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"

87 matching diseasesClear search ×

OBSOLETE: Eyebrow/eyelashes hypertrichosis

ORPHA:98595

OBSOLETE: Hypertrichotic osteochondrodysplasia

ORPHA:2765

OBSOLETE: Tricho-oculo-dermo-vertebral syndrome

OBSOLETE: Ectodermal dysplasia-cataracts-kyphoscoliosis syndrome · OBSOLETE: Alves-dos Santos-Castelo syndrome

ORPHA:3354

OBSOLETE: Trichodermal syndrome-intellectual disability syndrome

OBSOLETE: Katsantoni-Papadakou Lagoyanni syndrome

ORPHA:3360

OBSOLETE: Trichomegaly-cataract-hereditary spherocytosis syndrome

OBSOLETE: Goldstein-Hutt syndrome

ORPHA:3362

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

ORPHA:2717

Oculotrichodysplasia

Cecato de Lima-Pinheiro syndrome

ORPHA:2718

Odonto-tricho-ungual-digito-palmar syndrome

OTUDP syndrome · Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type

ORPHA:69082

Odontotrichomelic syndrome

Freire-Maia syndrome

ORPHA:2723

Oligocone trichromacy

Oligocone syndrome

ORPHA:75378

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

ORPHA:2739

Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome

PHID

ORPHA:254723

Proliferating trichilemmal cyst

ORPHA:492

Rare disorder with hypertrichosis

ORPHA:79365

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

SOFT syndrome

ORPHA:314394

Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome

ORPHA:168443

Sporotrichosis

ORPHA:826

T-cell/histiocyte rich large B cell lymphoma

THRLBCL

ORPHA:300857

Trichinellosis

Trichinosis

ORPHA:863

Tricho-dento-osseous syndrome

TDO syndrome

ORPHA:3352

Tricho-retino-dento-digital syndrome

Bork syndrome · Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome

ORPHA:1264

Trichodental syndrome

Kersey syndrome

ORPHA:3351

Trichodermodysplasia-dental alterations syndrome

Pinheiro-Freire Maia-Miranda syndrome

ORPHA:3353

Trichodysplasia-amelogenesis imperfecta syndrome

ORPHA:79129

Trichodysplasia-xeroderma syndrome

ORPHA:3361

Trichofolliculoma

ORPHA:864

Trichohepatoenteric syndrome

Syndromic diarrhea · Phenotypic diarrhea

ORPHA:84064

Trichomegaly-retina pigmentary degeneration-dwarfism syndrome

Oliver-McFarlane syndrome · Long eyelashes-intellectual disability syndrome

ORPHA:3363

Trichoodontoonychial dysplasia

Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region

ORPHA:3355

Trichorhinophalangeal syndrome

ORPHA:324764

Trichorhinophalangeal syndrome type 1

ORPHA:77258

Trichorhinophalangeal syndrome type 2

Langer-Giedion syndrome

ORPHA:502

Trichothiodystrophy

ORPHA:33364

Ullrich congenital muscular dystrophy

Ullrich scleroatonic muscular dystrophy · UCMD

ORPHA:75840

Virus-associated trichodysplasia spinulosa

Cyclosporine-induced folliculodystrophy · Pilomatrix dysplasia

ORPHA:228379

Waterhouse-Friderichsen syndrome

ORPHA:100067

Wiskott-Aldrich syndrome

Eczema-thrombocytopenia-immunodeficiency syndrome · WAS

ORPHA:906

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome

ORPHA:1409

X-linked congenital generalized hypertrichosis

Congenital generalized hypertrichosis, Macias-Flores type · Macias Flores-Garcia Cruz-Rivera syndrome

ORPHA:79495