Schneckenbecken dysplasia

Preferred Label : Schneckenbecken dysplasia;

Symbol : SHNKND;

CISMeF acronym : SHNKND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chondrodysplasia, lethal neonatal, with snail-like pelvis;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the solute carrier family 35, member D1 gene (SLC25D1, 610804.0001);

Prefixed ID : #269250;

Details

Origin ID

269250;

UMLS CUI

C0432194;

Automatic exact mappings (from CISMeF team)
- Snail-like ilia [HPO term]
Currated CISMeF NLP mapping
- Schneckenbecken dysplasia [ICD-11 More detail]
- Schneckenbecken dysplasia [MeSH concept]
- Schneckenbecken dysplasia [ORDO Disease]
- Schneckenbecken dysplasia (disorder) [SNOMED CT concept]
- schneckenbecken dysplasia [DO Concept]
- schneckenbecken dysplasia [MeSH Supplementary Concept]
DO Cross reference
- schneckenbecken dysplasia [DO Concept]
Genes related to phenotype
- Solute carrier family 35 (udp-glucuronic acid/udp-n-acetylgalactosamine dual transporter), member d1 [OMIM gene]
HPO term(s)
- Advanced ossification of carpal bones [HPO term]
- Advanced tarsal ossification [HPO term]
- Anterior rib cupping [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachydactyly [HPO term]
- Cleft palate [HPO term]
- Disproportionate short-limb short stature [HPO term]
- Dumbbell-shaped long bone [HPO term]
- Dumbbell-shaped short long bones [HPO term]
- Flat acetabular roof [HPO term]
- Hypoplastic scapulae [HPO term]
- Lateral clavicle hook [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Metaphyseal irregularity [HPO term]
- Micromelic dwarfism [HPO term]
- Midface retrusion [HPO term]
- Narrow chest [HPO term]
- Ovoid vertebral bodies [HPO term]
- Polyhydramnios [HPO term]
- Short neck [HPO term]
- Short ribs [HPO term]
- Snail-like ilia [HPO term]
- Stillbirth [HPO term]
- Stillbirth [HPO term]
ORDO concept(s)
- Schneckenbecken dysplasia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Schneckenbecken dysplasia [ORDO Disease]
- Schneckenbecken dysplasia [MeSH concept]
- Schneckenbecken dysplasia [ICD-11 More detail]
- Schneckenbecken dysplasia (disorder) [SNOMED CT concept]
- schneckenbecken dysplasia [MeSH Supplementary Concept]
- schneckenbecken dysplasia [DO Concept]

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