Редкие (орфанные) заболевания
Полная база данных 7,547 заболеваний с генетикой, фенотипами, эпидемиологией, лекарствами и клиническими исследованиями.
Familial monosomy 7 syndrome
Childhood, Infancy
Familial multinodular goiter
Autosomal dominant
Adolescent
Familial multiple discoid fibromas
Adolescent, Adult, Childhood, Infancy, Neonatal
Familial multiple lipomatosis
Adolescent, Adult, Infancy
Familial multiple meningioma
Autosomal dominant
All ages
Familial nasal acilia
Neonatal
Familial or sporadic hemiplegic migraine
Autosomal dominant
Childhood
Familial ossifying fibroma
Autosomal dominant
Adolescent, Adult, Childhood
Familial osteochondritis dissecans
Autosomal dominant
Childhood
Familial pancreatic carcinoma
Autosomal dominant, Multigenic/multifactorial
Adult
Familial papillary or follicular thyroid carcinoma
Not applicable
Adult
Familial papillary thyroid carcinoma with renal papillary neoplasia
Elderly
Familial paroxysmal ataxia
Autosomal dominant
Childhood
Familial partial lipodystrophy, Dunnigan type
Autosomal dominant
Adolescent, Adult, Childhood, Elderly
Familial partial lipodystrophy, Köbberling type
Autosomal dominant
Childhood
Familial peripheral male-limited precocious puberty
Autosomal dominant
Childhood
Familial platelet disorder with associated myeloid malignancy
Autosomal dominant
Familial primary localized cutaneous amyloidosis
Autosomal dominant
All ages
Familial progressive hyper- and hypopigmentation
Autosomal dominant
Infancy, Neonatal
Familial progressive hyperpigmentation
Autosomal dominant
Infancy, Neonatal
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Autosomal dominant
Childhood, Infancy
Familial prostate cancer
Not applicable
Adult
Familial pseudohyperkalemia
Autosomal dominant
All ages
Familial reactive perforating collagenosis
Childhood