TaoMedAI/RareMedData huggingface dataset:
Gene: MED25
Phenotype: Constipation (HP:0002019)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Deviation of the 2nd finger (HP:0009468)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Contracture of the proximal interphalangeal joint of the 3rd finger (HP:0009471)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Infantile onset (HP:0003593)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Congenital onset (HP:0003577)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Adult onset (HP:0003581)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Male urethral meatus stenosis (HP:0032077)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Dilated third ventricle (HP:0007082)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: High hypermetropia (HP:0008499)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Amblyopia (HP:0000646)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Broad distal phalanx of the toes (HP:0010186)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Sparse hair (HP:0008070)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Left superior vena cava draining to coronary sinus (HP:0011670)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Epicanthus (HP:0000286)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Epicanthus (HP:0000286)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Retrognathia (HP:0000278)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Retrognathia (HP:0000278)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Kyphosis (HP:0002808)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Kyphosis (HP:0002808)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Microcephaly (HP:0000252)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Microcephaly (HP:0000252)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Furrowed tongue (HP:0000221)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: High palate (HP:0000218)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Gene: MED25
Phenotype: Low-set ears (HP:0000369)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Low-set ears (HP:0000369)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: High forehead (HP:0000348)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Short philtrum (HP:0000322)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Short philtrum (HP:0000322)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Strabismus (HP:0000486)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Strabismus (HP:0000486)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Microcornea (HP:0000482)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Microcornea (HP:0000482)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Anteverted nares (HP:0000463)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Pes cavus (HP:0001761)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Cataract (HP:0000518)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Ptosis (HP:0000508)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: MED25
Phenotype: Ptosis (HP:0000508)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Microphthalmia (HP:0000568)
Associated disease: BASEL-VANAGAITE-SMIRIN-YOSEF SYNDROME (OMIM:616449)
Gene: MED25
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Basel-Vanagaite-Smirin-Yosef syndrome (ORPHA:464738)
Gene: SHARPIN
Phenotype: Colitis (HP:0002583)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Hematochezia (HP:0002573)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Arthritis (HP:0001369)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Parotitis (HP:0011850)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Infantile onset (HP:0003593)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Elevated erythrocyte sedimentation rate (HP:0003565)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Increased total leukocyte count (HP:0001974)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Recurrent fever (HP:0001954)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Childhood onset (HP:0011463)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Autoimmune antibody positivity (HP:0030057)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Increased hepatic glycogen content (HP:0006568)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: SHARPIN
Phenotype: Splenomegaly (HP:0001744)
Associated disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Gene: LAS1L
Phenotype: Tapered finger (HP:0001182)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Tapered finger (HP:0001182)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Poor speech (HP:0002465)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Uplifted earlobe (HP:0009909)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Microtia (HP:0008551)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Stuttering (HP:0025268)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Seizure (HP:0001250)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Specific learning disability (HP:0001328)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Absent speech (HP:0001344)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Malar prominence (HP:0010620)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Small hand (HP:0200055)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Truncal obesity (HP:0001956)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Gynecomastia (HP:0000771)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Gynecomastia (HP:0000771)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Emotional lability (HP:0000712)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Emotional lability (HP:0000712)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Obesity (HP:0001513)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Micrognathia (HP:0000347)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Short foot (HP:0001773)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Pes planus (HP:0001763)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Pes planus (HP:0001763)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Pes cavus (HP:0001761)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: LAS1L
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: WILSON-TURNER X-LINKED MENTAL RETARDATION SYNDROME (OMIM:309585)
Gene: LAS1L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: X-linked intellectual disability-gynecomastia-obesity syndrome; Wilson-Turner syndrome; WTS (ORPHA:3459)
Gene: PITPNM3
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Macular degeneration (HP:0000608)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Central scotoma (HP:0000603)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)