TaoMedAI/RareMedData huggingface dataset:
Gene: RALA
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RALA
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RANBP2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Hypertonia (HP:0001276)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Hypertonia (HP:0001276)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Seizure (HP:0001250)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Seizure (HP:0001250)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Spasticity (HP:0001257)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Coma (HP:0001259)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Coma (HP:0001259)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Abnormal pattern of respiration (HP:0002793)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Abnormal visual fixation (HP:0025404)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Abnormality of the immune system (HP:0002715)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Vomiting (HP:0002013)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Pneumonia (HP:0002090)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Rigidity (HP:0002063)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Cerebral edema (HP:0002181)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Gliosis (HP:0002171)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Gliosis (HP:0002171)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Choroid hemorrhage (HP:0011887)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Infantile onset (HP:0003593)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Developmental regression (HP:0002376)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Fever (HP:0001945)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Abnormal putamen morphology (HP:0031982)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Abnormal brainstem MRI signal intensity (HP:0012747)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RANBP2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 3 (OMIM:608033)
Gene: RANBP2
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: Recurrent acute necrotizing encephalopathy; ADANE; Familial acute necrotizing encephalopathy (ORPHA:88619)
Gene: RAP1B
Phenotype: Brachydactyly (HP:0001156)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Syndactyly (HP:0001159)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Motor delay (HP:0001270)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hypotonia (HP:0001252)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Aortic root aneurysm (HP:0002616)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Open mouth (HP:0000194)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Congenital onset (HP:0003577)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Nystagmus (HP:0000639)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Iris coloboma (HP:0000612)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Anemia (HP:0001903)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Dental crowding (HP:0000678)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Short stature (HP:0004322)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Antenatal onset (HP:0030674)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Childhood onset (HP:0011463)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Anteverted ears (HP:0040080)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hippocampal malrotation (HP:0034396)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Dry skin (HP:0000958)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Epicanthus (HP:0000286)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Retrognathia (HP:0000278)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: High palate (HP:0000218)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Obesity (HP:0001513)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Low-set ears (HP:0000369)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Long philtrum (HP:0000343)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Micrognathia (HP:0000347)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hypertelorism (HP:0000316)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Ventricular hypertrophy (HP:0001714)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Astigmatism (HP:0000483)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Bulbous nose (HP:0000414)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Underdeveloped tragus (HP:0011272)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Cataract (HP:0000518)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Hypermetropia (HP:0000540)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1B
Phenotype: Pancytopenia (HP:0001876)
Associated disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Gene: RAP1GDS1
Phenotype: Expressive language delay (HP:0002474)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Receptive language delay (HP:0010863)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Motor delay (HP:0001270)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Seizure (HP:0001250)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Short stature (HP:0004322)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Nasal flaring (HP:0030863)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: High forehead (HP:0000348)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Short philtrum (HP:0000322)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Triangular face (HP:0000325)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAP1GDS1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ALFADHEL SYNDROME (OMIM:620655)
Gene: RAPSN
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: RAPSN
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: RAPSN
Phenotype: Hypotonia (HP:0001252)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 2 (OMIM:618388)
Gene: RAPSN
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616326)
Gene: RAPSN
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: RAPSN
Phenotype: Falls (HP:0002527)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616326)
Gene: RAPSN
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: RAPSN
Phenotype: Flexion contracture (HP:0001371)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 2 (OMIM:618388)