TaoMedAI/RareMedData huggingface dataset:
Gene: SEC23A
Phenotype: Posterior wedging of vertebral bodies (HP:0008444)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Microdontia (HP:0000691)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Carious teeth (HP:0000670)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Short stature (HP:0004322)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Short stature (HP:0004322)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Narrow chest (HP:0000774)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Narrow chest (HP:0000774)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Hyperpigmentation of the skin (HP:0000953)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Osteopenia (HP:0000938)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Sparse hair (HP:0008070)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Posterior Y-sutural cataract (HP:0008031)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Posterior Y-sutural cataract (HP:0008031)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Malar flattening (HP:0000272)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: High palate (HP:0000218)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: High palate (HP:0000218)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Narrow iliac wing (HP:0002868)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Long philtrum (HP:0000343)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Forehead hyperpigmentation (HP:0005336)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Capillary hemangioma (HP:0005306)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Pes planus (HP:0001763)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Pes planus (HP:0001763)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Wide nose (HP:0000445)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: SEC23A
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Craniolenticulosutural dysplasia; Boyadjiev-Jabs syndrome (ORPHA:50814)
Gene: SEC23A
Phenotype: Esotropia (HP:0000565)
Associated disease: CRANIOLENTICULOSUTURAL DYSPLASIA (OMIM:607812)
Gene: CAP2
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Gene: CAP2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CAP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: CRTAP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: J-shaped sella turcica (HP:0002680)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Decreased palmar creases (HP:0006184)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Femoral retroversion (HP:0008796)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Wormian bones (HP:0002645)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Wormian bones (HP:0002645)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Rhizomelia (HP:0008905)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Porencephalic cyst (HP:0002132)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Nail dysplasia (HP:0002164)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Contracture of the proximal interphalangeal joint of the 2nd finger (HP:0009540)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Infantile onset (HP:0003593)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Congenital onset (HP:0003577)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Coarse hair (HP:0002208)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Arterial rupture (HP:0025019)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Iris atrophy (HP:0001089)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Absent pulmonary artery (HP:0004960)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Gene: CRTAP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Blindness (HP:0000618)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Short stature (HP:0004322)
Associated disease: Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome; Cole-Carpenter syndrome (ORPHA:2050)
Gene: CRTAP
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Antenatal onset (HP:0030674)
Associated disease: OSTEOGENESIS IMPERFECTA, TYPE VII (OMIM:610682)
Gene: CRTAP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CRTAP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CRTAP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Gene: CRTAP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)