Rare Disease Library

Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome

HUPRA syndrome

Hypoglossia-hypodactyly syndrome

Aglossia-adactylia syndrome · Hanhart syndrome

Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome

HELIX syndrome

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

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

Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome

HOPP syndrome · Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome

IBIDS syndrome

Tay syndrome · Trichothiodystrophy type E

ICF syndrome

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

Intellectual disability-spasticity-ectrodactyly syndrome

Jancar syndrome

Iridocorneal endothelial syndrome

ICE syndrome

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Isolated hemihyperplasia

Hemi 3 syndrome · Hemicorporal hypertrophy

JMP syndrome

Joint contractures-muscular atrophy-microcytic anemia-panniculitis-associated lipodystrophy syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

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

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

Mammary-digital-nail syndrome

MDN syndrome · Onycho-digito-mammary syndrome

Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome

MDPL syndrome · MDP syndrome

Matthew-Wood syndrome

Spear syndrome · Anophthalmia-pulmonary hypoplasia syndrome

Maxillonasal dysplasia

Binder syndrome · Maxillonasal dysostosis

Megalocornea-intellectual disability syndrome

MMR syndrome · Neuhäuser syndrome

Microphthalmia with linear skin defects syndrome

MCOPS7 · MIDAS syndrome

Miller Fisher syndrome

Cranial variant of GBS · Cranial variant of Guillain-Barré syndrome

Monosomy 18p syndrome

18p- syndrome · De Grouchy syndrome type 1

Monosomy 18q syndrome

18q- syndrome · Deletion 18q

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

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

Multiple endocrine neoplasia type 1

MEN1 · Wermer syndrome

Multiple endocrine neoplasia type 2A

MEN2A · PTC syndrome

Multiple synostoses syndrome

Deafness-Hermann type symphalangism syndrome · Facio-audio-symphalangism

Muscle-eye-brain disease

MEB syndrome · Muscle-eye-brain syndrome

Musculocontractural Ehlers-Danlos syndrome

Musculocontractural EDS · mcEDS

Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality

5q- syndrome · MDS

N syndrome

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

Nager syndrome

Mandibulofacial dysostosis with preaxial limb anomalies · NAFD

NAME syndrome

Nevi-atrial myxoma-myxoid neurofibromata-ephelides syndrome

Neurogenic scapuloperoneal syndrome, Kaeser type

Kaeser syndrome · Stark-Kaeser syndrome

Nodulosis-arthropathy-osteolysis syndrome

NAO syndrome

Noonan syndrome-like disorder with juvenile myelomonocytic leukemia

CBL syndrome · Noonan syndrome-like disorder with JMML

Odontomatosis-aortae esophagus stenosis syndrome

Bader syndrome

Oliver syndrome

Postaxial polydactyly-intellectual disability syndrome