TaoMedAI/RareMedData huggingface dataset:
Gene: FOXRED1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 19 (OMIM:618241)
Gene: FOXRED1
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: FOXRED1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: OTUD5
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Seizure (HP:0001250)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypotonia (HP:0001252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Micropenis (HP:0000054)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypospadias (HP:0000047)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Coxa valga (HP:0002673)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Butterfly vertebrae (HP:0003316)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Reduced blood folate concentration (HP:0100507)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Congenital onset (HP:0003577)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Large earlobe (HP:0009748)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Megarectum (HP:0025024)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hirsutism (HP:0001007)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Nystagmus (HP:0000639)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypodontia (HP:0000668)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Short stature (HP:0004322)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Retrognathia (HP:0000278)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Microcephaly (HP:0000252)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Abnormal left ventricular function (HP:0005162)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Low-set ears (HP:0000369)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Pointed chin (HP:0000307)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Corneal opacity (HP:0007957)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Astigmatism (HP:0000483)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Strabismus (HP:0000486)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Small nail (HP:0001792)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Telecanthus (HP:0000506)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: OTUD5
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED (OMIM:301056)
Gene: ZCCHC8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 (OMIM:618674)
Gene: ZCCHC8
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 (OMIM:618674)
Gene: ZCCHC8
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 (OMIM:618674)
Gene: ZCCHC8
Phenotype: Short telomere length (HP:0031413)
Associated disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 5 (OMIM:618674)
Gene: RNPC3
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Frontal bossing (HP:0002007)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Infantile onset (HP:0003593)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Anterior pituitary hypoplasia (HP:0010627)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Short stature (HP:0004322)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Abdominal obesity (HP:0012743)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Gene: RNPC3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RNPC3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RNPC3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)