Abnormal hair, joint laxity, and developmental delay

Preferred Label : Abnormal hair, joint laxity, and developmental delay;

Symbol : HJDD;

CISMeF acronym : HJDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Pili torti and developmental delay;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the hephaestin-like protein-1 gene (HEPHL1, 618455.0001);

Prefixed ID : #261990;

Details

Origin ID

261990;

UMLS CUI

C1849811;

Currated CISMeF NLP mapping
- Pili torti developmental delay neurological abnormalities [MeSH concept]
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]
- pili torti developmental delay neurological abnormalities [MeSH Supplementary Concept]
Genes related to phenotype
- Hephaestin-like protein 1 [OMIM gene]
HPO term(s)
- 2-3 toe syndactyly [HPO term]
- Aggressive behavior [HPO term]
- Alopecia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Clinodactyly of the 4th toe [HPO term]
- Clinodactyly of the 5th toe [HPO term]
- Developmental regression [HPO term]
- Dysarthria [HPO term]
- Elfin facies [HPO term]
- Fatigue [HPO term]
- Fragile nails [HPO term]
- Global developmental delay [HPO term]
- Impulsivity [HPO term]
- Increased carrying angle [HPO term]
- Joint hypermobility [HPO term]
- Keratosis pilaris [HPO term]
- Lower limb pain [HPO term]
- Microdontia [HPO term]
- Mitral regurgitation [HPO term]
- Pili torti [HPO term]
- Plagiocephaly [HPO term]
- Poor speech [HPO term]
- Recurrent fever [HPO term]
- Recurrent otitis media [HPO term]
- Short fifth metatarsal [HPO term]
- Short fourth metatarsal [HPO term]
- Sinus bradycardia [HPO term]
- Small nail [HPO term]
- Snoring [HPO term]
- Sparse lateral eyebrow [HPO term]
- Trichorrhexis nodosa [HPO term]
- Tricuspid regurgitation [HPO term]
ORDO concept(s)
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pili torti developmental delay neurological abnormalities [MeSH concept]
- Pili torti-developmental delay-neurological abnormalities syndrome [ORDO Disease]
- pili torti developmental delay neurological abnormalities [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

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