Rare Disease Library

Postinfectious cerebellitis

PIC · Para-infectious cerebellitis

Graham Little-Piccardi-Lassueur syndrome

Graham Little syndrome · Piccardi-Lassueur-Little syndrome

2-aminoadipic 2-oxoadipic aciduria

Alpha-aminoadipic aciduria

Acute biphenotypic leukemia

Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome

Devriendt-Vandenberghe-Fryns syndrome

Atopic keratoconjunctivitis

Atypical autism

Atypical chronic myeloid leukemia

Subacute myeloid leukemia

Atypical dentin dysplasia due to SMOC2 deficiency

Dentin dysplasia type 1 with microdontia and shape anomalies

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

Atypical Gaucher disease due to saposin C deficiency

Atypical glycine encephalopathy

Atypical NKA · Atypical non-ketotic hyperglycinemia

Atypical hemolytic uremic syndrome

aHUS · atypical hemolytic uremic syndrome

Atypical hemolytic uremic syndrome with anti-factor H antibodies

aHUS · aHUS with anti-factor H antibodies

Atypical hemolytic uremic syndrome with complement gene abnormality

aHUS · aHUS with complement gene abnormality

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Atypical juvenile parkinsonism

Atypical lichen myxedematosus

Intermediate lichen myxedematosus

Atypical Meigs syndrome

Atypical Demons-Meigs syndrome · Incomplete Meigs syndrome

Atypical Norrie disease due to Xp11.3 microdeletion

Atypical Norrie disease due to del(X)(p11.3) · Atypical Norrie disease due to nullisomy Xp11.3

Atypical pantothenate kinase-associated neurodegeneration

NBIA1, atypical form · Neurodegeneration with brain iron accumulation type 1, atypical form

Atypical papilloma of choroid plexus

Atypical choroid plexus papilloma · Atypical CPP

Atypical progressive supranuclear palsy syndrome

Atypical PSP syndrome

Atypical Rett syndrome

Atypical RTT · Rett syndrome variant

Atypical teratoid rhabdoid tumor

ATRT

Atypical Timothy syndrome

ATS · Atypical LQT8

Atypical Werner syndrome

Atypical progeroid syndrome

Biological anomaly without phenotypic characterization

Blepharophimosis-ptosis-epicanthus inversus syndrome

BPES

Congenital hypogonadotropic hypogonadism

Congenital myopathy with internal nuclei and atypical cores

CNM4 · Centronuclear myopathy type 4

Cushing syndrome due to ectopic ACTH secretion

Adrenocorticotropic hormone secretion syndrome · Ectopic ACTH secreting tumor

Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome

Cardiogenital syndrome · Malouf syndrome

Ectopic aldosterone-producing tumor

Extra-adrenal aldosterone-producing tumor

Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature

Familial atypical multiple mole melanoma syndrome

B-K mole syndrome · FAMM-PC syndrome

Folliculotropic mycosis fungoides

Mycosis fungoides-associated follicular mucinosis

Functioning gonadotropic adenoma

Functioning pituitary gonadotropic adenoma · Gonadotroph adenoma

HSD10 disease, atypical type

HSD10 deficiency, atypical type · Syndromic X-linked intellectual disability type 10

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome

Salti-Salem syndrome

Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome

Chang-Davidson-Carlson syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome

Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Bosma-Henkin-Christiansen syndrome · Bosma arhinia-microphthalmia syndrome

Isolated congenital hypogonadotropic hypogonadism

Isolated congenital gonadotropin deficiency · Gonadotropic deficiency

Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome

Sohval-Soffer syndrome

Metatropic dysplasia

Metatropic dwarfism