TaoMedAI/RareMedData huggingface dataset:
Gene: DCHS1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Absence of pubertal development (HP:0008197)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Wide cranial sutures (HP:0010537)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Congenital onset (HP:0003577)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Bilateral choanal atresia/stenosis (HP:0200138)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Short 4th metacarpal (HP:0010044)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Short stature (HP:0004322)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Narrow chest (HP:0000774)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Irregular dentition (HP:0040079)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Irregular dentition (HP:0040079)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Short clavicles (HP:0000894)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Malar flattening (HP:0000272)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Caudal appendage (HP:0002825)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Clinodactyly (HP:0030084)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: High palate (HP:0000218)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Growth delay (HP:0001510)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Micrognathia (HP:0000347)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: MITRAL VALVE PROLAPSE 2 (OMIM:607829)
Gene: DCHS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MITRAL VALVE PROLAPSE 2 (OMIM:607829)
Gene: DCHS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Atresia of the external auditory canal (HP:0000413)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DCHS1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DCHS1
Phenotype: Ptosis (HP:0000508)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VAN MALDERGEM SYNDROME 1 (OMIM:601390)
Gene: DCHS1
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Cerebrofacioarticular syndrome; Van Maldergem syndrome (ORPHA:314679)
Gene: DCHS1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: PTCH2
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: PTCH2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Neoplasm (HP:0002664)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: BASAL CELL CARCINOMA, SUSCEPTIBILITY TO, 1 (OMIM:605462)
Gene: PTCH2
Phenotype: Basal cell carcinoma (HP:0002671)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: PTCH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: PTCH2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: PTCH2
Phenotype: Frontal bossing (HP:0002007)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Abnormal vertebral morphology (HP:0003468)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Odontogenic keratocysts of the jaw (HP:0010603)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Ovarian fibroma (HP:0010618)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Cardiac fibroma (HP:0010617)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Palmar pits (HP:0010610)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Plantar pits (HP:0010612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Vertebral wedging (HP:0008422)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Carious teeth (HP:0000670)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Abnormal rib morphology (HP:0000772)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Abnormality of the sense of smell (HP:0004408)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Anterior rib cupping (HP:0000907)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Rib fusion (HP:0000902)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Bifid ribs (HP:0000892)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Epicanthus (HP:0000286)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Medulloblastoma (HP:0002885)
Associated disease: MEDULLOBLASTOMA (OMIM:155255)
Gene: PTCH2
Phenotype: Meningioma (HP:0002858)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Strabismus (HP:0000486)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Bridged sella turcica (HP:0005449)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Calcification of falx cerebri (HP:0005462)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Cataract (HP:0000518)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Telecanthus (HP:0000506)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: PTCH2
Phenotype: Glaucoma (HP:0000501)
Associated disease: NBCCS; Nevoid basal cell carcinoma syndrome; Basal cell nevus syndrome; Gorlin syndrome; Gorlin-Goltz syndrome (ORPHA:377)
Gene: ABCB11
Phenotype: Death in childhood (HP:0003819)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Cirrhosis (HP:0001394)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Tremor (HP:0001337)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Asterixis (HP:0012164)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)
Gene: ABCB11
Phenotype: Bile duct proliferation (HP:0001408)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 3 (OMIM:602347)
Gene: ABCB11
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, BENIGN RECURRENT INTRAHEPATIC, 2 (OMIM:605479)
Gene: ABCB11
Phenotype: Hepatocellular carcinoma (HP:0001402)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 2 (OMIM:601847)
Gene: ABCB11
Phenotype: Palmar pruritus (HP:0031248)
Associated disease: Recurrent intrahepatic cholestasis of pregnancy; Intrahepatic cholestasis of pregnancy; Gravidic intrahepatic cholestasis; Pregnancy-related cholestasis (ORPHA:69665)