Rare Disease Library

Hyper-IgE syndrome

Hyper-IgM syndrome type 2

AID deficiency · Activation-induced cytidine deaminase deficiency

Hyper-IgM syndrome type 3

HIGM3 · Hyper-IgM syndrome due to CD40 deficiency

Hyper-IgM syndrome type 4

HIGM4

Hyper-IgM syndrome type 5

HIGM5 · Hyper-IgM syndrome due to UNG deficiency

Hyperimmunoglobulinemia D with periodic fever

HIDS · Hyper-IgD syndrome

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome · Barakat syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

Immunodeficiency-centromeric instability-facial dysmorphism syndrome · Immunodeficiency-centromeric instability-facial anomalies syndrome

Ichthyosis follicularis-alopecia-photophobia syndrome

IFAP syndrome · Ichthyosis follicularis-atrichia-photophobia syndrome

Ichthyosis-hypotrichosis syndrome

Hypotrichosis-congenital ichthyosis syndrome · IFAH syndrome

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Infantile convulsions and choreoathetosis

ICCA syndrome · Paroxysmal kinesigenic dyskinesia and infantile convulsions

Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome

Baker-Gordon syndrome · SYT1-related neurodevelopmental disorder

Insulin-resistance syndrome type B

Iridocorneal endothelial syndrome

ICE syndrome

Isolated Joubert syndrome

CPD IV · Cerebelloparenchymal disorder IV

IVIC syndrome

Oculo-oto-radial syndrome · Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome

Bart-Pumphrey syndrome · Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome

Kyphoscoliotic Ehlers-Danlos syndrome

Kyphoscoliotic EDS · kEDS

Larsen-like syndrome, B3GAT3 type

Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

Leukocyte adhesion deficiency type II

CDG syndrome type IIc · CDG-IIc

Marfan syndrome type 1

MFS1

Marfan syndrome type 2

MFS2

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Mayer-Rokitansky-Küster-Hauser syndrome type 1

Congenital absence of uterus and vagina · MRKH syndrome type 1

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Atypical MRKH syndrome · MRKH syndrome type 2

MGAT2-CDG

CDG syndrome type IIa · CDG-IIa

MOGS-CDG

CDG syndrome type IIb · CDG-IIb

Monoamine oxidase A deficiency

Brunner syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

MPDU1-CDG

CDG syndrome type If · CDG-If

MPI-CDG

CDG syndrome type Ib · CDG-Ib

Mucopolysaccharidosis type 2

Hunter syndrome · Iduronate 2-sulfatase deficiency

Mucopolysaccharidosis type 2, attenuated form

Hunter syndrome type B · Iduronate 2-sulfatase deficiency type B

Mucopolysaccharidosis type 2, severe form

Hunter syndrome type A · Iduronate 2-sulfatase deficiency type A

Nephrosis-deafness-urinary tract-digital malformations syndrome

Braun-Bayer syndrome · Nephrosis-hearing loss-urinary tract-digital malformations syndrome

Nijmegen breakage syndrome

AT V1 · Ataxia-telangiectasia, variant 1

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

OBSOLETE: Antenatal Bartter syndrome

OBSOLETE: Bartter syndrome, furosemide-amiloride type · OBSOLETE: Hyperprostaglandin E syndrome

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Onycho-tricho-dysplasia-neutropenia syndrome

Itin syndrome · ONMR syndrome

Orofaciodigital syndrome type 4

Baraitser-Burn syndrome · Mohr-Majewski syndrome