MEDLIB
Orphanet Datenbank

Seltene Erkrankungen

7,547 Erkrankungen mit Genetik, Phänotypen und Epidemiologie

7,547Erkrankungen
4,552Gene
8,700Phänotypen

Short rib-polydactyly syndrome, Verma-Naumoff type

ORPHA:93271Malf.
Autosomal recessive

Short stature due to GHSR deficiency

ORPHA:314811Kr.
Autosomal dominant, Autosomal recessive

Short stature due to growth hormone qualitative anomaly

ORPHA:629Kl. subt.
Autosomal recessive

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

ORPHA:632Kl. subt.
X-linked recessive

Short stature due to partial GHR deficiency

ORPHA:314802Kr.
Unknown

Short stature due to primary acid-labile subunit deficiency

ORPHA:140941Kr.
Autosomal recessive

Short stature, Brussels type

ORPHA:2867Malf.
Unknown

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

ORPHA:435804Kr.
Autosomal dominant

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

ORPHA:397623Malf.
Autosomal recessive

Short stature-brachydactyly-obesity-global developmental delay syndrome

ORPHA:464288Malf.
Autosomal recessive

Short stature-craniofacial anomalies-genital hypoplasia syndrome

ORPHA:2994Malf.

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

ORPHA:2866Malf.

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

ORPHA:171706Kr.
Autosomal recessive

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

ORPHA:314394Kr.
Autosomal recessive

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

ORPHA:391677Malf.
Autosomal recessive

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

ORPHA:85442Kr.
Autosomal dominant

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

ORPHA:589442Malf.
Autosomal recessive

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Malf.
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Malf.
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Malf.

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Malf.
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Malf.
Autosomal recessive

Short-limb skeletal dysplasia with severe combined immunodeficiency

ORPHA:935Kr.
Not applicable

Shprintzen-Goldberg syndrome

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