TaoMedAI/RareMedData huggingface dataset:
Gene: ARL13B
Phenotype: Encephalocele (HP:0002084)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Apnea (HP:0002104)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Nystagmus (HP:0000639)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Biparietal narrowing (HP:0004422)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Abnormality of the hypothalamus-pituitary axis (HP:0000864)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Long face (HP:0000276)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Hyperventilation (HP:0002883)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Episodic tachypnea (HP:0002876)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Obesity (HP:0001513)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Low-set ears (HP:0000369)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: ARL13B
Phenotype: Ptosis (HP:0000508)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: ARL13B
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: JOUBERT SYNDROME 8 (OMIM:612291)
Gene: SLC51A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Periportal fibrosis (HP:0001405)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Bleeding requiring red cell transfusion (HP:0011888)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: SLC51A
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Gene: KLHDC8B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LYMPHOMA, HODGKIN, CLASSIC (OMIM:236000)
Gene: KLHDC8B
Phenotype: Hodgkin lymphoma (HP:0012189)
Associated disease: LYMPHOMA, HODGKIN, CLASSIC (OMIM:236000)
Gene: KLHDC8B
Phenotype: Impaired lymphocyte transformation with phytohemagglutinin (HP:0003347)
Associated disease: LYMPHOMA, HODGKIN, CLASSIC (OMIM:236000)
Gene: KLHDC8B
Phenotype: Polyclonal elevation of IgM (HP:0003459)
Associated disease: LYMPHOMA, HODGKIN, CLASSIC (OMIM:236000)
Gene: CEP112
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: CEP112
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: CEP112
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: CEP112
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: CEP112
Phenotype: Abnormal circulating testosterone concentration (HP:0030087)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: CEP112
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 44 (OMIM:619044)
Gene: FLCN
Phenotype: Language impairment (HP:0002463)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Expressive language delay (HP:0002474)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Receptive language delay (HP:0010863)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Sporadic (HP:0003745)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: FLCN
Phenotype: Sebaceous hyperplasia (HP:0032227)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Trichodiscoma (HP:0032228)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Seizure (HP:0001250)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS (OMIM:173600)
Gene: FLCN
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS (OMIM:173600)
Gene: FLCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Scoliosis (HP:0002650)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Wide mouth (HP:0000154)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Cutaneous leiomyoma (HP:0007620)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Renal cyst (HP:0000107)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Multiple pulmonary cysts (HP:0005948)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Familial spontaneous pneumothorax (ORPHA:2903)
Gene: FLCN
Phenotype: Emphysema (HP:0002097)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Abnormal pleura morphology (HP:0002103)
Associated disease: Familial spontaneous pneumothorax (ORPHA:2903)
Gene: FLCN
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Spontaneous pneumothorax (HP:0002108)
Associated disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS (OMIM:173600)
Gene: FLCN
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Pneumothorax (HP:0002107)
Associated disease: Familial spontaneous pneumothorax (ORPHA:2903)
Gene: FLCN
Phenotype: Skin tags (HP:0010609)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Sleep apnea (HP:0010535)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Echolalia (HP:0010529)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Renal neoplasm (HP:0009726)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Aphasia (HP:0002381)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Papule (HP:0200034)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Pulmonary sequestration (HP:0100632)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: FLCN
Phenotype: Dental crowding (HP:0000678)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Short stature (HP:0004322)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Colon cancer (HP:0003003)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Hyperactivity (HP:0000752)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Autism (HP:0000717)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Trigonocephaly (HP:0000243)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Parathyroid adenoma (HP:0002897)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Microcephaly (HP:0000252)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Abnormal renal morphology (HP:0012210)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: High palate (HP:0000218)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Uterine leiomyosarcoma (HP:0002891)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Medullary thyroid carcinoma (HP:0002865)
Associated disease: Hornstein-Knickenberg syndrome; Birt-Hogg-Dubé syndrome (ORPHA:122)
Gene: FLCN
Phenotype: Failure to thrive (HP:0001508)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Small for gestational age (HP:0001518)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Hearing impairment (HP:0000365)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Broad forehead (HP:0000337)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Micrognathia (HP:0000347)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Hypertelorism (HP:0000316)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Triangular face (HP:0000325)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Delayed myelination (HP:0012448)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: FLCN
Phenotype: Large intestinal polyposis (HP:0030255)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Cutaneous leiomyosarcoma (HP:0006755)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Transitional cell carcinoma of the bladder (HP:0006740)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Hereditary nonpolyposis colorectal carcinoma (HP:0006716)
Associated disease: COLORECTAL CANCER (OMIM:114500)
Gene: FLCN
Phenotype: Fibrofolliculoma (HP:0030436)
Associated disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Gene: FLCN
Phenotype: Hypermetropia (HP:0000540)
Associated disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Gene: UNC13D
Phenotype: Seizure (HP:0001250)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Colitis (HP:0002583)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Coma (HP:0001259)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Cholestatic liver disease (HP:0002611)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormal natural killer cell physiology (HP:0012177)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Hemophagocytosis (HP:0012156)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormality of multiple cell lineages in the bone marrow (HP:0012145)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Infantile onset (HP:0003593)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Erythroderma (HP:0001019)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Fever (HP:0001945)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Fever (HP:0001945)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Gene: UNC13D
Phenotype: Anemia (HP:0001903)
Associated disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Gene: UNC13D
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)