Term with siblings
HRPT-related hyperuricemia

Aland Island eye disease
Allan-Herndon-Dudley syndrome
amino acid metabolic disorder +
aromatic L-amino acid decarboxylase deficiency
Barth syndrome
bilirubin metabolic disorder +
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
Brunner Syndrome
carbohydrate metabolic disorder +
CD40 ligand deficiency
cerebral amyloid angiopathy +
Charcot-Marie-Tooth disease X-linked recessive 2
Charcot-Marie-Tooth disease X-linked recessive 3
Charcot-Marie-Tooth disease X-linked recessive 4
Charcot-Marie-Tooth disease X-linked recessive 5
CK syndrome
combined oxidative phosphorylation deficiency 6
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
D-glyceric aciduria
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
dopamine beta-hydroxylase deficiency
Duchenne muscular dystrophy
ectodermal dysplasia 1
ectodermal dysplasia and immunodeficiency 1
factor VIII deficiency
familial hypocalciuric hypercalcemia +
familial visceral amyloidosis
Fanconi anemia complementation group B
FG syndrome
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycerol kinase deficiency
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VIII
Gordon Holmes syndrome
Greenberg dysplasia
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
hyperphosphatemic familial tumoral calcinosis
hypogonadotropic hypogonadism 1 with or without anosmia
ichthyosis follicularis-alopecia-photophobia syndrome 1
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency 33
immunodeficiency 34
immunodeficiency 47
immunodeficiency 50
immunoglobulin light chain amyloidosis
isolated elevated serum creatine phosphokinase levels
isolated growth hormone deficiency type III
isolated sulfite oxidase deficiency
Joubert syndrome 10
Keipert syndrome
Kennedy's disease
Lesch-Nyhan syndrome
lipid metabolism disorder +
lysosomal storage disease +
MASA syndrome
MEHMO syndrome
MEND syndrome
metal metabolism disorder +
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
mitochondrial metabolism disease +
multiple acyl-CoA dehydrogenase deficiency
multiple congenital anomalies-hypotonia-seizures syndrome 2
nephrogenic syndrome of inappropriate antidiuresis
non-syndromic X-linked intellectual disability 100
non-syndromic X-linked intellectual disability 101
non-syndromic X-linked intellectual disability 103
non-syndromic X-linked intellectual disability 104
non-syndromic X-linked intellectual disability 105
non-syndromic X-linked intellectual disability 21
non-syndromic X-linked intellectual disability 30
non-syndromic X-linked intellectual disability 46
non-syndromic X-linked intellectual disability 53
non-syndromic X-linked intellectual disability 58
non-syndromic X-linked intellectual disability 72
non-syndromic X-linked intellectual disability 73
non-syndromic X-linked intellectual disability 77
non-syndromic X-linked intellectual disability 81
non-syndromic X-linked intellectual disability 82
non-syndromic X-linked intellectual disability 84
non-syndromic X-linked intellectual disability 9
non-syndromic X-linked intellectual disability 90
non-syndromic X-linked intellectual disability 92
non-syndromic X-linked intellectual disability 93
non-syndromic X-linked intellectual disability 96
non-syndromic X-linked intellectual disability 99
non-syndromic X-linked intellectual disability ARX-related
Norrie disease
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
occipital horn syndrome
oculocerebrorenal syndrome
Opitz GBBB syndrome
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
Paganini-Miozzo syndrome
partial androgen insensitivity syndrome
Partington syndrome
Pelizaeus-Merzbacher disease
peroxisomal disease +
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
phosphoribosylpyrophosphate synthetase superactivity
plasma protein metabolism disease +
porphyria +
Prieto syndrome
primary cutaneous amyloidosis +
primary ovarian insufficiency 2B
purine-pyrimidine metabolic disorder +
pyrimidine metabolic disorder +
Renpenning syndrome
retinitis pigmentosa 23
Ritscher-Schinzel syndrome 2
severe congenital encephalopathy due to MECP2 mutation
Shukla-Vernon syndrome
sideroblastic anemia 1
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
spastic paraplegia with deafness
syndactyly type 8
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked mental retardation 35
thiopurine S-methyltransferase deficiency
transthyretin amyloidosis
Van Esch-O'Driscoll syndrome
variant ABeta2M amyloidosis
vitamin metabolic disorder +
Waisman syndrome
warfarin resistance
warfarin sensitivity
Wilson-Turner syndrome
Wiskott-Aldrich syndrome
X-linked Aarskog syndrome
X-linked adrenal hypoplasia congenita
X-linked agammaglobulinemia
X-linked atrophic macular degeneration
X-linked chondrodysplasia punctata 1
X-linked chronic granulomatous disease
X-linked chronic idiopathic intestinal pseudo-obstruction
X-linked cone-rod dystrophy 3
X-linked congenital hemolytic anemia
X-linked deafness 5
X-linked distal spinal muscular atrophy 3
X-linked dyserythropoietic anemia
X-linked dyskeratosis congenita
X-linked dystonia-parkinsonism
X-linked Emery-Dreifuss muscular dystrophy 1
X-linked Emery-Dreifuss muscular dystrophy 6
X-linked hyper IgM syndrome
X-linked ichthyosis
X-Linked immunodeficiency 74
X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia
X-linked intellectual developmental disorder 108
X-linked intellectual developmental disorder 109
X-linked intellectual disability-short stature-overweight syndrome
X-linked juvenile retinoschisis 1
X-linked keratosis follicularis spinulosa decalvans
X-linked lymphoproliferative syndrome 1
X-linked lymphoproliferative syndrome 2
X-linked mutilating palmoplantar keratoderma with periorificial keratotic plaques
X-linked myopathy with excessive autophagy
X-linked nephrogenic diabetes insipidus
X-linked nephrolithiasis type I
X-linked parkinsonism-spasticity syndrome
X-linked properdin deficiency
X-linked recessive hypophosphatemic rickets
X-linked severe combined immunodeficiency
X-linked severe congenital neutropenia
X-linked sideroblastic anemia with ataxia
X-linked spermatogenic failure 2
X-linked spermatogenic failure 3
X-linked spinal muscular atrophy 2
X-linked spinocerebellar ataxia 1
X-linked spinocerebellar ataxia 5
X-linked spondyloepimetaphyseal dysplasia
X-linked spondyloepiphyseal dysplasia tarda
X-linked thrombocytopenia with beta-thalassemia
X-linked VACTERL association
X-linked warfarin sensitivity
Child term(s)

is-a denotes an 'is-a' relationship