TaoMedAI/RareMedData huggingface dataset:
Gene: DDB2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Dry skin (HP:0000958)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Thin skin (HP:0000963)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Alopecia (HP:0001596)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Arthralgia (HP:0002829)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Melanoma (HP:0002861)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Melanoma (HP:0002861)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Fatigue (HP:0012378)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Blepharitis (HP:0000498)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Strabismus (HP:0000486)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Keratitis (HP:0000491)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Keratitis (HP:0000491)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDB2
Phenotype: Cataract (HP:0000518)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Conjunctival telangiectasia (HP:0000524)
Associated disease: Xeroderma pigmentosum (ORPHA:910)
Gene: DDB2
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Gene: DDC
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Decreased CSF homovanillic acid concentration (HP:0003785)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Limb dystonia (HP:0002451)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Poor head control (HP:0002421)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Motor delay (HP:0001270)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Lethargy (HP:0001254)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Seizure (HP:0001250)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Dystonia (HP:0001332)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Tremor (HP:0001337)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Myoclonus (HP:0001336)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Hypotension (HP:0002615)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Hypotension (HP:0002615)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Decreased CSF 5-hydroxyindolacetic acid concentration (HP:0025455)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Constipation (HP:0002019)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Constipation (HP:0002019)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Diarrhea (HP:0002014)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Diarrhea (HP:0002014)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Dysphagia (HP:0002015)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Temperature instability (HP:0005968)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Intermittent hypothermia (HP:0005964)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Babinski sign (HP:0003487)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Babinski sign (HP:0003487)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Apnea (HP:0002104)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Infantile onset (HP:0003593)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Limb tremor (HP:0200085)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Hypokinesia (HP:0002375)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Diminished movement (HP:0002374)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Drooling (HP:0002307)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Athetosis (HP:0002305)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Elevated urinary vanillactic acid level (HP:6001002)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Blepharospasm (HP:0000643)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Miosis (HP:0000616)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Miosis (HP:0000616)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Short stature (HP:0004322)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Irritability (HP:0000737)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Irritability (HP:0000737)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Emotional lability (HP:0000712)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Increased circulating prolactin concentration (HP:0000870)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Joint contracture (HP:0034392)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Reduced circulating aromatic L-amino acid decarboxylase activity (HP:6000037)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Abnormality of the face (HP:0000271)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Cardiorespiratory arrest (HP:0006543)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Torticollis (HP:0000473)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Nasal congestion (HP:0001742)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Nasal congestion (HP:0001742)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: DDC
Phenotype: Ptosis (HP:0000508)
Associated disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Gene: DDC
Phenotype: Ptosis (HP:0000508)
Associated disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Gene: AKR1C2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C2
Phenotype: Male pseudohermaphroditism (HP:0000037)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: AKR1C2
Phenotype: Sex reversal (HP:0012245)
Associated disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Gene: DDIT3
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: DDIT3
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: DDIT3
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Gene: DDOST
Phenotype: Oromotor apraxia (HP:0007301)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Seizure (HP:0001250)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Tremor (HP:0001337)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Recurrent ear infections (HP:0410018)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Decreased liver function (HP:0001410)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Constipation (HP:0002019)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Short stature (HP:0004322)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Lipodystrophy (HP:0009125)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Primary hypothyroidism (HP:0000832)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Dry skin (HP:0000958)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Osteopenia (HP:0000938)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Osteopenia (HP:0000938)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Chronic constipation (HP:0012450)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Gene: DDOST
Phenotype: Nephrotic range proteinuria (HP:0012593)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDOST
Phenotype: Esotropia (HP:0000565)
Associated disease: CDG syndrome type Ir; CDG-Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; DDOST-CDG (ORPHA:300536)
Gene: DDX3X
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Gene: DDX3X
Phenotype: Anotia (HP:0009892)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Gene: DDX3X
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: X-linked intellectual disability-hypotonia-movement disorder syndrome (ORPHA:457260)
Gene: DDX3X
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Gene: DDX3X
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Gene: DDX3X
Phenotype: Seizure (HP:0001250)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)
Gene: DDX3X
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE (OMIM:300958)
Gene: DDX3X
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-hypotonia-movement disorder syndrome (ORPHA:457260)
Gene: DDX3X
Phenotype: Hypotonia (HP:0001252)
Associated disease: Toriello-Carey syndrome; Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome (ORPHA:3338)