TaoMedAI/RareMedData huggingface dataset:
Gene: CCBE1
Phenotype: Scoliosis (HP:0002650)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Narrow palate (HP:0000189)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Malabsorption (HP:0002024)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Rectal prolapse (HP:0002035)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Periorbital edema (HP:0100539)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Thyroid lymphangiectasia (HP:0008229)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Abnormal oral mucosa morphology (HP:0011830)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Erysipelas (HP:0001055)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Erysipelas (HP:0001055)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Hirsutism (HP:0001007)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Tooth agenesis (HP:0009804)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Small hand (HP:0200055)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Short palm (HP:0004279)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Oligodontia (HP:0000677)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Decreased circulating immunoglobulin concentration (HP:0004313)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Arteriovenous malformation (HP:0100026)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Chylothorax (HP:0010310)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Epicanthus (HP:0000286)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Retrognathia (HP:0000278)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Malar flattening (HP:0000272)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Mild postnatal growth retardation (HP:0001530)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Ascites (HP:0001541)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Hypoplastic iliac wing (HP:0002866)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Conical incisor (HP:0011065)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Camptodactyly (HP:0012385)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Flat face (HP:0012368)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Flat face (HP:0012368)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pleural lymphangiectasia (HP:0006531)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Pulmonary lymphangiectasia (HP:0006521)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pulmonary lymphangiectasia (HP:0006521)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Pericardial lymphangiectasia (HP:0005183)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Broad forehead (HP:0000337)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Broad forehead (HP:0000337)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Short foot (HP:0001773)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Abnormal foot morphology (HP:0001760)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CCBE1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME 1 (OMIM:235510)
Gene: CCBE1
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: Hennekam syndrome; Lymphedema-lymphangiectasia-intellectual disability syndrome (ORPHA:2136)
Gene: CCBE1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: DSG4
Phenotype: Pili torti (HP:0003777)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Slow-growing hair (HP:0002217)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Fine hair (HP:0002213)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Brittle hair (HP:0002299)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Brittle hair (HP:0002299)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Erythema (HP:0010783)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Pruritus (HP:0000989)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 6 (OMIM:607903)
Gene: DSG4
Phenotype: Sparse hair (HP:0008070)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: DSG4
Phenotype: Abnormal eyelash morphology (HP:0000499)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Cataract (HP:0000518)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: DSG4
Phenotype: Abnormal eyebrow morphology (HP:0000534)
Associated disease: Monilethrix; Moniliform hair syndrome (ORPHA:573)
Gene: APCDD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse axillary hair (HP:0002215)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: APCDD1
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: APCDD1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: APCDD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: APCDD1
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Sparse hair (HP:0008070)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: APCDD1
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: HYPOTRICHOSIS 1 (OMIM:605389)
Gene: APCDD1
Phenotype: Alopecia (HP:0001596)
Associated disease: Hypotrichosis simplex; Hereditary hypotrichosis simplex (ORPHA:55654)
Gene: KASH5
Phenotype: Spermatocyte maturation arrest (HP:0031039)
Associated disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)
Gene: KASH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)
Gene: KASH5
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Female infertility (HP:0008222)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: PREMATURE OVARIAN FAILURE 22 (OMIM:620548)
Gene: KASH5
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 88 (OMIM:620547)