TaoMedAI/RareMedData huggingface dataset:
Gene: FILIP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: High palate (HP:0000218)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Triangular face (HP:0000325)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Broad neck (HP:0000475)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Short neck (HP:0000470)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Webbed neck (HP:0000465)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Ptosis (HP:0000508)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: FILIP1
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Gene: STK36
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Reduced forced vital capacity (HP:0032341)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Reduced forced expiratory volume in one second (HP:0032342)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 46 (OMIM:619436)
Gene: STK36
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: STK36
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CPAMD8
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Ectopia pupillae (HP:0009918)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Uveal ectropion (HP:0025358)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Corneal stromal edema (HP:0012040)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Optic nerve dysplasia (HP:0001093)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Iridodonesis (HP:0100693)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Childhood onset (HP:0011463)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Microphakia (HP:0012376)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Corneal opacity (HP:0007957)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: CPAMD8
Phenotype: Cataract (HP:0000518)
Associated disease: ANTERIOR SEGMENT DYSGENESIS 8 (OMIM:617319)
Gene: INTU
Phenotype: Septate vagina (HP:0001153)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Microtia (HP:0008551)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Uterus didelphys (HP:0003762)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Long thorax (HP:0100818)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Laryngeal hypoplasia (HP:0008749)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Neonatal death (HP:0003811)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Micropenis (HP:0000054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Micropenis (HP:0000054)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Central Y-shaped metacarpal (HP:0006145)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Cleft palate (HP:0000175)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Cleft lip (HP:0410030)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: High, narrow palate (HP:0002705)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Anal atresia (HP:0002023)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Frontal bossing (HP:0002007)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Narrow greater sciatic notch (HP:0003375)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Polydactyly (HP:0010442)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Short middle phalanx of the 2nd finger (HP:0009577)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Esophageal diverticulum (HP:0100628)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Natal tooth (HP:0000695)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Decreased body weight (HP:0004325)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Short stature (HP:0004322)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Short long bone (HP:0003026)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Absent gallbladder (HP:0011467)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Narrow chest (HP:0000774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Short tibia (HP:0005736)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Inverted nipples (HP:0003186)
Associated disease: OROFACIODIGITAL SYNDROME XVII (OMIM:617926)
Gene: INTU
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: INTU
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: INTU
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 20 WITH POLYDACTYLY (OMIM:617925)
Gene: INTU
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)