Disease Index
9,486 diseaseshypogonadotropic hypogonadism-retinitis pigmentosa syndrome
MeSH: C538075
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
human disease
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
human disease
hypohidrotic ectodermal dysplasia
no proof
ICD: Q82.4MeSH: D053358
Hypohidrotic ectodermal dysplasia with immune deficiency
medical condition
MeSH: C536181
hypoinsulinemic hypoglycemia and body hemihypertrophy
human disease
hypokalemic periodic paralysis
Human disease
MeSH: D020514
hypolipoproteinemia
Human disease
MeSH: D007009
hypomandibular faciocranial dysostosis
MeSH: C537154
hypomaturation amelogenesis imperfecta
human disease
MeSH: C536606
hypomyelinating leukodystrophy 12
Human disease
hypomyelinating leukodystrophy 2
Human disease
hypomyelinating leukodystrophy 3
Human disease
hypomyelinating leukodystrophy 4
Human disease
hypomyelinating leukodystrophy 5
Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit
MeSH: C567166
hypomyelinating leukodystrophy 6
Human disease
hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism
Human disease
hypomyelinating leukodystrophy 9
hypomyelinating leukodystrophy characterized by delayed psychomotor development, spasticity, and nystagmus starting in the first year of life that has material basis in compound heterozygous mutation in the RARS gene on chromosome 5q34
hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism
human disease
hypomyelinating leukoencephalopathy
Human disease
ICD: E75.2
hypomyelination with brain stem and spinal cord involvement and leg spasticity
human disease
hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome is characterised by the association of demyelinating leukodystrophy with progressive cerebellar ataxia, hypogonadotropic hypogonadism and hypodontia
hypoparathyroidism
endocrine disease
MeSH: D007011
hypoparathyroidism-deafness-renal disease syndrome
characterized by autosomal dominant inheritance of hypoparathyroidism, sensorineural deafness and progressive renal failure that has material basis in chromosome deletion that results in haploinsufficiency of the GATA3 gene on chromosome 10p14
MeSH: C537907
hypoparathyroidism-retardation-dysmorphism syndrome
Human disease
MeSH: C537157
hypoparathyroidism, familial isolated
human disease
MeSH: C537156
hypophosphatasia
rare, and sometimes fatal, metabolic bone disease
MeSH: D007014
hypophosphatemic nephrolithiasis/osteoporosis 1
Human disease
MeSH: C567363
hypophosphatemic nephrolithiasis/osteoporosis 2
Human disease
MeSH: C567362
hypophosphatemic rickets, X-linked recessive
human disease