Multiple epiphyseal dysplasia Al-Gazali type

disorder

SNOMED 719688002CUI C4304500

Overview

Multiple epiphyseal dysplasia Al-Gazali type is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Big calvaria

Very frequent (80-99%)HP:0000256

Clinodactyly

Very frequent (80-99%)HP:0030084

Epiphyseal ossification delay

Very frequent (80-99%)HP:0002663

Frontal protuberance

Very frequent (80-99%)HP:0002007

Genu valga

Very frequent (80-99%)HP:0002857

Increased distance between eyes

Very frequent (80-99%)HP:0000316

Increased width of bridge of nose

Very frequent (80-99%)HP:0000431

Low intelligence

Very frequent (80-99%)HP:0001249

Molar tooth sign

Very frequent (80-99%)HP:0002419

Multiple epiphyseal dysplasia

Very frequent (80-99%)HP:0002654

Pectus excavatum

Very frequent (80-99%)HP:0000767

Prominent joints

Very frequent (80-99%)HP:0003037

Skeletal anomalies

Very frequent (80-99%)HP:0000924

Spindle-shaped finger

Very frequent (80-99%)HP:0031092

Triangular shaped mouth

Very frequent (80-99%)HP:0000207

Absence of corpus callosum

Frequent (30-79%)HP:0001274

Arthritic pain

Frequent (30-79%)HP:0002829

Decreased body height

Frequent (30-79%)HP:0004322

Hypoplasia of corpus callosum

Frequent (30-79%)HP:0002079

Cutaneous syndactyly of digits

Occasional (5-29%)HP:0012725

Supratentorial atrophy

Occasional (5-29%)HP:0002059

Multiple vertebral anomalies

Very rare (1-4%)HP:0003468

Related Conditions

Multiple epiphyseal dysplasia(parent)

Recessive hereditary disorder (autosomal)(parent)

Quick Facts

SNOMED CT: 719688002
UMLS CUI: C4304500
Fully Specified Name: Multiple epiphyseal dysplasia Al-Gazali type (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 22

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.