TaoMedAI/RareMedData huggingface dataset:
Gene: AMER1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Cleft palate (HP:0000175)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Delayed closure of the anterior fontanelle (HP:0001476)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Anal stenosis (HP:0002025)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Anal atresia (HP:0002023)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Laryngeal web (HP:0005950)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Apnea (HP:0002104)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Echolalia (HP:0010529)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Facial palsy (HP:0010628)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Facial palsy (HP:0010628)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Severe short stature (HP:0003510)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Aphasia (HP:0002381)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Headache (HP:0002315)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Coarse metaphyseal trabecularization (HP:0100670)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Osteopathia striata (HP:0010740)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Mutism (HP:0002300)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Dental crowding (HP:0000678)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Natal tooth (HP:0000695)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Short stature (HP:0004322)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Thoracolumbar kyphosis (HP:0005619)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Broad ribs (HP:0000885)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Flexion contracture of toe (HP:0005830)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Epicanthus (HP:0000286)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Delayed cranial suture closure (HP:0000270)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: High palate (HP:0000218)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Omphalocele (HP:0001539)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Flat face (HP:0012368)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Overfolded helix (HP:0000396)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Straight clavicles (HP:0006587)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Low-set ears (HP:0000369)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Osteopetrosis (HP:0011002)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Micrognathia (HP:0000347)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Fibular aplasia (HP:0002990)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Webbed neck (HP:0000465)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Flat occiput (HP:0005469)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Facial hyperostosis (HP:0005465)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Craniofacial osteosclerosis (HP:0005464)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Paranasal sinus hypoplasia (HP:0006784)
Associated disease: OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS (OMIM:300373)
Gene: AMER1
Phenotype: Cataract (HP:0000518)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AMER1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Hyperostosis generalisata with striations; Robinow-Unger syndrome; Osteopathia striata-cranial sclerosis syndrome (ORPHA:2780)
Gene: AMER1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AMER1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PTCHD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Impulsivity (HP:0100710)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Motor tics (HP:0100034)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: PTCHD1
Phenotype: Autism (HP:0000717)
Associated disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 4 (OMIM:300830)
Gene: DOCK11
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Hypotonia (HP:0001252)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Acute respiratory distress syndrome (HP:0033677)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Anti-thyroid peroxidase antibody positivity (HP:0025379)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Recurrent gastroenteritis (HP:0031123)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)
Gene: DOCK11
Phenotype: Oral ulcer (HP:0000155)
Associated disease: AUTOINFLAMMATORY DISEASE, MULTISYSTEM, WITH IMMUNE DYSREGULATION, X-LINKED (OMIM:301109)