Orphanet Database • Orphadata CC-BY-4.0
Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
7,547
Заболеваний
4 552
Генов
8 700
Фенотипов
140
Регионов
Все (7,547)Biological anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformation syndromeMorphological anomalyParticular clinical situation in a disease or syndrome
Intellectual disability, Wolff type
Neonatal
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Autosomal dominant
Infancy
Intellectual disability-balding-patella luxation-acromicria syndrome
X-linked recessive
Infancy, Neonatal
Intellectual disability-brachydactyly-Pierre Robin syndrome
Neonatal
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Autosomal dominant
Infancy, Neonatal
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Autosomal dominant
Childhood, Infancy
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Autosomal recessive
Infancy
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Unknown
Childhood
Intellectual disability-early-onset cataract-microcephaly syndrome
Infancy
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
Autosomal dominant
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
Unknown
Infancy
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Autosomal recessive
Infancy, Neonatal
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
Autosomal dominant, Autosomal recessive
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
Autosomal recessive
Neonatal
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Autosomal recessive
Infancy, Neonatal
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
Autosomal dominant
Infancy, Neonatal
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
Autosomal dominant
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Autosomal dominant
Infancy, Neonatal
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Unknown
Infancy, Neonatal
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
Autosomal dominant
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
Autosomal recessive
Intellectual disability-polydactyly-uncombable hair syndrome
Neonatal
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Autosomal recessive
Infancy, Neonatal