Disease Index
9,486 diseasesHypopigmentation-punctate palmoplantar keratoderma syndrome
human disease
hypopituitarism
pituitary gland disease characterized by the decreased secretion of one or more of the eight hormones normally produced by the pituitary gland
MeSH: D007018
hypoplasia of the mitral valve annulus
human disease
hypoplasminogenemia
medical condition
MeSH: C580017
hypoplastic amelogenesis imperfecta
human disease
hypoplastic left heart syndrome
congenital heart disease characterized by abnormal development of the left-sided structures of the heart
MeSH: D018636
hypoplastic right heart syndrome
congenital heart disease characterized by underdevelopment of the structures on the right side of the heart commonly associated with atrial septal defect
hypoplastic tibiae-postaxial polydactyly syndrome
a very rare congenital malformation syndrome characterized by bilateral hypoplasia of the tibia with polydactyly of the feet and hands
MeSH: C535564
Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
human disease
MeSH: C564603
hypoprothrombinemia
Human disease
ICD: D68.2MeSH: D007020
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
This syndrome is characterized by the association of severe nasal hypoplasia, hypoplasia of the eyes, hyposmia, hypogeusia and hypogonadotropic hypogonadism
hypospadias
condition in which the urethra does not open from the head of the penis
MeSH: D007021
hypospadias-intellectual disability, Goldblatt type syndrome
MeSH: C563067
hypospadias, hypertelorism, upper 51D coloboma, and mixed-type hearing loss
human disease
MeSH: C566373
hypothalamic adipsic hypernatraemia syndrome
human disease
hypothalamic hamartomas with gelastic seizures
hypothyroidism
human disease
ICD: E03.9MeSH: D007037
hypothyroidism due to deficient transcription factors involved in pituitary development or function
hypotonia-cystinuria syndrome
human disease
hypotonia-cystinuria syndrome type 1
human disease
hypotonia-speech impairment-severe cognitive delay syndrome
hypotonia, infantile, with psychomotor retardation and characteristic facies 1
human disease
hypotrichosis
hair disease that is characterized by sparse hair on the scalp resulting from abnormal hair follicle development and has material basis in mutations in proteins involved in hair growth, division or proliferation of cells within hair follicles
MeSH: D007039
hypotrichosis simplex
Hypotrichosis simplex (HS) or hereditary hypotrichosis simplex (HHS) is characterized by reduced pilosity over the scalp and body (with sparse, thin, and short hair) in the absence of other anomalies
MeSH: C537160
hypotrichosis simplex of the scalp
Hypotrichosis simplex of the scalp (HSS) is characterized by diffuse progressive hair loss that is confined to the scalp
hypotrichosis with juvenile macular dystrophy
a hypotrichosis that has material basis in a autosomal recessive mutation of CDH3 on chromosome 16q22.1.
MeSH: C537698
hypotrichosis-deafness syndrome
human disease
hypotrichosis-intellectual disability, Lopes type
Hypotrichosis-intellectual disability, Lopes type is characterised by hypotrichosis, syndactyly, intellectual deficit and early eruption of teeth. It has been described in two patients. The mode of transmission appears to be autosomal recessive.
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
Hypotrichosis - lymphedema - telangiectasia is an extremely rare syndromic lymphedema disorder characterized by early-onset hypotrichosis, childhood-onset lymphedema, and variable telangiectasia, particularly of the palms
Hypotrichosis–acro-osteolysis–onychogryphosis–palmoplantar keratoderma–periodontitis syndrome
medical condition
MeSH: C564357