TaoMedAI/RareMedData huggingface dataset:
Gene: CRELD1
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Nystagmus (HP:0000639)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Short stature (HP:0004322)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hypercalcemia (HP:0003072)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Patellar hypoplasia (HP:0003065)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Tall chin (HP:0400000)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Partial atrioventricular canal defect (HP:0011577)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Hypernatremia (HP:0003228)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Thin eyebrow (HP:0045074)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Alopecia (HP:0001596)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Malar flattening (HP:0000272)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Microcephaly (HP:0000252)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: High palate (HP:0000218)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Allergy (HP:0012393)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Sloping forehead (HP:0000340)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Abnormal autonomic nervous system physiology (HP:0012332)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Micrognathia (HP:0000347)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Gene: CRELD1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Bradycardia (HP:0001662)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Short philtrum (HP:0000322)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Pointed chin (HP:0000307)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Persistent head lag (HP:0032988)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Astigmatism (HP:0000483)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Strabismus (HP:0000486)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Chronic respiratory acidosis (HP:0012466)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Short foot (HP:0001773)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Wide nose (HP:0000445)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Medullary nephrocalcinosis (HP:0012408)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Mild hypermetropia (HP:0031728)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CRELD1
Phenotype: Proptosis (HP:0000520)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Ptosis (HP:0000508)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Exotropia (HP:0000577)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Esotropia (HP:0000565)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Oral aversion (HP:0012523)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Myopia (HP:0000545)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: CRELD1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Gene: COLEC11
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Hypospadias (HP:0000047)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Cleft palate (HP:0000175)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Congenital onset (HP:0003577)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Prominence of the premaxilla (HP:0010759)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Hypoplasia of the musculature (HP:0009004)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Abnormality of the vertebral column (HP:0000925)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Prominent coccyx (HP:0040016)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Broad philtrum (HP:0000289)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Caudal appendage (HP:0002825)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Caudal appendage (HP:0002825)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: High palate (HP:0000218)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Diastasis recti (HP:0001540)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: COLEC11
Phenotype: Partial abdominal muscle agenesis (HP:0005243)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)
Gene: COLEC11
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: COLEC11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: COLEC11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 3MC SYNDROME 2 (OMIM:265050)