Rare Disease Library

H syndrome

Hajdu-Cheney syndrome

Acroosteolysis dominant type · Acroosteolysis with osteoporosis and changes in skull and mandible

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Holmes-Gang syndrome

Holoprosencephaly-craniosynostosis syndrome

Camero-Lituania-Cohen syndrome · Genoa syndrome

Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome

4H syndrome

Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome

MOMES syndrome

IVIC syndrome

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

Joubert syndrome with hepatic defect

COACH syndrome · Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis

Juvenile hyaline fibromatosis

Murray-Puretic-Drescher syndrome · Puretic syndrome

L1 syndrome

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

Laryngeal abductor paralysis

Familial vocal cord dysfunction · Gerhardt syndrome

Laryngo-onycho-cutaneous syndrome

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

MAGIC syndrome

Mouth and genital ulcers-inflamed cartilage syndrome

Menkes disease

Menkes kinky hair disease · MD

Microcephaly-capillary malformation syndrome

MIC-CAP syndrome · MIC-CM syndrome

Middle aortic syndrome

MAC · Coarctation of the abdominal aorta

Monosomy 9p syndrome

9p deletion syndrome · 9p- syndrome

Multiple synostoses syndrome

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

Myelodysplastic neoplasm with increased blasts

MDS · MDS with excess blasts

Myelodysplastic neoplasm with increased blasts type 1

MDS · MDS-IB1

Myelodysplastic neoplasm with increased blasts type 2

MDS · MDS-IB2

Myelodysplastic neoplasm with low blasts

MDS · MDS-LB

Myelodysplastic syndrome

MDS · Myelodysplastic syndromes

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

5q- syndrome · MDS

Myelodysplastic/myeloproliferative disease

MDS · Myelodysplastic syndromes

N syndrome

Neuromyelitis optica spectrum disorder

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder with anti-MOG antibodies

Devic disease · Devic syndrome

Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies

Devic disease · Devic syndrome

Oculotrichoanal syndrome

MOTA syndrome · Manitoba oculotrichoanal syndrome

PHACE syndrome

Pascual-Castroviejo syndrome type 2 · PHACES syndrome

Primary ciliary dyskinesia, Kartagener type

Dextrocardia-bronchiectasis-sinusitis syndrome · Immotile cilia syndrome, Kartagener type

Primary hemophagocytic lymphohistiocytosis

Genetic hemophagocytic lymphohistiocytosis · Genetic HLH

Rare non-syndromic genetic deafness

Rare syndromic genetic deafness

Rare syndromic genetic hearing loss

Scimitar syndrome

Congenital pulmonary venolobar syndrome · Epibronchial right pulmonary vein syndrome

Seizures-scoliosis-macrocephaly syndrome

SSM syndrome

Semicircular canal dehiscence syndrome

SCD syndrome

Severe dermatitis-multiple allergies-metabolic wasting syndrome

Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome · SAM syndrome

Syndromic genetic cataract

Syndromic genetic ectopia lentis

Syndromic genetic keratoconus

Therapy related acute myeloid leukemia and myelodysplastic syndrome

Acute myeloid leukemia · AML

Thoracolaryngopelvic dysplasia

Barnes syndrome

Thymoma-hypogammaglobulinemia syndrome

Good syndrome

Townes-Brocks syndrome

Sensorineural hearing loss with imperforate anus and hypoplastic thumbs · REAR syndrome