Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia

Preferred Label : Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia;

Type : Other, mainly phenotypes with suspected mendelian basis;

Inheritance : Autosomal dominant;

Prefixed ID : 609945;

Détails

Origin ID

609945;

UMLS CUI

C1864965;

Currated CISMeF NLP mapping
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH concept]
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH Supplementary Concept]
HPO term(s)
- Absent tibia [HPO term]
- Antecubital pterygium [HPO term]
- Aplasia cutis congenita of scalp [HPO term]
- Aplasia/Hypoplasia of the hallux [HPO term]
- Aplasia/Hypoplasia of the nails [HPO term]
- Aplasia/hypoplasia of the femur [HPO term]
- Aplasia/hypoplasia of the humerus [HPO term]
- Atrial septal defect [HPO term]
- Autosomal dominant inheritance [HPO term]
- Bifid scrotum [HPO term]
- Blepharophimosis [HPO term]
- Brachydactyly [HPO term]
- Broad phalanges of the thumb [HPO term]
- Broad thumb [HPO term]
- Clitoral hypoplasia [HPO term]
- Craniosynostosis [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Delayed skeletal maturation [HPO term]
- Dislocated radial head [HPO term]
- Epicanthus [HPO term]
- Fibular hypoplasia [HPO term]
- Flared iliac wing [HPO term]
- Global developmental delay [HPO term]
- Hand monodactyly [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hip dislocation [HPO term]
- Horseshoe kidney [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the radius [HPO term]
- Hypoplasia of the toes [HPO term]
- Hypoplasia of the ulna [HPO term]
- Hypoplastic iliac wing [HPO term]
- Hypoplastic ischia [HPO term]
- Hypoplastic pubic rami [HPO term]
- Hypospadias [HPO term]
- Inguinal hernia [HPO term]
- Knee contractures [HPO term]
- Knee flexion contracture [HPO term]
- Mesomelic leg shortening [HPO term]
- Metatarsus adductus [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micropenis [HPO term]
- Microphthalmia [HPO term]
- Overfolded helix [HPO term]
- Parietal foramina [HPO term]
- Patellar hypoplasia [HPO term]
- Pectus excavatum [HPO term]
- Popliteal pterygium [HPO term]
- Postaxial hand polydactyly [HPO term]
- Preauricular skin tag [HPO term]
- Preaxial foot polydactyly [HPO term]
- Proximal placement of thumb [HPO term]
- Ptosis [HPO term]
- Shallow acetabular fossae [HPO term]
- Short clavicles [HPO term]
- Short metacarpal [HPO term]
- Short metatarsal [HPO term]
- Short neck [HPO term]
- Short nose [HPO term]
- Short phalanx of finger [HPO term]
- Short toe [HPO term]
- Skin dimple [HPO term]
- Split foot [HPO term]
- Split hand [HPO term]
- Talipes equinovarus [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Torticollis [HPO term]
- Total anomalous pulmonary venous return [HPO term]
- U-Shaped upper lip vermilion [HPO term]
- Undulate ribs [HPO term]
- Wide nasal bridge [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH Supplementary Concept]
- Brachyphalangy, polydactyly, and tibial aplasia-hypoplasia [MeSH concept]

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