Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

10,911 rare diseases

OBSOLETE: Unclassified autosomal dominant spinocerebellar ataxia

ORPHA:98073

OBSOLETE: Unclassified familial retinal dystrophy

ORPHA:98662

OBSOLETE: Unclassified glomerulonephritis

ORPHA:97569

OBSOLETE: Unclassified metaphyseal chondrodysplasia

ORPHA:90345

OBSOLETE: Unclassified overlapping connective tissue disease

ORPHA:251316

OBSOLETE: Unclassified primitive or secondary maculopathy

ORPHA:98666

OBSOLETE: Unclassified spondylometaphyseal dysplasia

ORPHA:163678

OBSOLETE: Undetermined colitis

ORPHA:103920

OBSOLETE: Uniparental disomy of chromosome 1

OBSOLETE: UPD(1)

ORPHA:263019

OBSOLETE: Uniparental disomy of chromosome 11

OBSOLETE: UPD(11)

ORPHA:263034

OBSOLETE: Uniparental disomy of chromosome 13

OBSOLETE: UPD(13)

ORPHA:263044

OBSOLETE: Uniparental disomy of chromosome 14

OBSOLETE: UPD(14)

ORPHA:263049

OBSOLETE: Uniparental disomy of chromosome 15

OBSOLETE: UPD(15)

ORPHA:263054

OBSOLETE: Uniparental disomy of chromosome 20

OBSOLETE: UPD(20)

ORPHA:263059

OBSOLETE: Uniparental disomy of chromosome 21

OBSOLETE: UPD(21)

ORPHA:263064

OBSOLETE: Uniparental disomy of chromosome 6

OBSOLETE: UPD(6)

ORPHA:263024

OBSOLETE: Uniparental disomy of chromosome 7

OBSOLETE: UPD(7)

ORPHA:263029

OBSOLETE: Univentricular heart with single atrio-ventricular valve

ORPHA:99069

OBSOLETE: Unknown leukodystrophy

ORPHA:84096

OBSOLETE: Unstable hemoglobin disease

ORPHA:99139

OBSOLETE: Upper thoracic spina bifida aperta

ORPHA:268740

OBSOLETE: Upper thoracic spina bifida cystica

ORPHA:268770

OBSOLETE: Van den Bosch syndrome

ORPHA:3417

OBSOLETE: Van Regemorter-Pierquin-Vamos syndrome

ORPHA:3419

OBSOLETE: Vascular disruption sequence

ORPHA:3160

OBSOLETE: Vascular malposition

ORPHA:2452

OBSOLETE: Vascular tumor with associated anomalies

ORPHA:458827

OBSOLETE: Vestibular torticollis

ORPHA:99663

OBSOLETE: Vibratory angioedema

ORPHA:493348

OBSOLETE: Vitiligo-associated autoimmune disease

ORPHA:247871

OBSOLETE: Vitreoretinal degeneration

ORPHA:98670

OBSOLETE: Von Hippel anomaly

ORPHA:98941

OBSOLETE: X chromosome anomaly

ORPHA:263711

OBSOLETE: X-linked acrogigantism due to a point mutation

OBSOLETE: Familial infantile gigantism due to a point mutation · OBSOLETE: X-LAG (X-linked acrogigantism) due to a point mutation

ORPHA:448348

OBSOLETE: X-linked acrogigantism due to Xq26 microduplication

OBSOLETE: X-LAG due to dup(X)q(26) · OBSOLETE: Familial infantile gigantism due to dup(X)q(26)

ORPHA:448372

OBSOLETE: X-linked congenital disorder of glycosylation with intellectual disability as a major feature

OBSOLETE: X-linked CDG with intellectual disability as a major feature

ORPHA:371054

OBSOLETE: X-linked dominant intellectual disability-epilepsy syndrome

ORPHA:93951

OBSOLETE: X-linked intellectual disability-obesity-short stature syndrome

ORPHA:85331

OBSOLETE: X-linked intellectual disability-precocious puberty-obesity syndrome

ORPHA:85318

OBSOLETE: X-linked intellectual disability, Martinez type

ORPHA:775

OBSOLETE: X-linked intellectual disability, Raynaud type

ORPHA:3061

OBSOLETE: X-linked intellectual disability, Schutz type

ORPHA:3062

OBSOLETE: X-linked intellectual disability, Wittner type

ORPHA:3064

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency

OBSOLETE: X-linked MSMD due to CYBB deficiency

ORPHA:319623

OBSOLETE: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency

OBSOLETE: X-linked MSMD due to NEMO deficiency · OBSOLETE: X-linked MSMD due to IKBKG deficiency

ORPHA:319612

OBSOLETE: X-linked Opitz G/BBB syndrome

OBSOLETE: XLOS · OBSOLETE: X-linked Opitz syndrome

ORPHA:306597

OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy

ORPHA:140462

OBSOLETE: X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome

ORPHA:83648