At a Glance
Pseudoxanthoma elasticum, forme fruste;
Abnormality of immune system physiology;
Abnormality of the dentition
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Pseudoxanthoma elasticum, forme fruste
Abnormality of immune system physiology
Abnormality of the dentition
Abnormality of the intervertebral disk
Acute kidney injury
Adducted thumb
Adult junctional epidermolysis bullosa
Age-related macular degeneration 1
Age-related macular degeneration 4
Alport syndrome 1, X-linked recessive
Alport syndrome 3, autosomal dominant
Alport syndrome, autosomal recessive
Alzheimer disease 2
Alzheimer disease, type 4
Aniridia 1
Arterial calcification of infancy
Asphyxiating thoracic dystrophy 4
Ataxia
Atypical hemolytic uremic syndrome
Atypical hemolytic-uremic syndrome 1
Basal laminar drusen
Benign familial hematuria
Camptodactyly
Camptodactyly of finger
Carbohydrate-deficient glycoprotein syndrome type I
Cataract
Cerebellar atrophy
Cerebral atrophy
Cerebral palsy, spastic quadriplegic, 2
Charcot-Marie-Tooth disease, dominant intermediate E
Chondrosarcoma
Chronic kidney disease
Coenzyme Q10 deficiency, primary 1
Coenzyme Q10 deficiency, primary, 3
Coenzyme Q10 deficiency, primary, 6
Cognitive impairment
Cole disease
Congenital disorder of glycosylation type 1K
Dandy-Walker syndrome
Deafness, autosomal dominant nonsyndromic sensorineural 17
Diabetes mellitus type 1
Diabetes mellitus type 2
Diffuse mesangial sclerosis
Donnai Barrow syndrome
Drash syndrome
Dystonia
EEG abnormality
Edema
Elevated hepatic transaminases
Elevated serum creatinine
Epicanthus
Epidermolysis bullosa junctionalis with pyloric atresia
Epidermolysis bullosa simplex, Cockayne-Touraine type
Epilepsy, progressive myoclonic 4, with or without renal failure
Factor H deficiency
Familial Mediterranean fever
Familial hypoplastic, glomerulocystic kidney
Familial juvenile gout
Familial mediterranean fever, autosomal dominant
Familial visceral amyloidosis, Ostertag type
Fanconi anemia, complementation group Q
Feeding difficulties
Finnish congenital nephrotic syndrome
Flat occiput
Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis 1
Focal segmental glomerulosclerosis 2
Focal segmental glomerulosclerosis 3, susceptibility to
Focal segmental glomerulosclerosis 4, susceptibility to
Focal segmental glomerulosclerosis 5
Focal segmental glomerulosclerosis 6
Frasier syndrome
Generalized arterial calcification of infancy 2
Global developmental delay
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
Glomerulopathy with fibronectin deposits 2
Glycosuria
Hand clenching
Hematuria
Hemiplegia/hemiparesis
Hemolytic anemia
Hemolytic uremic syndrome, atypical, susceptibility to
Hemolytic-uremic syndrome
Hereditary disease
Hiatal hernia
High palate
Hydrocephalus
Hydrocephalus due to congenital stenosis of aqueduct of Sylvius
Hyperapobetalipoproteinemia
Hyperlipoproteinemia, type I
Hypertelorism
Hypertonia
Hyperuricemic nephropathy, familial juvenile, 2
Hypoalbuminemia
Hypophosphatemic rickets, autosomal recessive, 2
Hypopigmentation of the skin
Hypoplasia of the brainstem
Hypoplasia of the corpus callosum
Hypoplasia of the ear cartilage
Hypoplasia of the iris
Hypotelorism
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Intellectual disability
Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital
Interstitial nephritis, karyomegalic
Intrauterine growth restriction
Joint contracture of the hand
Joubert syndrome
Lethal tight skin contracture syndrome
Lipoprotein glomerulopathy
Low-set ears
Lymphedema
Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Macrotia
Malignant tumor of prostate
Mandibuloacral dysplasia with type B lipodystrophy
Meacham syndrome
Medullary cystic kidney disease 2
Megaloblastic anemia due to inborn errors of metabolism
Mesothelioma, malignant
Micrognathia
Microphthalmia
Midface retrusion
Multicentric osteolysis nephropathy
Multiple congenital exostosis
Muscular hypotonia
Nail-patella syndrome
Narrow nasal ridge
Nephroblastoma
Nephronophthisis
Nephronophthisis 12
Nephropathy
Nephropathy with pretibial epidermolysis bullosa and deafness
Nephrotic syndrome
Nephrotic syndrome, idiopathic, steroid-resistant
Nephrotic syndrome, type 3
Nephrotic syndrome, type 5, with or without ocular abnormalities
Nephrotic syndrome, type 6
Nonsyndromic microcephaly
Nystagmus
Obesity
Oligohydramnios
Opacification of the corneal stroma
Optic atrophy
Pachygyria
Pes cavus
Pierson syndrome
Plasma fibronectin deficiency
Polyhydramnios
Premature birth
Prominent nose
Proteinuria
Pseudoxanthoma elasticum
Ptosis
Renal adysplasia
Renal cell carcinoma, nonpapillary
Renal coloboma syndrome
Renal corticomedullary cysts
Renal dysplasia
Renal insufficiency
Schimke immunoosseous dysplasia
Sea-blue histiocyte syndrome
Seizures
Severe combined immunodeficiency, atypical
Shy-Drager syndrome
Slender finger
Sloping forehead
Small for gestational age
Small nail
Spastic tetraplegia
Stage 5 chronic kidney disease
Susceptibility to strabismus
Talipes equinovarus
Thickening of the glomerular basement membrane
Thin glomerular basement membrane
Thrombocytopenia
Tubulointerstitial nephritis
Ventricular septal defect
Ventriculomegaly with cystic kidney disease
Wide mouth
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation syndrome
XFE progeroid syndrome
Xeroderma pigmentosum, group F
progressive
ABCC6 (16p13.11);
ACTN4 (19q13.2);
ALG1 (16p13.3);
AMN (14q32.32);
ANLN (7p14.2)
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ABCC6 (16p13.11)
ACTN4 (19q13.2)
ALG1 (16p13.3)
AMN (14q32.32)
ANLN (7p14.2)
APOE (19q13.32)
APOL1 (22q12.3)
ARHGAP24 (4q21.23-21.3)
ARHGDIA (17q25.3)
CD151 (11p15.5)
CD2AP (6p12.3)
CFH (1q31.3)
COL4A3 (2q36.3)
COL4A4 (2q36.3)
COL4A5 (Xq22.3)
COQ2 (4q21.22-21.23)
COQ6 (14q24.3)
COQ8B (19q13.2)
CRB2 (9q33.3)
CUBN (10p13)
DGKE (17q22)
ELMO1 (7p14.2-14.1)
EMP2 (16p13.13)
ENPP1 (6q23.2)
ERCC4 (16p13.12)
EXT1 (8q24.11)
FAN1 (15q13.3)
FAT1 (4q35.2)
FGA (4q31.3)
FN1 (2q35)
FOXP3 (Xp11.23)
HNF1B (17q12)
INF2 (14q32.33)
ITGA3 (17q21.33)
ITGB4 (17q25.1)
KANK1 (9p24.3)
KANK2 (19p13.2)
KANK4 (1p31.3)
LAGE3 (Xq28)
LAMC1 (1q25.3)
LMX1B (9q33.3)
LPL (8p21.3)
LRP2 (2q31.1)
MAFB (20q12)
MAGI2 (7q21.11)
MEFV (16p13.3)
MYH9 (22q12.3)
MYO1E (15q22.2)
NEIL1 (15q24.2)
NPHS1 (19q13.12)
NPHS2 (1q25.2)
NUP107 (12q15)
NUP205 (7q33)
NUP93 (16q13)
NXF5 (Xq22.1)
OSGEP (14q11.2)
PAX2 (10q24.31)
PDSS2 (6q21)
PLCE1 (10q23.33)
PMM2 (16p13.2)
PTPRO (12p12.3)
REN (1q32.1)
SCARB2 (4q21.1)
SEC61A1 (3q21.3)
SGPL1 (10q22.1)
SMARCAL1 (2q35)
TP53RK (20q13.12)
TPRKB (2p13.1)
TRPC6 (11q22.1)
TTC21B (2q24.3)
UMOD (16p12.3)
WDR73 (15q25.2)
WT1 (11p13)
XPO5 (6p21.1)
ZAP70 (2q11.2)
ZMPSTE24 (1p34.2)
Conditions
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Total conditions: 184
Condition/Phenotype
Identifier
Methodology
Total methods: 0
Method Category
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Test method
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Instrument *
* Instrument: Not provided
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