TaoMedAI/RareMedData huggingface dataset:
Gene: PRPS1
Phenotype: Aplasia/Hypoplasia of the optic nerve (HP:0008058)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Kyphosis (HP:0002808)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: High palate (HP:0000218)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Severe failure to thrive (HP:0001525)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Death in infancy (HP:0001522)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Growth delay (HP:0001510)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Appendicular hypotonia (HP:0012389)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Low-set ears (HP:0000369)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Triangular face (HP:0000325)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Undetectable visual evoked potentials (HP:0007965)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, X-LINKED 1 (OMIM:304500)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Strabismus (HP:0000486)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Mild PRPS1 superactivity; Mild phosphoribosylpyrophosphate synthetase superactivity; Mild PRPP synthetase superactivity (ORPHA:411536)
Gene: PRPS1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Deeply set eye (HP:0000490)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Delayed myelination (HP:0012448)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Abnormal erythrocyte enzyme concentration or activity (HP:0030272)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Convex nasal ridge (HP:0000444)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CMTX5; X-linked Charcot-Marie-Tooth disease type 5; CMT5X (ORPHA:99014)
Gene: PRPS1
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, X-LINKED RECESSIVE, 5 (OMIM:311070)
Gene: PRPS1
Phenotype: Ptosis (HP:0000508)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Visual impairment (HP:0000505)
Associated disease: Lethal ataxia with deafness and optic atrophy; Lethal ataxia with hearing loss and optic atrophy; Arts syndrome (ORPHA:1187)
Gene: PRPS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Glaucoma (HP:0000501)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Exotropia (HP:0000577)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Visual loss (HP:0000572)
Associated disease: ARTS SYNDROME (OMIM:301835)
Gene: PRPS1
Phenotype: Hypermetropia (HP:0000540)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRPS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome; X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency (ORPHA:423479)
Gene: PRPS1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRPS1
Phenotype: Myopia (HP:0000545)
Associated disease: Severe phosphoribosylpyrophosphate synthetase superactivity; Severe PRPS1 superactivity; Severe PRPP synthetase superactivity (ORPHA:411543)
Gene: PRPS1
Phenotype: Myopia (HP:0000545)
Associated disease: PHOSPHORIBOSYLPYROPHOSPHATE SYNTHETASE SUPERACTIVITY (OMIM:300661)
Gene: PRSS1
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Fever (HP:0001945)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Pancreatic pseudocyst (HP:0005206)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS1
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Steatorrhea (HP:0002570)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Pleural effusion (HP:0002202)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Abnormal thrombosis (HP:0001977)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Fever (HP:0001945)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Pancreatic calcification (HP:0005213)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Pancreatic pseudocyst (HP:0005206)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Pancreatitis (HP:0001733)
Associated disease: PANCREATITIS, HEREDITARY (OMIM:167800)
Gene: PRSS2
Phenotype: Splanchnic vein thrombosis (HP:0030247)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: PRSS2
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Hereditary chronic pancreatitis (ORPHA:676)
Gene: MASP1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Single interphalangeal crease of fifth finger (HP:0006216)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Periumbilical depression (HP:6000808)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Cleft palate (HP:0000175)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Cleft lip (HP:0410030)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Large fleshy ears (HP:0002265)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Abnormality of the abdominal wall (HP:0004298)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Synophrys (HP:0000664)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Lambdoidal craniosynostosis (HP:0004443)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Coronal craniosynostosis (HP:0004440)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Prominent coccyx (HP:0040016)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Short 5th finger (HP:0009237)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Abnormal nasal morphology (HP:0005105)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Caudal appendage (HP:0002825)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Caudal appendage (HP:0002825)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Limited pronation/supination of forearm (HP:0006394)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Diastasis recti (HP:0001540)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Diastasis recti (HP:0001540)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Omphalocele (HP:0001539)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Growth delay (HP:0001510)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Abnormal pinna morphology (HP:0000377)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Low-set ears (HP:0000369)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)
Gene: MASP1
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Malpuech-Michels-Mingarelli-Carnevale syndrome; 3MC syndrome; Craniofacial-ulnar-renal syndrome (ORPHA:293843)
Gene: MASP1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: 3MC SYNDROME 1 (OMIM:257920)