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46,XX disorder of sex development-anorectal anomalies syndrome
46,XY complete gonadal dysgenesis +
6q terminal deletion syndrome
8p23.1 microdeletion syndrome
abdominal obesity-metabolic syndrome +
ablepharon macrostomia syndrome
Abruzzo-Erickson syndrome
achalasia microcephaly syndrome
achalasia-alacrima syndrome
acrofrontofacionasal dysostosis 2
acromesomelic dysplasia 2B
acrorenal syndrome, autosomal recessive
acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
acute respiratory distress syndrome +
Aicardi-Goutieres syndrome +
Alkuraya-Kucinskas syndrome
alopecia - intellectual disability syndrome
alopecia-epilepsy-pyorrhea-intellectual disability syndrome
alpha 1-antitrypsin deficiency
alpha thalassemia-intellectual disability syndrome type 1
alpha-thalassemia-myelodysplastic syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
amelogenesis imperfecta type 1G
angioosteohypertrophic syndrome
angioosteohypotrophic syndrome
aniridia - intellectual disability syndrome
aniridia-absent patella syndrome
aniridia-cerebellar ataxia-intellectual disability syndrome
aniridia-ptosis-intellectual disability-familial obesity syndrome
aniridia-renal agenesis-psychomotor retardation syndrome
ankyloblepharon filiforme adnatum-cleft palate syndrome
ankyloblepharon filiforme-imperforate anus syndrome
anophthalmia plus syndrome
anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
anterior segment dysgenesis +
anterior spinal artery syndrome
antiphospholipid syndrome
aplasia cutis congenita-intestinal lymphangiectasia syndrome
aplasia of lacrimal and salivary glands
arachnodactyly-intellectual disability-dysmorphism syndrome
arthrogryposis-renal dysfunction-cholestasis syndrome +
ataxia - telangiectasia variant
atresia of small intestine
atrial septal defect, coronary sinus type
atrioventricular defect-blepharophimosis-radial and anal defect syndrome
atypical hemolytic-uremic syndrome +
auditory neuropathy-optic atrophy syndrome
autism-facial port-wine stain syndrome
autoimmune disorder of blood +
autoimmune polyendocrinopathy +
autoinflammatory syndrome +
autosomal dominant cataract
autosomal dominant chondrodysplasia punctata +
autosomal dominant deafness - onychodystrophy syndrome
autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome
autosomal recessive Alport syndrome
autosomal recessive amelia
autosomal recessive brachyolmia +
autosomal recessive cerebellar ataxia +
autosomal recessive cerebral atrophy
autosomal recessive complex spastic paraplegia
autosomal recessive cutis laxa type 1 +
autosomal recessive cutis laxa type 2 +
autosomal recessive distal renal tubular acidosis +
autosomal recessive Ehlers-Danlos syndrome, vascular type
autosomal recessive Emery-Dreifuss muscular dystrophy
autosomal recessive epidermolytic ichthyosis
autosomal recessive faciodigitogenital syndrome
autosomal recessive familial Mediterranean fever
autosomal recessive frontotemporal pachygyria
autosomal recessive hereditary demyelinating motor and sensory neuropathy
autosomal recessive humeroradial synostosis
autosomal recessive hypohidrotic ectodermal dysplasia
autosomal recessive hypophosphatemic rickets +
autosomal recessive inherited pseudoxanthoma elasticum
autosomal recessive intermediate Charcot-Marie-Tooth disease +
autosomal recessive Kenny-Caffey syndrome
autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
autosomal recessive limb-girdle muscular dystrophy +
autosomal recessive multiple pterygium syndrome +
autosomal recessive non-syndromic intellectual disability +
autosomal recessive ocular albinism +
autosomal recessive omodysplasia
autosomal recessive optic atrophy
autosomal recessive osteopetrosis +
autosomal recessive palmoplantar keratoderma and congenital alopecia
autosomal recessive polycystic kidney disease
autosomal recessive primary microcephaly +
autosomal recessive progressive external ophthalmoplegia +
autosomal recessive proximal renal tubular acidosis
autosomal recessive Robinow syndrome
autosomal recessive severe congenital neutropenia +
autosomal recessive sideroblastic anemia +
autosomal recessive spastic ataxia +
autosomal recessive spastic paraplegia type 78
autosomal recessive spondylocostal dysostosis
autosomal recessive titinopathy +
Axenfeld-Rieger syndrome +
axial mesodermal dysplasia spectrum
B-cell immunodeficiency, distal limb anomalies, and urogenital malformations
Bamforth-Lazarus syndrome
Baraitser-Winter cerebrofrontofacial syndrome +
Basilicata-Akhtar syndrome
Berardinelli-Seip congenital lipodystrophy +
beta-ketothiolase deficiency
bifid nose, autosomal recessive
Birt-Hogg-Dube syndrome +
blepharophimosis - intellectual disability syndrome, SBBYS type
blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
blepharoptosis-cleft palate-ectrodactyly-dental anomalies syndrome
blood coagulation disease +
blood group incompatibility +
Bloom syndrome Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.
bone development disease +
Bonnemann-Meinecke-Reich syndrome
brachydactyly-arterial hypertension syndrome
brachydactyly-nystagmus-cerebellar ataxia syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
brachytelephalangy-dysmorphism-Kallmann syndrome
brain abnormalities, neurodegeneration, and dysosteosclerosis
branched-chain keto acid dehydrogenase kinase deficiency
branchio-oto-renal syndrome
bronchopulmonary dysplasia
Buschke-Ollendorff syndrome
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Camurati-Engelmann disease
cardiac valvular defect, developmental
Cardiac-urogenital syndrome
cardioectodermal syndrome +
cardiomyopathy-cataract-hip spine disease syndrome
cardiomyopathy-hypotonia-lactic acidosis syndrome
cartilage-hair hypoplasia +
cataract - congenital heart disease - neural tube defect syndrome
cataract - microcornea syndrome
cataract-deafness-hypogonadism syndrome
cataract-glaucoma syndrome
cataract-intellectual disability-anal atresia-urinary defects syndrome
cataract-nephropathy-encephalopathy syndrome
cataracts, hearing impairment, nephrotic syndrome, and enterocolitis +
caudal regression-sirenomelia spectrum +
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
central hypoventilation syndrome, late-onset
central nervous system calcification-deafness-tubular acidosis-anemia syndrome
central sleep apnea syndrome +
cerebellar ataxia, intellectual disability, and dysequilibrium +
cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy +
cerebral cortical dysplasia +
cerebrocostomandibular syndrome
Cerebrorenodigital syndrome
channelopathy-associated congenital insensitivity to pain, autosomal recessive
Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome
choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
chondrodysplasia-pseudohermaphroditism syndrome
chromosome 13q14 deletion syndrome
chromosome 16p12.1 deletion syndrome, 520kb
chromosome 18p deletion syndrome
chromosome 18q deletion syndrome
chromosome 1p36 deletion syndrome, proximal
chronic atrial and intestinal dysrhythmia
Chudley-McCullough syndrome
circumscribed cutaneous aplasia of the vertex
cleft lip-retinopathy syndrome
cleft lip/palate-deafness-sacral lipoma syndrome
cleft lip/palate-ectodermal dysplasia syndrome +
cleft palate-stapes fixation-oligodontia syndrome
cleidocranial dysplasia 1
cleidorhizomelic syndrome
cochleosaccular degeneration-cataract syndrome
COG1-congenital disorder of glycosylation
COG5-congenital disorder of glycosylation
complex cortical dysplasia with other brain malformations +
complex hereditary spastic paraplegia +
congenital anomaly of cardiovascular system +
congenital bilateral absence of vas deferens +
congenital cataract-ichthyosis syndrome
congenital deformities of limbs +
congenital elbow dislocation +
congenital esophageal diverticulum
congenital hematological disorder +
congenital hereditary facial paralysis-variable hearing loss syndrome
congenital hydrocephalus +
congenital ichthyosis-microcephalus-tetraplegia syndrome
congenital knee dislocation +
congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome
congenital myasthenic syndrome +
congenital non-bullous ichthyosiform erythroderma
congenital patella dislocation +
congenital primary megaureter +
congenital prothrombin deficiency
congenital short bowel syndrome +
congenital shoulder dislocation
congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
congenital tricuspid malformation +
congenital vertebral-cardiac-renal anomalies syndrome +
corneal dystrophy-perceptive deafness syndrome
corneal-cerebellar syndrome
Cornelia de Lange syndrome
corpus callosum agenesis-abnormal genitalia syndrome
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
cortical blindness-intellectual disability-polydactyly syndrome
cortical dysplasia-focal epilepsy syndrome
corticobasal degeneration disorder
craniodiaphyseal dysplasia
craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome
craniofacial dysplasia - osteopenia syndrome
craniofacial dyssynostosis
craniofrontonasal syndrome
craniometaphyseal dysplasia, autosomal recessive
craniosynostosis syndrome, autosomal recessive +
Crigler-Najjar syndrome +
cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
cystic fibrosis-gastritis-megaloblastic anemia syndrome
dacryocystitis-osteopoikilosis syndrome
de Sanctis-Cacchione syndrome
deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
deafness-hypogonadism syndrome
deafness-infertility syndrome
deafness-intellectual disability, Martin-Probst type syndrome
deafness-lymphedema-leukemia syndrome
deafness-oligodontia syndrome
dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
dermochondrocorneal dystrophy
developmental and speech delay due to SOX5 deficiency
developmental defect during embryogenesis +
diabetes, deafness, developmental delay, and short stature syndrome
diaphragmatic defect-limb deficiency-skull defect syndrome
DICER1-related tumor predisposition +
diencephalic-mesencephalic junction dysplasia
diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
digital anomalies-intellectual disability-short stature syndrome
dilated cardiomyopathy 1A
dilated cardiomyopathy 1E
disappearing bone disease +
diverticulosis of bowel, hernia, and retinal detachment
DK1-congenital disorder of glycosylation
double uterus-hemivagina-renal agenesis syndrome
Duane retraction syndrome +
Duane-radial ray syndrome +
duplication of the pituitary gland
duplication/inversion 15q11
Dyggve-Melchior-Clausen disease +
dyschondrosteosis-nephritis syndrome
dyskeratosis congenita, autosomal recessive 5
dyssegmental dysplasia-glaucoma syndrome
ectodermal dysplasia syndrome +
ectrodactyly-polydactyly syndrome
Ehlers-Danlos syndrome, classic-like, 2
Ehlers-Danlos syndrome, kyphoscoliotic type 1
Ellis-van Creveld syndrome
enlarged vestibular aqueduct syndrome
eosinophil peroxidase deficiency
epibulbar lipodermoid-preauricular appendage-polythelia syndrome
epidermolysis bullosa simplex 5B, with muscular dystrophy
epiphyseal dysplasia-hearing loss-dysmorphism syndrome
eyebrow duplication-syndactyly syndrome
faciodigitogenital syndrome +
familial adenomatous polyposis 2
familial bicuspid aortic valve
familial chylomicronemia syndrome +
familial episodic pain syndrome with predominantly lower limb involvement
familial infantile bilateral striatal necrosis
familial intestinal malrotation-facial anomalies syndrome
familial isolated clinodactyly of fingers
familial isolated congenital asplenia
familial long QT syndrome +
familial median cleft of the upper and lower lips
familial omphalocele syndrome with facial dysmorphism
familial osteodysplasia, Anderson type
familial partial lipodystrophy, Dunnigan type
familial primary pulmonary hypoplasia
familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Fanconi renotubular syndrome +
ferro-cerebro-cutaneous syndrome
fetal akinesia deformation sequence +
fetal enterovirus syndrome
fibromatosis multiple non ossifying
fibular aplasia-ectrodactyly syndrome
finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome
foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome
fragile X-associated tremor/ataxia syndrome
frontofacionasal dysplasia
Galloway-Mowat syndrome +
Gamstorp-Wohlfart syndrome
gastrointestinal ulceration, recurrent, with dysfunctional platelets
GATA1-Related X-Linked Cytopenia +
gingival fibromatosis-facial dysmorphism syndrome
gingival fibromatosis-progressive deafness syndrome
glaucoma-sleep apnea syndrome
global developmental delay with or without impaired intellectual development
global developmental delay, progressive ataxia, and elevated glutamine
global developmental delay-osteopenia-ectodermal defect syndrome
glycosylphosphatidylinositol biosynthesis defect 15
glycosylphosphatidylinositol biosynthesis defect 21
gnb5-related intellectual disability-cardiac arrhythmia syndrome
Goldberg-Shprintzen syndrome
Greig cephalopolysyndactyly syndrome
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
growth delay-hydrocephaly-lung hypoplasia syndrome
growth hormone insensitivity syndrome +
growth hormone insensitivity with immune dysregulation 1, autosomal recessive
growth retardation-mild developmental delay-chronic hepatitis syndrome
Grubben-de Cock-Borghgraef syndrome
GUCY2D-related recessive retinopathy +
Guillain-Barre syndrome +
hair defect with photosensitivity and intellectual disability syndrome
hand-foot-genital syndrome
hantavirus pulmonary syndrome
Hartsfield-Bixler-Demyer syndrome
hearing impairment and infertile male syndrome
hearing loss, autosomal recessive +
hearing loss-familial salivary gland insensitivity to aldosterone syndrome
heart defects-limb shortening syndrome
Hematological disorder with renal involvement +
hematopoietic and lymphoid system neoplasm +
hemophagocytic syndrome +
hepatic fibrosis-renal cysts-intellectual disability syndrome
hereditary benign intraepithelial dyskeratosis
hereditary cardiac anomaly +
hereditary continuous muscle fiber activity
hereditary gingival fibromatosis
hereditary lethal multiple congenital anomalies/dysmorphic syndrome +
hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
hereditary sensory and autonomic neuropathy with deafness and global delay
high anorectal malformation
high myopia-sensorineural deafness syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Hirschsprung disease-hearing loss-polydactyly syndrome
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-type D brachydactyly syndrome
holoprosencephaly-postaxial polydactyly syndrome
Holzgreve-Wagner-Rehder syndrome
homocystinuria without methylmalonic aciduria +
horizontal gaze palsy with progressive scoliosis
Houge-Janssens syndrome +
Hutchinson-Gilford progeria syndrome
hydrocephalus-blue sclerae-nephropathy syndrome
hydrocephalus-obesity-hypogonadism syndrome
hydrocephaly-cerebellar agenesis syndrome
hyper-IgM syndrome type 2
hypercalcemia, infantile +
Hypereosinophilic syndrome +
hypergonadotropic hypogonadism-cataract syndrome
hypermanganesemia with dystonia 2
hyperphenylalaninemia due to DNAJC12 deficiency
hyperphenylalaninemia due to tetrahydrobiopterin deficiency +
hypertelorism, microtia, facial clefting syndrome
hypertrichotic osteochondrodysplasia Cantu type
hypogonadism-mitral valve prolapse-intellectual disability syndrome
hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
hypohidrotic ectodermal dysplasia +
hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism
hypoparathyroidism-deafness-renal disease syndrome
hypoparathyroidism-retardation-dysmorphism syndrome
hypoplastic left heart syndrome +
hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome
hypospadias-intellectual disability, Goldblatt type syndrome
hypotonia-cystinuria syndrome +
hypotrichosis-deafness syndrome
hypotrichosis-intellectual disability, Lopes type
hypotrichosis-lymphedema-telangiectasia syndrome (grouping)
ichthyosis linearis circumflexa
ichthyosis prematurity syndrome
ichthyosis-cheek-eyebrow syndrome
ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ichthyosis-oral and digital anomalies syndrome
Imerslund-Grasbeck syndrome +
Imerslund-Grasbeck syndrome type 2
immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
immunodeficiency-centromeric instability-facial anomalies syndrome +
imperforate oropharynx-costo vetebral anomalies syndrome
IMPG1-related recessive retinopathy +
inclusion body myopathy with Paget disease of bone and frontotemporal dementia +
infantile convulsions and choreoathetosis
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inflammatory bowel disease, immunodeficiency, and encephalopathy
infundibulopelvic stenosis-multicystic kidney syndrome
intellectual developmental disorder with impaired language and dysmorphic facies
intellectual developmental disorder with macrocephaly, seizures, and speech delay
intellectual developmental disorder with short stature and behavioral abnormalities
intellectual developmental disorder with speech delay, autism and dysmorphic facies
intellectual developmental disorder, autosomal recessive 72
intellectual disability, autosomal dominant 29
intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
intellectual disability-cataracts-kyphosis syndrome
intellectual disability-epilepsy-extrapyramidal syndrome
intellectual disability-expressive aphasia-facial dysmorphism syndrome
intellectual disability-hypotonia-skin hyperpigmentation syndrome
intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome
intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
intellectual disability-strabismus syndrome
intermediate anorectal malformation
iridocorneal endothelial syndrome +
ischio-vertebral syndrome
isolated cerebellar hypoplasia/agenesis
isolated congenital digital clubbing
isolated hyperchlorhidrosis
Johanson-Blizzard syndrome
joint laxity, short stature, and myopia
Joubert syndrome with ocular defect
Joubert syndrome with oculorenal defect +
keratosis follicularis-dwarfism-cerebral atrophy syndrome
Landau-Kleffner syndrome +
laryngeal abductor paralysis-intellectual disability syndrome
laryngo-onycho-cutaneous syndrome
lateral medullary syndrome
left ventricular noncompaction +
left-right axis malformations
Lennox-Gastaut syndrome +
Lenz-Majewski hyperostotic dwarfism
lethal congenital contracture syndrome 1
lethal hemolytic anemia-genital anomalies syndrome
lethal multiple pterygium syndrome +
leukocyte adhesion deficiency +
leukoencephalopathy with calcifications and cysts
leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
leukoencephalopathy-palmoplantar keratoderma syndrome
lissencephaly spectrum disorders +
Long-Olsen-Distelmaier syndrome
Lopes-Maciel-Rodan syndrome
low anorectal malformation
lower limb deficiency-hypospadias syndrome
Lown-Ganong-Levine syndrome
lung agenesis-heart defect-thumb anomalies syndrome
lymphedema-atrial septal defects-facial changes syndrome
lymphedema-cerebral arteriovenous anomaly syndrome
lymphedema-distichiasis syndrome
macrocephaly-autism syndrome
macrocephaly-short stature-paraplegia syndrome
macrodactyly of fingers +
macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome
mandibulofacial dysostosis with alopecia
Marinesco-Sjogren syndrome
Mayer-Rokitansky-Kuster-Hauser syndrome +
megacystis-microcolon-intestinal hypoperistalsis syndrome +
megalencephaly-polydactyly syndrome
Melkersson-Rosenthal syndrome
Menke-Hennekam syndrome 1
Menke-Hennekam syndrome 2
mesomelic dwarfism-cleft palate-camptodactyly syndrome
metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
metaphyseal chondrodysplasia, Jansen type
metaphyseal chondrodysplasia-retinitis pigmentosa syndrome
metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
microcephalic osteodysplastic primordial dwarfism types I and III +
microcephalic primordial dwarfism due to RTTN deficiency +
microcephalic primordial dwarfism, Alazami type
microcephalic primordial dwarfism, Toriello type
microcephaly and chorioretinopathy 1
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
microcephaly, growth restriction, and increased sister chromatid exchange 2
microcephaly-brachydactyly-kyphoscoliosis syndrome
microcephaly-brain defect-spasticity-hypernatremia syndrome
microcephaly-capillary malformation syndrome
microcephaly-complex motor and sensory axonal neuropathy syndrome
microcephaly-microcornea syndrome, Seemanova type
microcephaly-polymicrogyria-corpus callosum agenesis syndrome
microlissencephaly-micromelia syndrome
microphthalmia with limb anomalies
microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Mikati-Najjar-Sahli syndrome
Miller-Dieker lissencephaly syndrome
mirror polydactyly-vertebral segmentation-limbs defects syndrome
mitochondrial DNA depletion syndrome 4a
mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
mitochondrial neurogastrointestinal encephalomyopathy
mitochondrial pyruvate carrier deficiency
Morgagni-Stewart-Morel syndrome
mosaic variegated aneuploidy syndrome +
motor developmental delay due to 14q32.2 paternally expressed gene defect +
MPI-congenital disorder of glycosylation
mucopolysaccharidosis type 2 +
mucopolysaccharidosis type 3 +
mucopolysaccharidosis type 4 +
mucopolysaccharidosis type 6 +
mullerian derivatives-lymphangiectasia-polydactyly syndrome
mullerian duct anomalies-limb anomalies syndrome
multicystic dysplastic kidney +
multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
multiple intestinal atresia
multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
multiple synostoses syndrome +
muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
muscular pseudohypertrophy-hypothyroidism syndrome
myoclonic-astatic epilepsy
myopathy, congenital, progressive, with scoliosis
myopathy-growth delay-intellectual disability-hypospadias syndrome
myotonia congenita, autosomal recessive
NAD(P)HX dehydratase deficiency
Nager acrofacial dysostosis
nasopalpebral lipoma-coloboma syndrome
natal teeth-intestinal pseudoobstruction-patent ductus syndrome
neonatal aspiration syndrome +
neonatal ichthyosis-sclerosing cholangitis syndrome
nephrogenic diabetes insipidus-intracranial calcification syndrome
nephropathic cystinosis +
nephropathy - deafness - hyperparathyroidism syndrome
nephrosis-deafness-urinary tract-digital malformations syndrome
Nestor-Guillermo progeria syndrome
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
neurodegeneration, childhood-onset, with cerebellar atrophy
neurodevelopmental disorder with absent language and variable seizures
neurodevelopmental disorder with ataxia, hypotonia, and microcephaly
neurodevelopmental disorder with behavioral abnormalities, absent speech, and hypotonia
neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies
neurodevelopmental disorder with cerebellar hypoplasia and spasticity
neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies
neurodevelopmental disorder with macrocephaly and with or without seizures
neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
neurodevelopmental disorder with non-specific brain abnormalities and with or without seizures
neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures
neurodevelopmental disorder with seizures and non-epileptic hyperkinetic movements
neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
neuroleptic malignant syndrome
neuronopathy, distal hereditary motor, autosomal recessive +
neurooculocardiogenitourinary syndrome
Niemann-Pick disease type A
Niemann-Pick disease type B
Niemann-Pick disease type C +
Nijmegen breakage syndrome
NKX2-1 related choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction +
nodular neuronal heterotopia +
non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Noonan syndrome and Noonan-related syndrome +
Noonan syndrome with multiple lentigines
O'Donnell-Luria-Rodan syndrome
obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
obstructive sleep apnea +
oculo-skeletal-renal syndrome
oculocerebral hypopigmentation syndrome, Cross type
oculocerebrodental syndrome
oculocerebrofacial syndrome, Kaufman type
oculocerebrorenal syndrome
oculodental syndrome, Rutherfurd type
oculodentodigital dysplasia, autosomal recessive
oculogastrointestinal-neurodevelopmental syndrome
oculomaxillofacial dysostosis +
odonto-onycho-dermal dysplasia
odontomatosis-aortae esophagus stenosis syndrome
olivopontocerebellar atrophy-deafness syndrome
optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
ornithine translocase deficiency
orofaciodigital syndrome I
oromandibular-limb anomalies syndrome +
osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome
osteopenia-intellectual disability-sparse hair syndrome
osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome
osteoporosis-pseudoglioma syndrome
osteosclerosis-ichthyosis-premature ovarian failure syndrome
otofaciocervical syndrome
otopalatodigital syndrome type 1
Pallister-Hall syndrome +
palmoplantar keratoderma-esophageal carcinoma syndrome
palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome +
palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Parana hard-skin syndrome
paraneoplastic hematological syndrome +
paraneoplastic syndrome +
paraplegia-intellectual disability-hyperkeratosis syndrome
parkinsonism-dystonia, infantile +
peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
penoscrotal transposition
pericardial and diaphragmatic defect
peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
permanent neonatal diabetes mellitus 1
peroxisome biogenesis disorder +
persistent hyperplastic primary vitreous, autosomal recessive
pili torti-developmental delay-neurological abnormalities syndrome
pituitary stalk interruption syndrome
PMP22-RAI1 contiguous gene duplication syndrome
polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
polycystic ovary syndrome
polydactyly-macrocephaly syndrome
polydactyly-myopia syndrome
polyendocrine-polyneuropathy syndrome
polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
porencephaly-microcephaly-bilateral congenital cataract syndrome
post-infectious syndrome +
postaxial acrofacial dysostosis
postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
postaxial polydactyly-dental and vertebral anomalies syndrome
posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
premalignant hematological system disease +
primary basilar invagination
primary ciliary dyskinesia +
primary hypergonadotropic hypogonadism-partial alopecia syndrome
primary hypertrophic osteoarthropathy +
primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
progeria-short stature-pigmented nevi syndrome
progeroid features-hepatocellular carcinoma predisposition syndrome
progressive cerebello-cerebral atrophy
progressive familial intrahepatic cholestasis +
progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
progressive supranuclear palsy +
PROM1-related recessive retinopathy +
proteosome-associated autoinflammatory syndrome +
proximal tubulopathy-diabetes mellitus-cerebellar ataxia syndrome
pseudohypoaldosteronism, type IB2, autosomal recessive
ptosis-strabismus-ectopic pupils syndrome
ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ptosis-vocal cord paralysis syndrome
Rabson-Mendenhall syndrome
radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
radioulnar synostosis-microcephaly-scoliosis syndrome
Rajab interstitial lung disease with brain calcifications 1
Rare genetic hematologic disease +
recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
reflex sympathetic dystrophy
renal cysts and diabetes syndrome
renal tubular dysgenesis of genetic origin
retinal dystrophy with leukodystrophy
retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome
Reunion island Larsen syndrome
ring chromosome disorder +
RNU4ATAC spectrum disorder +
Roberts-SC phocomelia syndrome
Rothmund-Thomson syndrome +
RPE65-related recessive retinopathy +
Rubinstein Taybi like syndrome
Say-Barber-Miller syndrome
scalp defects-postaxial polydactyly syndrome
SchC6pf-Schulz-Passarge syndrome
Schmid metaphyseal chondrodysplasia
Schwartz-Jampel syndrome +
SCN4A-related myopathy, autosomal recessive +
severe combined immunodeficiency due to CARMIL2 deficiency
severe dermatitis-multiple allergies-metabolic wasting syndrome
severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
short fifth metacarpals-insulin resistance syndrome
short rib-polydactyly syndrome +
short stature and microcephaly with genital anomalies
short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
shoulder and girdle defects-familial intellectual disability syndrome
Shwachman-Diamond syndrome
sickle cell-beta-thalassemia disease syndrome
sickle cell-hemoglobin c disease syndrome
sickle cell-hemoglobin d disease syndrome
sickle cell-hemoglobin E disease syndrome
Silver-Russell syndrome +
Simpson-Golabi-Behmel syndrome +
skeletal dysplasia-epilepsy-short stature syndrome
skin fragility-woolly hair-palmoplantar keratoderma syndrome
Skraban-Deardorff syndrome
Snijders Blok-Campeau syndrome
Snijders Blok-Fisher syndrome
spastic ataxia-corneal dystrophy syndrome
spastic tetraplegia and axial hypotonia, progressive
spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
spina bifida-hypospadias syndrome
spondylocostal dysostosis-anal and genitourinary malformations syndrome
spondylocostal dysostosis-hypospadias-intellectual disability syndrome
spondyloepiphyseal dysplasia tarda, autosomal recessive
Stankiewicz-Isidor syndrome
steatocystoma multiplex-natal teeth syndrome
steroid dehydrogenase deficiency-dental anomalies syndrome
subaortic stenosis-short stature syndrome
subclavian steal syndrome
subcortical band heterotopia +
substance withdrawal syndrome +
syndactyly-polydactyly-ear lobe syndrome
syndactyly-telecanthus-anogenital and renal malformations syndrome
syndrome caused by partial chromosomal deletion +
syndrome caused by partial chromosomal duplication +
syndromic agammaglobulinemia +
syndromic congenital sodium diarrhea
syndromic craniosynostosis +
syndromic intellectual disability +
syndromic microphthalmia +
syndromic oculocutaneous albinism +
syndromic orbital border hypoplasia
syndromic retinitis pigmentosa
syngnathia multiple anomalies
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
tall stature-scoliosis-macrodactyly of the great toes syndrome
temtamy preaxial brachydactyly syndrome
tethered spinal cord syndrome
TH-deficient dopa-responsive dystonia
thiamine-responsive megaloblastic anemia syndrome
thoracic outlet syndrome +
thoraco-abdominal enteric duplication
thrombocytopenia-absent radius syndrome
thumb deformity-alopecia-pigmentation anomaly syndrome
thyrocerebrorenal syndrome
torticollis-keloids-cryptorchidism-renal dysplasia syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Treacher-Collins syndrome +
trigonocephaly-short stature-developmental delay syndrome
tubular renal disease-cardiomyopathy syndrome
ulnar hypoplasia-split foot syndrome
umbilical cord ulceration-intestinal atresia syndrome
VACTERL with hydrocephalus +
VACTERL/vater association +
Waterhouse-Friderichsen syndrome
Weill-Marchesani syndrome +
Wernicke-Korsakoff syndrome
white matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Wiedemann-Rautenstrauch syndrome
Wolcott-Rallison syndrome
wooly hair-hypotrichosis-everted lower lip-outstanding ears syndrome
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked ichthyosis syndrome +
X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome
X-linked lissencephaly with abnormal genitalia
X-linked mandibulofacial dysostosis
X-linked spasticity-intellectual disability-epilepsy syndrome
xeroderma pigmentosum-Cockayne syndrome complex +
xerosis and growth failure with immune and pulmonary dysfunction syndrome
Yuksel-Vogel-Bauer syndrome
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|
 |
| Synonyms |
| Exact Synonyms: |
BSyn
;
Bloom-Torre-Machacek syndrome
;
DOID:2717
;
NCIT:C2903
;
Orphanet:125
;
congenital telangiectatic erythema syndrome
;
http://identifiers.org/medgen/2685
;
http://identifiers.org/mesh/D001816
;
http://identifiers.org/snomedct/4434006
;
http://linkedlifedata.com/resource/umls/id/C0005859
|
| Synonyms: |
http://purl.bioontology.org/ontology/ICD10CM/Q82.2
|
| Related Synonyms: |
BLM
;
BLS
;
BS
;
MGRISCE1
;
congenital telangiectatic erythema
;
growth deficiency, sun-sensitive, telangiectatic, hypo and hyperpigmented skin, predisposition to malignancy and chromosomal instability
;
microcephaly, growth restriction, and increased sister chromatid exchange 1
|
| Alternate IDs: |
MONDO:0008876
|
| Xrefs: |
DOID:2717
;
GARD:915
;
ICD10CM:Q82.2
;
ICD9:757.39
;
MEDGEN:2685
;
MESH:D001816
;
MIM:210900
;
NANDO:1200333
;
NANDO:2200707
;
NCI:C2903
|
| see_also: |
https://rarediseases.info.nih.gov/diseases/915/bloom-syndrome" xsd:anyURI {source="GARD:0000915 |
| Definition Sources: |
Orphanet:125 |
|
