Acromesomelic dysplasia 3

Preferred Label : Acromesomelic dysplasia 3;

Symbol : AMD3;

CISMeF acronym : AMDD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia, acromesomelic, with or without genital anomalies; AMDD; Acromesomelic dysplasia, demirhan type;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutations in the bone morphogenetic protein receptor, type 1B gene (BMPR1B, 603248.0003);

Prefixed ID : #609441;

Details

Origin ID

609441;

UMLS CUI

C4225404;

Currated CISMeF NLP mapping
- Chondrodysplasia, acromesomelic, with genital anomalies [MeSH concept]
- chondrodysplasia, acromesomelic, with genital anomalies [MeSH Supplementary Concept]
Genes related to phenotype
- Bone morphogenetic protein receptor, type ib [OMIM gene]
HPO term(s)
- Aplasia of the proximal phalanges of the hand [HPO term]
- Aplasia/Hypoplasia involving the metacarpal bones [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Broad foot [HPO term]
- Carpal synostosis [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Fibular aplasia [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplasia of the uterus [HPO term]
- Primary amenorrhea [HPO term]
- Radial deviation of finger [HPO term]
- Severe brachydactyly [HPO term]
- Short femoral neck [HPO term]
- Short femoral neck [HPO term]
- Short finger [HPO term]
- Short limb dwarfism, disproportionate [HPO term]
- Short phalanx of finger [HPO term]
- Short toe [HPO term]
- Talipes equinovarus [HPO term]
- Tarsal synostosis [HPO term]
- Widened proximal tibial metaphyses [HPO term]
ORDO concept(s)
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
See also inter- (CISMeF)
- Acromesomelic dysplasia, Grebe type [ORDO Disease]
- Fibular aplasia-complex brachydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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