TaoMedAI/RareMedData huggingface dataset:
Gene: FAM111A
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Asplenia (HP:0001746)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Postnatal macrocephaly (HP:0005490)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Calvarial osteosclerosis (HP:0005450)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Aniridia (HP:0000526)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM111A
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Abnormal circulating follicle-stimulating hormone concentration (HP:0030346)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: GRACILE BONE DYSPLASIA (OMIM:602361)
Gene: FAM111A
Phenotype: Microphthalmia (HP:0000568)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: KENNY-CAFFEY SYNDROME, TYPE 2 (OMIM:127000)
Gene: FAM111A
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Autosomal dominant Kenny-Caffey syndrome (ORPHA:93325)
Gene: FAM111A
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM111A
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NAPB
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: NAPB
Phenotype: Visual impairment (HP:0000505)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 107 (OMIM:620033)
Gene: SLC17A9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Gene: SLC17A9
Phenotype: Papule (HP:0200034)
Associated disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Gene: SLC17A9
Phenotype: Porokeratosis (HP:0200044)
Associated disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Gene: SLC17A9
Phenotype: Porokeratosis (HP:0200044)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: SLC17A9
Phenotype: Juvenile onset (HP:0003621)
Associated disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Gene: SLC17A9
Phenotype: Young adult onset (HP:0011462)
Associated disease: POROKERATOSIS 8, DISSEMINATED SUPERFICIAL ACTINIC TYPE (OMIM:616063)
Gene: SLC17A9
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: SLC17A9
Phenotype: Pruritus (HP:0000989)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: SLC17A9
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Disseminated superficial actinic porokeratosis (ORPHA:79152)
Gene: BLOC1S5
Phenotype: Ocular albinism (HP:0001107)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Reduced platelet dense granules (HP:0033535)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Menorrhagia (HP:0000132)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Fair hair (HP:0002286)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Albinism (HP:0001022)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Nystagmus (HP:0000639)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Photophobia (HP:0000613)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Strabismus (HP:0000486)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: BLOC1S5
Phenotype: Epistaxis (HP:0000421)
Associated disease: HERMANSKY-PUDLAK SYNDROME 11 (OMIM:619172)
Gene: ELMO2
Phenotype: Seizure (HP:0001250)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Supraumbilical raphe (HP:0410276)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Narrow palate (HP:0000189)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Gingival fibromatosis (HP:0000169)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Osteolysis (HP:0002797)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Telangiectasia of the skin (HP:0100585)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Progressive (HP:0003676)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Ectopic tooth eruption (HP:4000093)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Full cheeks (HP:0000293)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Gingival bleeding (HP:0000225)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Diastasis recti (HP:0001540)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Proptosis (HP:0000520)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: ELMO2
Phenotype: Abnormal anterior chamber morphology (HP:0000593)
Associated disease: Cherubism-gingival fibromatosis-intellectual disability syndrome; Ramon syndrome (ORPHA:3019)
Gene: ELMO2
Phenotype: Visual loss (HP:0000572)
Associated disease: VASCULAR MALFORMATION, PRIMARY INTRAOSSEOUS (OMIM:606893)
Gene: CIDEC
Phenotype: Skeletal muscle hypertrophy (HP:0003712)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Polycystic ovaries (HP:0000147)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Loss of subcutaneous adipose tissue in limbs (HP:0003635)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Juvenile onset (HP:0003621)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Diabetic ketoacidosis (HP:0001953)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Loss of gluteal subcutaneous adipose tissue (HP:0009017)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Decreased adiponectin level (HP:0030685)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Increased C-peptide level (HP:0030796)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Oligomenorrhea (HP:0000876)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Irregular menstruation (HP:0000858)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Insulin-resistant diabetes mellitus (HP:0000831)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Hypertension (HP:0000822)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Decreased serum leptin (HP:0003292)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Gene: CIDEC
Phenotype: Acanthosis nigricans (HP:0000956)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Loss of facial adipose tissue (HP:0000292)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: CIDEC
Phenotype: Pancreatitis (HP:0001733)
Associated disease: CIDEC-related FPLD; FPLD5; CIDEC-related familial partial lipodystrophy (ORPHA:435651)
Gene: ZNF335
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Hypertonia (HP:0001276)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Spasticity (HP:0001257)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Abnormal cerebral cortex morphology (HP:0002538)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Abnormal cerebral morphology (HP:0002060)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Gliosis (HP:0002171)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Abnormal neuron morphology (HP:0012757)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Microcephalic primordial dwarfism, Walsh type; Microcephalic primordial dwarfism due to ZNF335 deficiency (ORPHA:329228)
Gene: ZNF335
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: ZNF335
Phenotype: Cataract (HP:0000518)
Associated disease: MICROCEPHALY 10, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:615095)
Gene: XPNPEP3
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Seizure (HP:0001250)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Chronic pancreatitis (HP:0006280)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Hyperechogenic kidneys (HP:0004719)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Tubular basement membrane disintegration (HP:0005583)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)
Gene: XPNPEP3
Phenotype: Hypertension (HP:0000822)
Associated disease: NEPHRONOPHTHISIS-LIKE NEPHROPATHY 1 (OMIM:613159)