Rare diseases · Sign or symptom
Reduced bone mineral density
Low solidness and mass of the bones
HP:0004349
What it means
A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones.
Rare diseases that can present with this76
Very common80–99%
21- 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
- 46,XY difference of sex development due to isolated 17,20-lyase deficiency
- Atypical Werner syndrome
- Autosomal recessive malignant osteopetrosis
- Coxoauricular syndrome
- Difference of sex development-intellectual disability syndrome
- Distal renal tubular acidosis
- Hallermann-Streiff syndrome
- Hereditary sensory and autonomic neuropathy type 2
- Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
- Intellectual disability, Buenos-Aires type
- Larsen-like osseous dysplasia-short stature syndrome
- Metaphyseal chondrodysplasia, Spahr type
- Microcephalic primordial dwarfism, Montreal type
- Mucopolysaccharidosis type 4
- Nasu-Hakola disease
- Phakomatosis pigmentovascularis
- Seizures-scoliosis-macrocephaly syndrome
- Spinocerebellar ataxia-dysmorphism syndrome
- Xp21deletion syndrome
- X small rings syndrome
Common30–79%
21- 46,XX gonadal dysgenesis
- Adrenomyodystrophy
- Beta-thalassemia
- Beta-thalassemia intermedia
- Cooper-Jabs syndrome
- Free sialic acid storage disease
- Hereditary hypophosphatemic rickets with hypercalciuria
- Hypergonadotropic hypogonadism-cataract syndrome
- Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
- Kallmann syndrome
- Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
- Lipodystrophy due to peptidic growth factors deficiency
- Marshall-Smith syndrome
- Multiple endocrine neoplasia type 1
- Orofaciodigital syndrome type 1
- Osteogenesis imperfecta
- Progressive familial intrahepatic cholestasis
- Rothmund-Thomson syndrome
- Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
- Short-limb skeletal dysplasia with severe combined immunodeficiency
- X-linked hypophosphatemia
The 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: Decreased bone mineral density · Decreased bone mineral density Z score
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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.