| Parent Terms |
Term With Siblings |
Child Terms |
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2-hydroxyglutaric aciduria +
3q27.3 microdeletion syndrome
7p22.1 microduplication syndrome
9p13 microdeletion syndrome
9q31.1q31.3 microdeletion syndrome
ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
adult-onset nemaline myopathy
advanced sleep phase syndrome
ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
ATP1A3-associated neurological disorder +
autism spectrum disorder due to AUTS2 deficiency
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
autosomal recessive non-syndromic intellectual disability +
B4GALT1-congenital disorder of glycosylation
Bailey-Bloch congenital myopathy
benign familial infantile epilepsy +
benign paroxysmal tonic upgaze of childhood with ataxia
bilateral frontoparietal polymicrogyria
bilateral generalized polymicrogyria
bilateral parasagittal parieto-occipital polymicrogyria
bilateral striopallidodentate calcinosis +
bilirubin encephalopathy +
biotin-responsive basal ganglia disease
Bosch-Boonstra-Schaaf optic atrophy syndrome
brain-lung-thyroid syndrome
cardiac anomalies - developmental delay - facial dysmorphism syndrome
central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease
cerebral amyloid angiopathy +
cerebral lipidosis with dementia +
Chiari malformation type I
Chiari malformation type II
childhood apraxia of speech
childhood onset GLUT1 deficiency syndrome 2
childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
childhood-onset nemaline myopathy +
chromosome 2p16.3 deletion syndrome
chronic diarrhea due to glucoamylase deficiency
chronic inflammatory demyelinating polyneuropathy
cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome
coloboma of optic nerve +
combined pituitary hormone deficiencies, genetic form +
complex cortical dysplasia with other brain malformations +
congenital dyserythropoietic anemia +
congenital hydrocephalus +
congenital lactase deficiency
congenital nonspherocytic hemolytic anemia +
congenital stationary night blindness +
congenital sucrase-isomaltase deficiency +
craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
dehydrated hereditary stomatocytosis +
dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema
diarrhea-vomiting due to trehalase deficiency
dilated cardiomyopathy 3B
Duane retraction syndrome +
DYRK1A-related intellectual disability syndrome +
dyskinesia with orofacial involvement, autosomal dominant
encephalopathy due to mitochondrial and peroxisomal fission defect +
encephalopathy, acute, infection-induced +
epilepsy, familial adult myoclonic +
epilepsy, X-linked, with or without impaired intellectual development and dysmorphic features +
exercise-induced hyperinsulinism
familial congenital mirror movements +
familial congenital palsy of trochlear nerve
familial hemiplegic migraine +
familial hemophagocytic lymphohistiocytosis type 1
familial hyperprolactinemia
familial infantile myoclonic epilepsy
familial isolated pituitary adenoma +
familial partial epilepsy +
familial periodic paralysis +
familial pseudohyperkalemia
familial pterygium of the conjunctiva
familial retinal arterial macroaneurysm
famililal cerebral cavernous malformations +
folinic acid-responsive seizures
free sialic acid storage disease, infantile form
Gerstmann-Straussler-Scheinker syndrome
glucose transport disorder +
GLUT1 deficiency syndrome +
glutaryl-CoA dehydrogenase deficiency
glycogen storage disease due to aldolase A deficiency
glycogen storage disease VII
Griscelli syndrome type 1
hemolytic anemia due to adenylate kinase deficiency
hemolytic anemia due to diphosphoglycerate mutase deficiency
hemolytic anemia due to erythrocyte adenosine deaminase overproduction
hemolytic anemia due to glutathione reductase deficiency
hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
hereditary cryohydrocytosis with reduced stomatin
hereditary generalized epilepsy +
hereditary hyperekplexia +
hereditary neuromuscular disease +
hereditary retinoblastoma
hereditary spherocytosis +
Hogue-Janssens syndrome 1
Hoyeraal-Hreidarsson syndrome
HSD10 mitochondrial disease +
hypermanganesemia with dystonia 2
inborn aminoacylase deficiency +
infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
inherited neurodegenerative disorder +
inherited orthostatic hypotension +
inherited reflex epilepsy +
inherited retinal dystrophy +
inherited vitreoretinopathy +
intellectual developmental disorder and retinitis pigmentosa
intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies
intellectual developmental disorder with gastrointestinal difficulties and high pain threshold
intellectual developmental disorder with neuropsychiatric features
intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities
intellectual developmental disorder, autosomal recessive 71
intellectual disability, autosomal dominant +
intellectual disability, autosomal recessive 53
intellectual disability, Buenos-Aires type
intellectual disability, Wolff type
intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome
intellectual disability-hypotonia-spasticity-sleep disorder syndrome
intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome
intellectual disability-severe speech delay-mild dysmorphism syndrome
intellectual disability-sparse hair-brachydactyly syndrome
intermediate severe Salla disease
intracranial berry aneurysm +
isolated cerebellar hypoplasia/agenesis
isolated hereditary congenital facial paralysis
Johanson-Blizzard syndrome
juvenile cataract-microcornea-renal glucosuria syndrome
Landau-Kleffner syndrome +
lateral meningocele syndrome
lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
leukoencephalopathy, megalencephalic +
linear nevus sebaceous syndrome
lissencephaly spectrum disorders +
macrocephaly/megalencephaly syndrome, autosomal recessive
megalencephaly-capillary malformation-polymicrogyria syndrome
megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome +
Mendelian neurodevelopmental disorder +
microangiopathy and leukoencephalopathy, pontine, autosomal dominant
microcephaly-complex motor and sensory axonal neuropathy syndrome
micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
mismatch repair cancer syndrome 1
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
multiple pterygium-malignant hyperthermia syndrome
myopathy caused by variation in POMGNT1 +
myopathy due to calsequestrin and SERCA1 protein overload
myopic macular degeneration
neurocutaneous melanocytosis
neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
neurohypophyseal diabetes insipidus
nevoid basal cell carcinoma syndrome
noise-induced hearing loss
non-spherocytic hemolytic anemia due to hexokinase deficiency
nonsyndromic genetic hearing loss +
normal pressure hydrocephalus
NPHP3-related Meckel-like syndrome
obsessive-compulsive disorder
occipital pachygyria and polymicrogyria
oculocerebrocutaneous syndrome
orofaciodigital syndrome type 6
overhydrated hereditary stomatocytosis
parkinsonism with polyneuropathy
paroxysmal extreme pain disorder
PAX6-related ocular dysgenesis +
periventricular nodular heterotopia +
permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
phakomatosis pigmentokeratotica
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
polyhydramnios, megalencephaly, and symptomatic epilepsy
pontocerebellar hypoplasia +
PPP2R1A-related intellectual disability
Prader-Willi-like syndrome +
progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
progressive external ophthalmoplegia +
progressive myoclonus epilepsy +
proximal myopathy with extrapyramidal signs
PRRT2-associated paroxysmal movement disorder +
pyridoxal phosphate-responsive seizures
pyridoxine-dependent epilepsy +
qualitative or quantitative defects of alpha-sarcoglycan +
qualitative or quantitative defects of beta-myosin heavy chain (MYH7) +
qualitative or quantitative defects of beta-sarcoglycan +
qualitative or quantitative defects of delta-sarcoglycan +
qualitative or quantitative defects of desmin +
qualitative or quantitative defects of dysferlin +
qualitative or quantitative defects of gamma-sarcoglycan +
qualitative or quantitative defects of perlecan +
qualitative or quantitative defects of plectin +
qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan +
qualitative or quantitative defects of telethonin +
qualitative or quantitative defects of TRIM32 +
red-green color blindness
renal tubular acidosis, distal, 4, with hemolytic anemia
rhabdoid tumor predisposition syndrome 2
Ritscher-Schinzel syndrome +
rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Rubinstein-Taybi syndrome +
sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
SATB2 associated disorder +
Schinzel-Giedion syndrome
Schuurs-Hoeijmakers syndrome
SERAC1-related neurological disorder +
SETD2-related neurodevelopmental disorder without or with macrocephaly/overgrowth +
severe congenital nemaline myopathy +
severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
severe intellectual disability-progressive spastic diplegia syndrome
severe neonatal-onset encephalopathy with microcephaly
short stature-brachydactyly-obesity-global developmental delay syndrome
SIN3A-related intellectual disability syndrome
SLC6A3-related dopamine transporter deficiency syndrome +
southeast Asian ovalocytosis
SPAST-related motor disorder +
spastic quadriplegic cerebral palsy +
specific language impairment +
SYNGAP1-related developmental and epileptic encephalopathy
TH-deficient dopa-responsive dystonia
triosephosphate isomerase deficiency
TUBB3-related tubulinopathy +
typical nemaline myopathy +
undetermined early-onset epileptic encephalopathy +
X-linked immunoneurologic disorder
X-linked intellectual disability +
X-linked syndromic intellectual disability +
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| Synonyms |
| Exact Synonyms: |
ChC type 2
;
hereditary cryohydrocytosis type 2
;
sdCHC
;
stomatin-deficient cryohydrocytosis
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| Related Synonyms: |
GLUT1 deficiency syndrome with pseudohyperkalemia and hemolysis
;
SDCHCN
;
cryohydrocytosis, stomatin-deficient, with intellectual disability, seizures, cataracts, and massive hepatosplenomegaly
;
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
;
stomatin-deficient cryohydrocytosis with neurologic defects
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| Alternate IDs: |
MONDO:0012143
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| Xrefs: |
GARD:17036
;
MEDGEN:332390
;
MESH:C563840
;
MIM:608885
;
ORDO:168577
;
UMLS:C1837206
;
icd11.foundation:1459095719 |
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