MEDLIB
Orphanet Database

Редкие заболевания

7,547 заболеваний с генами, фенотипами и эпидемиологией

7,547Болезней
4 552Генов
8 700Фенотипов

Short rib-polydactyly syndrome, Verma-Naumoff type

ORPHA:93271Мальформация
Autosomal recessive

Short stature due to GHSR deficiency

ORPHA:314811Заболевание
Autosomal dominant, Autosomal recessive

Short stature due to growth hormone qualitative anomaly

ORPHA:629Клин. подтип
Autosomal recessive

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

ORPHA:632Клин. подтип
X-linked recessive

Short stature due to partial GHR deficiency

ORPHA:314802Заболевание
Unknown

Short stature due to primary acid-labile subunit deficiency

ORPHA:140941Заболевание
Autosomal recessive

Short stature, Brussels type

ORPHA:2867Мальформация
Unknown

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

ORPHA:435804Заболевание
Autosomal dominant

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

ORPHA:397623Мальформация
Autosomal recessive

Short stature-brachydactyly-obesity-global developmental delay syndrome

ORPHA:464288Мальформация
Autosomal recessive

Short stature-craniofacial anomalies-genital hypoplasia syndrome

ORPHA:2994Мальформация

Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome

ORPHA:2866Мальформация

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

ORPHA:171706Заболевание
Autosomal recessive

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

ORPHA:314394Заболевание
Autosomal recessive

Short stature-optic atrophy-Pelger-Huët anomaly syndrome

ORPHA:391677Мальформация
Autosomal recessive

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

ORPHA:85442Заболевание
Autosomal dominant

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

ORPHA:589442Мальформация
Autosomal recessive

Short stature-valvular heart disease-characteristic facies syndrome

ORPHA:2868Мальформация
Autosomal dominant

Short stature-webbed neck-heart disease syndrome

ORPHA:2865Мальформация
Unknown

Short stature-wormian bones-dextrocardia syndrome

ORPHA:2863Мальформация

Short tarsus-absence of lower eyelashes syndrome

ORPHA:2832Мальформация
Autosomal dominant

Short ulna-dysmorphism-hypotonia-intellectual disability syndrome

ORPHA:357175Мальформация
Autosomal recessive

Short-limb skeletal dysplasia with severe combined immunodeficiency

ORPHA:935Заболевание
Not applicable

Shprintzen-Goldberg syndrome

ORPHA:2462Мальформация
Autosomal dominant, Multigenic/multifactorial, Not applicable