TaoMedAI/RareMedData huggingface dataset:
Gene: TWIST2
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Distichiasis (HP:0009743)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Distichiasis (HP:0009743)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Breast aplasia (HP:0100783)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Abnormal sacroiliac joint morphology (HP:0100781)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Hypoplasia of the zygomatic bone (HP:0010669)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Dermal translucency (HP:0010648)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplasia of eyelid (HP:0430009)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Abnormality of skin pigmentation (HP:0001000)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Corneal erosion (HP:0200020)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Aged leonine appearance (HP:0008509)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Premature skin wrinkling (HP:0100678)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Dimple chin (HP:0010751)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Lacrimation abnormality (HP:0000632)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Short metacarpal (HP:0010049)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Bitemporal forceps marks (HP:0011336)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Microdontia (HP:0000691)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Ectropion (HP:0000656)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Ectropion (HP:0000656)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypodontia (HP:0000668)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Dermal atrophy (HP:0004334)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Extra concha fold (HP:0400002)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Fetal onset (HP:0011461)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Aplastic zygomatic arch (HP:0034260)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Absent lanugo (HP:0034262)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Breast hypoplasia (HP:0003187)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Dry skin (HP:0000958)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Dry skin (HP:0000958)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Dry skin (HP:0000958)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Thin skin (HP:0000963)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Thin skin (HP:0000963)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Sparse hair (HP:0008070)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Sparse hair (HP:0008070)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Sparse hair (HP:0008070)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Sparse hair (HP:0008070)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Aplasia/Hypoplasia of the skin (HP:0008065)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Epicanthus (HP:0000286)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Epicanthus (HP:0000286)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Sparse lower eyelashes (HP:0007776)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Redundant skin (HP:0001582)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Redundant skin (HP:0001582)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Redundant skin (HP:0001582)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Redundant skin (HP:0001582)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: High palate (HP:0000218)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Omphalocele (HP:0001539)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Omphalocele (HP:0001539)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Growth delay (HP:0001510)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Ventral hernia (HP:0002933)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Low-set ears (HP:0000369)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Low-set ears (HP:0000369)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Micrognathia (HP:0000347)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Short philtrum (HP:0000322)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Sparse lateral eyebrow (HP:0005338)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Stenosis of the external auditory canal (HP:0000402)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Strabismus (HP:0000486)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Wide nose (HP:0000445)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE (OMIM:227260)
Gene: TWIST2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: FFDD type III; FFDD3; Focal facial dermal dysplasia 3, Setleis type; Focal facial dermal dysplasia type III; Setleis syndrome (ORPHA:1807)
Gene: TWIST2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Prominent digit pad (HP:0011298)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Microtia, third degree (HP:0011267)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Telecanthus (HP:0000506)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Microtia, first degree (HP:0011266)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Microtia, first degree (HP:0011266)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Epiblepharon (HP:0011225)
Associated disease: BARBER-SAY SYNDROME (OMIM:209885)
Gene: TWIST2
Phenotype: Ablepharon (HP:0011224)
Associated disease: Barber-Say syndrome; Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome (ORPHA:1231)
Gene: TWIST2
Phenotype: Ablepharon (HP:0011224)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Ablepharon (HP:0011224)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: TWIST2
Phenotype: Absent eyelashes (HP:0000561)
Associated disease: ABLEPHARON-MACROSTOMIA SYNDROME (OMIM:200110)
Gene: TWIST2
Phenotype: Myopia (HP:0000545)
Associated disease: Ablepharon macrostomia syndrome (ORPHA:920)
Gene: ANTXR2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Increased susceptibility to fractures (HP:0002659)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ANTXR2
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ANTXR2
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Osteolysis (HP:0002797)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Gene: ANTXR2
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Osteomalacia (HP:0002749)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Gene: ANTXR2
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Malabsorption (HP:0002024)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Infantile systemic hyalinosis (ORPHA:2176)
Gene: ANTXR2
Phenotype: Diarrhea (HP:0002014)
Associated disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)