [ORDO Disease]
DO Cross reference
- SADDAN [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Acanthosis nigricans [HPO term]
- Autosomal dominant inheritance [HPO term]
- Central apnea [HPO term]
- Congestive heart failure [HPO term]
- Depressed nasal bridge [HPO term]
- Disproportionate short stature [HPO term]
- Exotropia [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High myopia [HPO term]
- Hydrocephalus [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Intellectual disability [HPO term]
- Kyphosis [HPO term]
- Lumbar hyperlordosis [HPO term]
- Megalencephaly [HPO term]
- Mesomelia [HPO term]
- Midface retrusion [HPO term]
- Otitis media [HPO term]
- Platyspondyly [HPO term]
- Pulmonary arterial hypertension [HPO term]
- Redundant skin [HPO term]
- Rhizomelia [HPO term]
- Seizure [HPO term]
- Severe short stature [HPO term]
- Sleep apnea [HPO term]
- Wide anterior fontanel [HPO term]
ORDO concept(s)
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [ORDO Disease]
See also inter- (CISMeF)
- Severe achondroplasia, developmental delay, acanthosis nigricans syndrome (disorder) [SNOMED CT concept]
Semantic type(s)
- Congenital Abnormality [UMLS semantic type]
UMLS correspondences (same concept)
- SADDAN [DO Concept]
- Severe achondrolasia with developmental delay and acanthosis nigricans (disorder) [SNOMED CT concept]
- Severe achondroplasia with developmental delay and acanthosis nigricans [MedDRA LLT]
- Severe achondroplasia-developmental delay-acanthosis nigricans syndrome [ORDO Disease]
- achondroplasia, severe, with developmental delay and acanthosis nigricans [MeSH concept]

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