Term with siblings
Paganini-Miozzo syndrome

adrenoleukodystrophy
Aland Island eye disease
Allan-Herndon-Dudley syndrome
Armfield syndrome
Arts syndrome
Barth syndrome
Basilicata-Akhtar syndrome
blue cone monochromacy
Borjeson-Forssman-Lehmann syndrome
Borjeson-Forssman-Lehmann syndrome
Brunner Syndrome
CD40 ligand deficiency
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
Christianson syndrome
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
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
deafness-intellectual disability, Martin-Probst type syndrome
Dent disease +
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy
ectodermal dysplasia 1
ectodermal dysplasia and immunodeficiency 1
factor VIII deficiency
Fanconi anemia complementation group B
female-restricted syndromic X-linked intellectual disability 99
FG syndrome
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycogen storage disease IXa
glycogen storage disease IXd
glycogen storage disease VIII
hemophilia B
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
Holoprosencephaly 13, X-linked
HRPT-related hyperuricemia
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
isolated growth hormone deficiency type III
Joubert syndrome 10
Keipert syndrome
Kennedy's disease
Lesch-Nyhan syndrome
MASA syndrome
megalocornea
MEHMO syndrome
MEHMO syndrome
MEND syndrome
methylmalonic acidemia and homocysteinemia cblX type
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
Miles-Carpenter syndrome
Mullegama-Klein-Martinez syndrome
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
partial androgen insensitivity syndrome
Partington syndrome
Partington syndrome
Pelizaeus-Merzbacher disease
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Prieto syndrome
Prieto syndrome
primary ovarian insufficiency 2B
Raynaud-Claes syndrome
Renpenning syndrome
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
Stocco Dos Santos type X-linked intellectual disability
syndactyly type 8
syndromic X-linked intellectual developmental disorder bain type
syndromic X-linked intellectual disability 12
syndromic X-linked intellectual disability 14
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 34
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 5
syndromic X-linked intellectual disability 7
syndromic X-linked intellectual disability 94
syndromic X-linked intellectual disability Abidi type
syndromic X-linked intellectual disability Cabezas type
syndromic X-linked intellectual disability Chudley-Schwartz type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Claes-Jensen type
syndromic X-linked intellectual disability Hedera type
syndromic X-linked intellectual disability Lubs type
syndromic X-linked intellectual disability Najm type
syndromic X-linked intellectual disability Nascimento type
syndromic X-linked intellectual disability Pilorge type
syndromic X-linked intellectual disability Raymond type
syndromic X-linked intellectual disability Shashi type
syndromic X-linked intellectual disability Shrimpton type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Siderius type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Snyder type
syndromic X-linked intellectual disability Turner type
syndromic X-linked intellectual disability type 10
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked intellectual disorder Lujan-Fryns-type
syndromic X-linked mental retardation 35
syndromic X-linked mental retardation 35
syndromic X-linked mental retardation Hough type
Tonne-Kalscheuer syndrome
Van Esch-O'Driscoll syndrome
Van Esch-O'Driscoll syndrome
Waisman syndrome
Wilson-Turner syndrome
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 108
X-linked intellectual developmental disorder 109
X-linked intellectual developmental disorder 109
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
X-linked intellectual disability-short stature-overweight syndrome
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 mental retardation Gustavson type
X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance
X-linked mental retardation-hypotonic facies syndrome-1
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 spermatogenic failure 7
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
Child term(s)

is-a denotes an 'is-a' relationship