TaoMedAI/RareMedData huggingface dataset:
Gene: MEG3
Phenotype: Micrognathia (HP:0000347)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Micrognathia (HP:0000347)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Tibial bowing (HP:0002982)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Abnormal aortic arch morphology (HP:0012303)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Short philtrum (HP:0000322)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Short philtrum (HP:0000322)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Short philtrum (HP:0000322)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Premature birth (HP:0001622)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Premature birth (HP:0001622)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Gene: MEG3
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Coat hanger sign of ribs (HP:0006665)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: MEG3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: MEG3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Small nail (HP:0001792)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: MEG3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Short neck (HP:0000470)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Short foot (HP:0001773)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Short foot (HP:0001773)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Wide nose (HP:0000445)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Wide nose (HP:0000445)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: MEG3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: UPD(14)pat; Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 (ORPHA:96334)
Gene: MEG3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Gene: MEG3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Gene: MEG3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: UPD(14)mat; Temple syndrome due to maternal uniparental disomy of chromosome 14 (ORPHA:96184)
Gene: MEG3
Phenotype: Esotropia (HP:0000565)
Associated disease: Maternal del(14)(q32.2); Maternal monosomy 14q32.2; Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion (ORPHA:254528)
Gene: MCM10
Phenotype: Decreased total B cell count (HP:0010976)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Hypoplastic spleen (HP:0006270)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Diarrhea (HP:0002014)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Fetal onset (HP:0011461)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Hypoplasia of the thymus (HP:0000778)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Right atrial enlargement (HP:0030718)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Reduced total natural killer cell count (HP:0040218)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Decreased anti-CD3/28-induced T-cell proliferation (HP:0031382)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Endocardial fibroelastosis (HP:0001706)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: MCM10
Phenotype: Severe cytomegalovirus infection (HP:0031692)
Associated disease: IMMUNODEFICIENCY 80 WITH OR WITHOUT CONGENITAL CARDIOMYOPATHY (OMIM:619313)
Gene: TRPV6
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Stroke (HP:0001297)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Hypotonia (HP:0001252)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Ovarian cyst (HP:0000138)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Enlarged kidney (HP:0000105)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Aminoaciduria (HP:0003355)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Abnormal circulating calcium-phosphate regulating hormone concentration (HP:0100530)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Respiratory distress (HP:0002098)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Undulate ribs (HP:0010561)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Fractured rib (HP:0041159)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Short stature (HP:0004322)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Congenital nystagmus (HP:0006934)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Third trimester onset (HP:0034197)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Short long bone (HP:0003026)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Narrow chest (HP:0000774)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Narrow chest (HP:0000774)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Short ribs (HP:0000773)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Short nasal bridge (HP:0003194)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Thin ribs (HP:0000883)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Hyperparathyroidism (HP:0000843)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Short femur (HP:0003097)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Abnormality of the thyroid gland (HP:0000820)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)
Gene: TRPV6
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRPV6
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRPV6
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: TRPV6
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPERPARATHYROIDISM, TRANSIENT NEONATAL (OMIM:618188)
Gene: TRPV6
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Neonatal severe primary hyperparathyroidism; NSHPT (ORPHA:417)