Rare diseases

Rare diseases are among the hardest to diagnose. We believe medical doctors would benefit from an organised list of disorders from the disparate organisations and medical resources available. In the same way NORD and Eurodis provide information and support for patients, we collaborate with and provide information for health researchers and professionals. From here you can browse orphan, genetic or rare disorders along with summary statistics and links to further information.

Rare Diseases by name

Name
HYPOSMIA-NASAL AND OCULAR HYPOPLASIA-HYPOGONADOTROPIC HYPOGONADISM SYNDROME	View info
HYPOSPADIAS 1, X-LINKED; HYSP1	View info
HYPOTHYROIDISM DUE TO DEFICIENT TRANSCRIPTION FACTORS INVOLVED IN PITUITARY DEVELOPMENT OR FUNCTION	View info
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1	View info
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2; CHNG2	View info
HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 4; CHNG4	View info
HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE	View info
HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS	View info
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1; IHPRF1	View info
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 2; IHPRF2	View info
HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3; IHPRF3	View info
HYPOTONIA-CYSTINURIA SYNDROME	View info
HYPOTRICHOSIS 12; HYPT12	View info
HYPOTRICHOSIS 13; HYPT13	View info
HYPOTRICHOSIS 1; HYPT1	View info
HYPOTRICHOSIS 8; HYPT8	View info
HYPOTRICHOSIS, CONGENITAL, WITH JUVENILE MACULAR DYSTROPHY; HJMD	View info
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA SYNDROME; HLTS	View info
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME	View info
HYPOTRICHOSIS-LYMPHEDEMA-TELANGIECTASIA-RENAL DEFECT SYNDROME; HLTRS	View info

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