TaoMedAI/RareMedData huggingface dataset:
Gene: CBS
Phenotype: Pes planus (HP:0001763)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Pes planus (HP:0001763)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Hammertoe (HP:0001765)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Narrow nasal ridge (HP:0000418)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Pes cavus (HP:0001761)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Pes cavus (HP:0001761)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Cataract (HP:0000518)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Cataract (HP:0000518)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Proptosis (HP:0000520)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Telecanthus (HP:0000506)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Ptosis (HP:0000508)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Camptodactyly of toe (HP:0001836)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Visual impairment (HP:0000505)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Glaucoma (HP:0000501)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Glaucoma (HP:0000501)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Glaucoma (HP:0000501)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Exotropia (HP:0000577)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Exotropia (HP:0000577)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Shallow orbits (HP:0000586)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Keratoconus (HP:0000563)
Associated disease: EHLERS-DANLOS SYNDROME, VASCULAR TYPE (OMIM:130050)
Gene: CBS
Phenotype: Keratoconus (HP:0000563)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Prominent forehead (HP:0011220)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CBS
Phenotype: Esotropia (HP:0000565)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Talipes (HP:0001883)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: Homocystinuria due to cystathionine beta-synthase deficiency; Cystathionine beta-synthase-deficient homocystinuria; Homocystinuria due to CBS deficiency; CBS-deficient HCU; Cystathionine beta-synthase deficiency; Classical homocystinuria (ORPHA:394)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: CONTRACTURAL ARACHNODACTYLY, CONGENITAL (OMIM:121050)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: HOMOCYSTINURIA DUE TO CYSTATHIONINE BETA-SYNTHASE DEFICIENCY (OMIM:236200)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: ARTERIAL TORTUOSITY SYNDROME (OMIM:208050)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: MARFAN SYNDROME (OMIM:154700)
Gene: CBS
Phenotype: Myopia (HP:0000545)
Associated disease: SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME (OMIM:182212)
Gene: CCIN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Reduced progressive sperm motility (HP:0034011)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: CCIN
Phenotype: Globozoospermia (HP:0012205)
Associated disease: SPERMATOGENIC FAILURE 91 (OMIM:620838)
Gene: KRIT1
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Cerebral cavernous malformation (HP:0033522)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Seizure (HP:0001250)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Episodic vomiting (HP:0002572)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Cerebral hemorrhage (HP:0001342)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Spinal cord lesion (HP:0100561)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Intracranial hemorrhage (HP:0002170)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Vestibular schwannoma (HP:0009588)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Adrenal calcification (HP:0010512)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Paresthesia (HP:0003401)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Astrocytoma (HP:0009592)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Hemangioma (HP:0001028)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Headache (HP:0002315)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Headache (HP:0002315)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Focal T2 hypointense brainstem lesion (HP:0012749)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Venous malformation (HP:0012721)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Retinal cavernous hemangioma (HP:0011513)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Retinal vascular malformation (HP:0007797)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Meningioma (HP:0002858)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Hepatic vascular malformations (HP:0006576)
Associated disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Gene: KRIT1
Phenotype: Choroidal hemangioma (HP:0007872)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Neuroma (HP:0030430)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: KRIT1
Phenotype: Vascular skin abnormality (HP:0011276)
Associated disease: Hereditary cerebral cavernous malformation; Familial cerebral cavernous malformation; Hereditary brain cavernous angioma; Familial cerebral cavernoma; Hereditary cerebral cavernoma; Familial brain cavernous angioma (ORPHA:221061)
Gene: CCND2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Syndactyly (HP:0001159)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Seizure (HP:0001250)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Megalencephaly (HP:0001355)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Megalencephaly (HP:0001355)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Absent speech (HP:0001344)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Thick corpus callosum (HP:0007074)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCND2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: High forehead (HP:0000348)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Telecanthus (HP:0000506)
Associated disease: Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome; MPPH syndrome (ORPHA:83473)
Gene: CCND2
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 3 (OMIM:615938)
Gene: CCNF
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Dysarthria (HP:0001260)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Muscle weakness (HP:0001324)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 5 (OMIM:619141)
Gene: CCNF
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CCNF
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)