MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes

Short rib-polydactyly syndrome, Verma-Naumoff type

ORPHA:93271Malform.
Autosomal recessive

Short stature due to GHSR deficiency

ORPHA:314811Disease
Autosomal dominant, Autosomal recessive

Short stature due to growth hormone qualitative anomaly

ORPHA:629Clin. sub.
Autosomal recessive

Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia

ORPHA:632Clin. sub.
X-linked recessive

Short stature due to partial GHR deficiency

ORPHA:314802Disease
Unknown

Short stature due to primary acid-labile subunit deficiency

ORPHA:140941Disease
Autosomal recessive

Short stature, Brussels type

ORPHA:2867Malform.
Unknown

Short stature-advanced bone age-early-onset osteoarthritis syndrome

ORPHA:435804Disease
Autosomal dominant

Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome

ORPHA:397623Malform.
Autosomal recessive

Short stature-brachydactyly-obesity-global developmental delay syndrome

ORPHA:464288Malform.
Autosomal recessive

Short stature-craniofacial anomalies-genital hypoplasia syndrome

ORPHA:2994Malform.

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

ORPHA:2866Malform.

Short stature-delayed bone age due to thyroid hormone metabolism deficiency

ORPHA:171706Disease
Autosomal recessive

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

ORPHA:314394Disease
Autosomal recessive

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

ORPHA:391677Malform.
Autosomal recessive

Short stature-pituitary and cerebellar defects-small sella turcica syndrome

ORPHA:85442Disease
Autosomal dominant

Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome

ORPHA:589442Malform.
Autosomal recessive

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Malform.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Malform.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Malform.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Malform.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Malform.
Autosomal recessive

Short-limb skeletal dysplasia with severe combined immunodeficiency

ORPHA:935Disease
Not applicable

Shprintzen-Goldberg syndrome

ORPHA:2462Malform.
Autosomal dominant, Multigenic/multifactorial, Not applicable