Rare Disease Library

OBSOLETE: Autosomal dominant childhood-onset cortical cataract

OBSOLETE: Autosomal dominant childhood-onset progressive cortical cataract

OBSOLETE: Autosomal dominant coarctation of aorta

OBSOLETE: Autosomal dominant focal dystonia, DYT7 type

OBSOLETE: Adult-onset focal torsion dystonia · OBSOLETE: Adult-onset idiopathic torsion dystonia

OBSOLETE: Autosomal dominant limb-girdle muscular dystrophy type 1H

OBSOLETE: LGMD1H

OBSOLETE: Autosomal dominant Opitz G/BBB syndrome

OBSOLETE: Autosomal dominant Opitz BBB/G syndrome · OBSOLETE: ADOS

OBSOLETE: Autosomal dominant optic atrophy and late-onset deafness

OBSOLETE: Autosomal dominant spastic paraplegia type 9

OBSOLETE: SPG9

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a channelopathy

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a point mutation

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to a polyglutamine anomaly

OBSOLETE: Autosomal dominant spinocerebellar ataxia due to repeat expansions that do not encode polyglutamine

OBSOLETE: Autosomal dominant trichoodontoonychodysplasia-syndactyly

OBSOLETE: Trueb-Burg-Bottani syndrome

OBSOLETE: Autosomal recessive childhood-onset cortical cataract

OBSOLETE: Autosomal recessive hyper-IgE syndrome

OBSOLETE: AR-HIES · OBSOLETE: Autosomal recessive HIES

OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

OBSOLETE: Autosomal recessive LGMD with cerebellar involvement

OBSOLETE: Autosomal recessive optic atrophy

OBSOLETE: Autosomal recessive optic atrophy, OPA6 type

OBSOLETE: Autosomal recessive optic atrophy, OPA9 type

OBSOLETE: Autosomal recessive syndromic optic atrophy

OBSOLETE: AymÚ-Gripp syndrome

OBSOLETE: Bacterial susceptibility due to TLR signaling pathway deficiency

OBSOLETE: Basal epidermolysis bullosa simplex

OBSOLETE: Basement membrane disease

OBSOLETE: Beckwith-Wiedemann syndrome due to NSD1 mutation

OBSOLETE: Benign essential blepharospasm

OBSOLETE: Primary blepharospasm

OBSOLETE: Benign exophthalmos syndrome

OBSOLETE: BES

OBSOLETE: Benign infantile seizures associated with mild gastroenteritis

OBSOLETE: Benign tumor of palpebral epidermis

OBSOLETE: Binswanger disease

OBSOLETE: Blaichman syndrome

OBSOLETE: Tracheo-esophageal fistula-symphalangism syndrome

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to 3q23 rearrangement syndrome

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a point mutation syndrome

OBSOLETE: Blepharophimosis types 1 and 2 due to a point mutation

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to copy number variations

OBSOLETE: Blepharophimosis-epicanthus inversus-ptosis due to a CNV · OBSOLETE: Blepharophimosis types 1 and 2 due to copy number variations

OBSOLETE: Blepharophimosis-radioulnar synostosis syndrome

OBSOLETE: Jorgenson-Lenz syndrome

OBSOLETE: Blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome

OBSOLETE: Rodini-Richieri Costa syndrome

OBSOLETE: Bone disease with increased bone density and metaphyseal or diaphyseal involvement

OBSOLETE: Bone dysplasia, Azouz type

OBSOLETE: Borderline epithelial tumor of ovary

OBSOLETE: Borderline ovarian epithelial tumor · OBSOLETE: Ovarian tumor of low malignant potential

OBSOLETE: Bowed tibiae-radial anomalies-osteopenia-fractures syndrome

OBSOLETE: Chitty-Hall-Webb syndrome

OBSOLETE: Brachydactyly

OBSOLETE: Brachydactyly group

OBSOLETE: Brachydactyly with or without extraskeletal manifestations

OBSOLETE: Brachydactyly of fingers

OBSOLETE: Short fingers

OBSOLETE: Brachydactyly of fingers, bilateral

OBSOLETE: Short fingers, bilateral

OBSOLETE: Brachydactyly of fingers, unilateral

OBSOLETE: Short fingers, unilateral

OBSOLETE: Brachydactyly of toes

OBSOLETE: Short toes

OBSOLETE: Brachydactyly of toes, bilateral

OBSOLETE: Short toes, bilateral

OBSOLETE: Brachydactyly of toes, unilateral

OBSOLETE: Short toes, unilateral

OBSOLETE: Brain stem tumor