TaoMedAI/RareMedData huggingface dataset:
Gene: PPP2R3C
Phenotype: Low-set ears (HP:0000369)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Long philtrum (HP:0000343)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Accessory spleen (HP:0001747)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PPP2R3C
Phenotype: Bifid distal phalanx of toe (HP:0001853)
Associated disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Gene: PHIP
Phenotype: Tapered finger (HP:0001182)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Tapered finger (HP:0001182)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Seizure (HP:0001250)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Hypotonia (HP:0001252)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Constipation (HP:0002019)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Impulsivity (HP:0100710)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Impulsivity (HP:0100710)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Large earlobe (HP:0009748)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Hand tremor (HP:0002378)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Nystagmus (HP:0000639)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Synophrys (HP:0000664)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Synophrys (HP:0000664)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Increased body weight (HP:0004324)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Anxiety (HP:0000739)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Short nose (HP:0003196)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Epicanthus (HP:0000286)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Epicanthus (HP:0000286)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: High palate (HP:0000218)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Obesity (HP:0001513)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Fatigue (HP:0012378)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Long philtrum (HP:0000343)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Long philtrum (HP:0000343)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: High forehead (HP:0000348)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: High forehead (HP:0000348)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Micrognathia (HP:0000347)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Round face (HP:0000311)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Short philtrum (HP:0000322)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Macrotia (HP:0000400)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Macrotia (HP:0000400)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Strabismus (HP:0000486)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Strabismus (HP:0000486)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Meconium stained amniotic fluid (HP:0012420)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Ptosis (HP:0000508)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: PHIP
Phenotype: Hypermetropia (HP:0000540)
Associated disease: CHUNG-JANSEN SYNDROME (OMIM:617991)
Gene: PHIP
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: DIDOD; Chung-Jansen syndrome; PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (ORPHA:589905)
Gene: BANK1
Phenotype: Anti-La/SS-B antibody positivity (HP:0032235)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-nucleoporin 62 antibody positivity (HP:0033556)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Cheilitis (HP:0100825)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Seizure (HP:0001250)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Discoid lupus rash (HP:0007417)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Proteinuria (HP:0000093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Arthritis (HP:0001369)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Malaise (HP:0033834)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Pyuria (HP:0012085)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Lupus nephritis (HP:0033726)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Malar rash (HP:0025300)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Oral ulcer (HP:0000155)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Chorea (HP:0002072)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anorexia (HP:0002039)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Antineutrophil antibody positivity (HP:0003453)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Antinuclear antibody positivity (HP:0003493)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-titin antibody positivity (HP:5000038)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Abnormality of salivation (HP:0100755)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Abnormal pigmentation of the oral mucosa (HP:0100669)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-dsDNA antibody positivity (HP:0020151)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-ribosome Po antibody positivity (HP:0034076)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-complement component C1q antibody positivity (HP:0034077)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-phosphatidic acid antibody positivity (HP:0034096)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-Ro52/TRIM21 antibody positivity (HP:0034093)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Fever (HP:0001945)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Depression (HP:0000716)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Hematuria (HP:0000790)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Polyarticular arthritis (HP:0005764)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Hypertension (HP:0000822)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Raynaud phenomenon (HP:0030880)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Decreased circulating complement C4 concentration (HP:0045042)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Serositis (HP:0045073)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-U1 ribonucleoprotein antibody positivity (HP:0033028)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Anti-Sm antibody positivity (HP:0033040)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Alopecia (HP:0001596)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Fatigue (HP:0012378)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Retinopathy (HP:0000488)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Weight loss (HP:0001824)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: BANK1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Disseminated lupus erythematosus; SLE; Systemic lupus erythematosus (ORPHA:536)
Gene: HEATR3
Phenotype: Preaxial hand polydactyly (HP:0001177)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Tapered finger (HP:0001182)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Brachydactyly (HP:0001156)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Partial duplication of thumb phalanx (HP:0009944)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Triphalangeal thumb (HP:0001199)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Microtia (HP:0008551)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Nevus (HP:0003764)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Lethargy (HP:0001254)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Hypotonia (HP:0001252)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Abnormality of the thenar eminence (HP:0001227)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Hypospadias (HP:0000047)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Osteosarcoma (HP:0002669)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Narrow mouth (HP:0000160)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Erythroid hypoplasia (HP:0012133)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)
Gene: HEATR3
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: DIAMOND-BLACKFAN ANEMIA 21 (OMIM:620072)
Gene: HEATR3
Phenotype: Cleft lip (HP:0410030)
Associated disease: Congenital pure red cell aplasia; Diamond-Blackfan anemia; Congenital PRCA; Diamond-Blackfan anemia syndrome (ORPHA:124)