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Term With Siblings |
Child Terms |
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Achondroplasia and Swiss Type Agammaglobulinemia
adenosine deaminase deficiency
Agammaglobulinemia, Microcephaly, and Severe Dermatitis
Agammaglobulinemia, non-Bruton type
Agammaglobulinemia, Non-Bruton Type, Autosomal Dominant
Allan-Herndon-Dudley syndrome
AUTOINFLAMMATORY SYNDROME, FAMILIAL, X-LINKED, BEHCET-LIKE 2
autosomal recessive osteopetrosis 7
Borjeson-Forssman-Lehmann syndrome
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA
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
combined oxidative phosphorylation deficiency 6
Combined Pituitary Hormone Deficiency, 2
Combined Pituitary Hormone Deficiency, 3
common variable immunodeficiency +
congenital disorder of glycosylation Icc
congenital disorder of glycosylation Iy
congenital nongoitrous hypothyroidism 9
congenital stationary night blindness 1A
congenital stationary night blindness 2A
developmental and epileptic encephalopathy 1
developmental and epileptic encephalopathy 8
Diamond-Blackfan anemia 14 with mandibulofacial dysostosis
Duchenne muscular dystrophy +
Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration
Fanconi anemia complementation group B
frontometaphyseal dysplasia 1
Galloway-Mowat syndrome 2
glycogen storage disease IXA
glycogen storage disease IXD
glycogen storage disease VIII
hereditary sensory neuropathy X-linked
hereditary spastic paraplegia 16
hereditary spastic paraplegia 2
hereditary spastic paraplegia 34
HRPT-related hyperuricemia
hypogonadotropic hypogonadism 1 with or without anosmia
ichthyosis follicularis-alopecia-photophobia syndrome 1
Idiopathic Short Stature, Autosomal
IGSF1 deficiency syndrome
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
IMMUNODEFICIENCY 100 WITH PULMONARY ALVEOLAR PROTEINOSIS AND HYPOGAMMAGLOBULINEMIA
isolated growth hormone deficiency type IA
isolated growth hormone deficiency type IB
isolated growth hormone deficiency type II
isolated growth hormone deficiency type III An isolated growth hormone deficiency characterized by dwarfism, variable occurence of hypogammaglobulinemia, and a generally good response to growth hormone therapy that has_material_basis_in mutation in the BTK gene on chromosome Xq22.1. (DO)
Isolated Growth Hormone Deficiency Type V
Isolated Growth Hormone Deficiency, Partial
Leukoencephalopathy, Arthritis, Colitis, and Hypogammaglobulinemia
methylmalonic acidemia and homocysteinemia cblX type
Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis
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
nuclear type mitochondrial complex I deficiency 12
nuclear type mitochondrial complex I deficiency 30
oculocerebrorenal syndrome +
orofaciodigital syndrome VIII
osteogenesis imperfecta type 19
partial androgen insensitivity syndrome
Pelizaeus-Merzbacher disease +
phosphoglycerate kinase 1 deficiency
phosphoribosylpyrophosphate synthetase superactivity
Pituitary Dwarfism with Large Sella Turcica
primary ovarian insufficiency 2B
Ritscher-Schinzel syndrome 2
Say Barber Miller Syndrome
severe congenital encephalopathy due to MECP2 mutation
Simpson-Golabi-Behmel syndrome type 1
Simpson-Golabi-Behmel syndrome type 2
spastic paraplegia with deafness
syndromic X-linked intellectual disability 17
syndromic X-linked intellectual disability 35
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 disability Turner type
syndromic X-linked intellectual disorder Lujan-Fryns-type
transient hypogammaglobulinemia +
Van Esch-O'Driscoll 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 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 Hypogammaglobulinemia
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 Mental Retardation with Isolated Growth Hormone Deficiency
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
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| Synonyms |
| Exact Synonyms: |
Agammaglobulinemia and isolated growth hormone deficiency, X-linked
;
Fleisher syndrome
;
Growth Hormone Deficiency with Hypogammaglobulinemia
;
Hypogammaglobulinemia and Isolated Growth Hormone Deficiency, X-Linked
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IGHD III
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IGHD3
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Isolated growth hormone deficiency, type 3
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Nanism due to growth hormone isolated deficiency with X-linked hypogammaglobulinemia
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X-LINKED AGAMMAGLOBULINEMIA WITH GROWTH HORMONE DEFICIENCY
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X-linked IGHD
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X-linked isolated growth hormone deficiency
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congenital IGHD type III
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congenital isolated GH deficiency type III
;
congenital isolated growth hormone deficiency type III
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| Primary IDs: |
MESH:C537149
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| Alternate IDs: |
OMIM:307200
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RDO:0002930
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| Xrefs: |
GARD:3921
;
ORDO:231692
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| Definition Sources: |
https://www.ncbi.nlm.nih.gov/pubmed/8013627 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/8288694 "DO" "DO" |
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