spondyloepiphyseal dysplasia, nishimura type
MONDO:0032835Mondo
Findings
No curated finding names spondyloepiphyseal dysplasia, nishimura type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
30 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- BrachydactylyHPOHP:0001156
- 3 of 3 reported patients
- Broad thumbHPOHP:0011304
- 2 of 2 reported patients
- Cervical spondylosisHPOHP:0008480
- 2 of 2 reported patients
- Cone-shaped epiphyses of the phalanges of the handHPOHP:0010230
- 3 of 3 reported patients
- Cone-shaped epiphysis of the proximal phalanx of the 2nd fingerHPOHP:0009526
- 2 of 2 reported patients
- Delayed epiphyseal ossificationHPOHP:0002663
- 3 of 3 reported patients
- Delayed proximal femoral epiphyseal ossificationHPOHP:0008828
- 1 of 1 reported patient
- Disproportionate short-limb short statureHPOHP:0008873
- 3 of 3 reported patients
- Hypoplastic iliaHPOHP:0000946
- 1 of 1 reported patient
- Intervertebral disk degenerationHPOHP:0008419
- 2 of 2 reported patients
- Irregular vertebral endplatesHPOHP:0003301
- 1 of 1 reported patient
- Knee osteoarthritisHPOHP:0005086
- 1 of 1 reported patient
Show the remaining 18
- Midface retrusionHPOHP:0011800
- 3 of 3 reported patients
- Phalangeal cone-shaped epiphysesHPOHP:0034281
- 1 of 1 reported patient
- Short femoral neckHPOHP:0100864
- 2 of 2 reported patients
- Short footHPOHP:0001773
- 3 of 3 reported patients
- Short noseHPOHP:0003196
- 3 of 3 reported patients
- Small handHPOHP:0200055
- 3 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HGNC:31527HGNC:31527
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025
- Limited · ClinGen · Autosomal dominant · 2026
Where it sits
- A kind of