Disease Index
9,486 diseaseshyperphalangy, unilateral
human disease
Hyperphenylalaninemia, mild, non-BH4-deficient
rare genetic disorder
hyperphosphatasia-intellectual disability syndrome
human disease
hyperphosphatemic familial tumoral calcinosis
human disease
hyperpigmentation of the skin
human disease
hyperplastic polyposis syndrome
condition causing a higher risk of colorectal cancer
hyperprolactinemia
acquired metabolic disease that has material basis in the presence of abnormally-high levels of prolactin in the blood
MeSH: D006966
hyperprolinemia
human disease
ICD: E72.5MeSH: C538385
hyperprolinemia type 1
hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11
hyperprolinemia type 2
hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the pyrroline-5-carboxylate dehydrogenase gene on chromosome 1p36
hypertelorism-hypospadias-polysyndactyly syndrome
Hypertelorism-hypospadias-polysyndactyly syndrome is a very rare syndrome associating an acro-fronto-facio-nasal dysostosis with genitourinary anomalies
MeSH: C538332
hypertelorism-preauricular sinus-punctual pits-deafness syndrome
human disease
hypertelorism, microtia, facial clefting syndrome
autosomal recessive disease that is characterized by the combination of hypertelorism, cleft lip and palate and microtia
MeSH: C537632
Hypertelorism, Teebi type
human disease
hypertension and brachydactyly syndrome
human disease
MeSH: C537095
hypertrichosis
hair disease characterized by hair growth that is abnormal in quantity or location
MeSH: D006983
hypertrichosis cubiti-short stature syndrome
human disease
MeSH: C535618
hypertrichosis lanuginosa congenita
Hypertrichosis lanuginosa congenita is a rare congenital skin disease characterized by the presence of 3 to 5cm long lanugo-type hair on the entire body, with the exception of palms, soles, and mucous membranes
MeSH: C538389
hypertrichosis-acromegaloid facial appearance syndrome
hypertrophic cardiomyopathy
disease in which the heart muscle is enlarged
MeSH: D002312
hypertrophic cardiomyopathy 10
hypertrophic cardiomyopathy that has material basis in mutation in the MYL2 gene
MeSH: C563865
hypertrophic cardiomyopathy 11
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the ACTC1 gene on chromosome 15q14
MeSH: C567419
hypertrophic cardiomyopathy 12
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the CSRP3 gene on chromosome 11p15
hypertrophic cardiomyopathy 13
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the TNNC1 gene on chromosome 3p21
MeSH: C567686
hypertrophic cardiomyopathy 14
hypertrophic cardiomyopathy that has material basis in mutation in the MYH6 gene
MeSH: C567684
hypertrophic cardiomyopathy 15
human disease
MeSH: C567681
hypertrophic cardiomyopathy 16
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the MYOZ2 gene on chromosome 4q26
hypertrophic cardiomyopathy 17
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the junctophilin gene (JPH2) on chromosome 20q12
hypertrophic cardiomyopathy 18
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the gene encoding phospholamban (PLN) on chromosome 6q22.1
hypertrophic cardiomyopathy 19
hypertrophic cardiomyopathy that has material basis in heterozygous mutation in the calreticulin gene (CALR3) on chromosome 19p13.11