Also known as: X-LAG (X-linked acrogigantism) due to dup(X)q(26), X-linked acrogigantism, chromosome Xq26 microduplication syndrome, chromosome Xq26.3 DUPLICATION syndrome, chromosome xq26.3 duplication syndrome, X-linked dominant, familial infantile gigantism due to Xq26 microduplication, familial infantile gigantism due to dup(X)q(26)
Also known as: AHC, AHC with HHG, AHC with isolated gonadotropin deficiency, Addison disease, X-linked, X-linked AHC, X-linked adrenal hypoplasia congenita, X-linked congenital adrenal hypoplasia, adrenal hypoplasia congenita, adrenal hypoplasia, congenital, adrenal hypoplasia, congenital, X-linked recessive, adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism, adrenal hypoplasia, congenital, with precocious puberty, adrenal insufficiency, progressive, and hypogonadotropic hypogonadism, congenital adrenal hypoplasia, cytomegalic adrenocortical hypoplasia, cytomegalic congenital adrenal hypoplasia, mineralocorticoid deficiency, isolated
Also known as: ATS, Alport syndrome 1, X-linked, X-linked dominant, Alport syndrome, X-linked, X-linked Alport syndrome, congenital hereditary hematuria, hemorrhagic familial nephritis, hemorrhagic hereditary nephritis, nephropathy and deafness, X-linked
Also known as: calvarial hyperostosis, isolated hyperostosis of the calvarium
Also known as: CHTE, IGSF1 deficiency syndrome, Immunoglobulin superfamily member 1 deficiency syndrome, X-linked central congenital hypothyroidism with late-onset macroorchidism, X-linked central congenital hypothyroidism with late-onset testicular enlargement, central hypothyroidism and testicular enlargement, hypothyroidism Central and testicular enlargement, hypothyroidism, central, and testicular enlargement, hypothyroidism, central, and testicular enlargement, X-linked recessive
Also known as: X-linked hereditary ataxia, cerebellar ataxia, X-linked, hereditary ataxia, X-linked
Also known as: ALD, ALD childhood cerebral form, Addison disease and cerebral sclerosis, Siemerling-Creutzfeldt disease, X-linked cerebral adrenoleukodystrophy, adrenoleukodystrophy, adrenoleukodystrophy X-linked cerebral form, adrenoleukodystrophy childhood cerebral form, adrenomyeloneuropathy, bronze Schilder disease, childhood cerebral ALD, childhood-onset cerebral X-linked adrenoleukodystrophy, melanodermic leukodystrophy
Also known as: X-linked cerebral-cerebellar-coloboma syndrome, X-linked intellectual disability, Kroes type, cerebral-cerebellar-coloboma syndrome, X-linked, cerebral-cerebellar-coloboma syndrome, X-linked, X-linked recessive
Also known as: CPXD, X-linked dominant chondrodysplasia punctata, chondrodysplasia punctata, X-linked, chondrodysplasia punctata, X-linked dominant, chondrodystrophia calcificans congenita
Also known as: ARSE X-linked chondrodysplasia punctata, CDPX1, CPXR, Cpxr, X-linked chondrodysplasia punctata 1, X-linked chondrodysplasia punctata caused by mutation in ARSE, X-linked chondrodysplasia punctata caused by mutation in arse, arse X-linked chondrodysplasia punctata, arylsulfatase E deficiency, brachytelephalangic chondrodysplasia punctata, chondrodysplasia punctata 1 X-linked recessive, chondrodysplasia punctata 1, X-linked recessive, chondrodysplasia punctata brachytelephalangic, chondrodysplasia punctata, Brachytelephalangic, chondrodysplasia punctata, X-linked recessive, X-linked recessive, chondrodysplasia punctata, brachytelephalangic
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