Rare diseases · Sign or symptom
Abnormal diaphysis morphology
Abnormal shape of shaft of long bone
HP:0000940
What it means
An abnormality of the structure or form of the diaphysis, i.e., of the main or mid-section (shaft) of a long bone.
Rare diseases that can present with this17
Very common80–99%
11- Camurati-Engelmann disease
- Cartilage-hair hypoplasia
- Coffin-Lowry syndrome
- Cranioectodermal dysplasia
- Craniometadiaphyseal dysplasia, wormian bone type
- Dermatoosteolysis, Kirghizian type
- Fibrochondrogenesis
- GM1 gangliosidosis
- Juvenile hyaline fibromatosis
- Osteopathia striata-pigmentary dermopathy-white forelock syndrome
- Otoonychoperoneal syndrome
Common30–79%
4The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Also called: Abnormality involving the diaphyses of the limbs · Abnormality of shaft of long bone of the limbs · Abnormality of the diaphyses · Anomaly of the limb diaphyses · Anomaly of the limb diaphyses morphology
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Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.