TaoMedAI/RareMedData huggingface dataset:
Gene: LACC1
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Fever (HP:0001945)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Juvenile rheumatoid arthritis (HP:0005681)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Childhood onset (HP:0011463)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Quotidian fever (HP:0033087)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Increased circulating ferritin concentration (HP:0003281)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Skin rash (HP:0000988)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Skin rash (HP:0000988)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: LACC1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Arthralgia (HP:0002829)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Growth delay (HP:0001510)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Autoimmunity (HP:0002960)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Pericarditis (HP:0001701)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Elevated circulating C-reactive protein concentration (HP:0011227)
Associated disease: Systemic-onset juvenile idiopathic arthritis; Still disease; Systemic-onset JIA (ORPHA:85414)
Gene: LACC1
Phenotype: Thrombocytosis (HP:0001894)
Associated disease: JUVENILE ARTHRITIS (OMIM:618795)
Gene: B3GLCT
Phenotype: Broad palm (HP:0001169)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Syndactyly (HP:0001159)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Microtia, second degree (HP:0008569)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Microtia, second degree (HP:0008569)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Intestinal fistula (HP:0100819)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Seizure (HP:0001250)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypoplasia of the vagina (HP:0008726)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Renal hypoplasia/aplasia (HP:0008678)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Ureteral duplication (HP:0000073)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Renal duplication (HP:0000075)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypospadias (HP:0000047)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypospadias (HP:0000047)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Disproportionate short-limb short stature (HP:0008873)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Multicystic kidney dysplasia (HP:0000003)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Scoliosis (HP:0002650)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Abnormal pelvic girdle bone morphology (HP:0002644)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Rhizomelia (HP:0008905)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Rhizomelia (HP:0008905)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cleft palate (HP:0000175)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cleft palate (HP:0000175)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Wide mouth (HP:0000154)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Anal atresia (HP:0002023)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short columella (HP:0002000)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Abnormal pulmonary vein morphology (HP:0030968)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Facial hypertrichosis (HP:0002219)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short metatarsal (HP:0010743)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short palm (HP:0004279)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Nystagmus (HP:0000639)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Iris coloboma (HP:0000612)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short metacarpal (HP:0010049)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Peters anomaly (HP:0000659)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Peters anomaly (HP:0000659)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Decreased body weight (HP:0004325)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Short stature (HP:0004322)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Bilobate gallbladder (HP:0005608)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short nose (HP:0003196)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Preauricular pit (HP:0004467)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Preauricular pit (HP:0004467)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Square pelvis bone (HP:0003278)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Long face (HP:0000276)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Long face (HP:0000276)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Microcephaly (HP:0000252)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Short lingual frenulum (HP:0000200)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Diastasis recti (HP:0001540)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Anterior chamber synechiae (HP:0007833)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Conical incisor (HP:0011065)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Bicuspid pulmonary valve (HP:0005182)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Low-set ears (HP:0000369)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Long philtrum (HP:0000343)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Long philtrum (HP:0000343)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Limited elbow movement (HP:0002996)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Micrognathia (HP:0000347)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)
Gene: B3GLCT
Phenotype: Micrognathia (HP:0000347)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Micromelia (HP:0002983)
Associated disease: Krause-van Schooneveld-Kivlin syndrome; Krause-Kivlin syndrome; Peters plus syndrome; Peters anomaly with short limb dwarfism (ORPHA:709)
Gene: B3GLCT
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PETERS-PLUS SYNDROME (OMIM:261540)