TaoMedAI/RareMedData huggingface dataset:
Gene: CDH11
Phenotype: Nevus (HP:0003764)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Seizure (HP:0001250)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Absent nipple (HP:0002561)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Premature glabellar skin wrinkling (HP:6000744)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Absent external genitalia (HP:0000042)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Micropenis (HP:0000054)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Hypospadias (HP:0000047)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Hypospadias (HP:0000047)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Thickened calvaria (HP:0002684)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Abnormal sella turcica morphology (HP:0002679)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Cleft palate (HP:0000175)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Anal stenosis (HP:0002025)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Midface retrusion (HP:0011800)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Cervical C2/C3 vertebral fusion (HP:0004602)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Thoracolumbar kyphoscoliosis (HP:0003423)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Shortening of all phalanges of fingers (HP:0011910)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Chin with horizontal crease (HP:0011823)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Congenital onset (HP:0003577)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Congenital onset (HP:0003577)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Advanced pneumatization of the mastoid process (HP:0010724)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Large earlobe (HP:0009748)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Exodeviation (HP:0020049)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Abnormality of the vertebral spinous processes (HP:0008516)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Amelia involving the lower limbs (HP:0009818)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Upper limb peromelia (HP:0009814)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Blepharochalasis (HP:0010749)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Low hanging columella (HP:0009765)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Upper eyelid coloboma (HP:0000636)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Eyelid coloboma (HP:0000625)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Periorbital wrinkles (HP:0000607)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Microdontia (HP:0000691)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Carious teeth (HP:0000670)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Synophrys (HP:0000664)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Synophrys (HP:0000664)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Penoscrotal hypospadias (HP:0000808)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Abnormality of the anus (HP:0004378)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Autistic behavior (HP:0000729)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Abnormal dentin morphology (HP:0010299)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Short nose (HP:0003196)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Broad philtrum (HP:0000289)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Malar flattening (HP:0000272)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Multiple impacted teeth (HP:0001571)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Microcephaly (HP:0000252)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: High palate (HP:0000218)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: High palate (HP:0000218)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Bladder exstrophy (HP:0002836)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Rootless teeth (HP:0011072)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Impacted tooth (HP:0011079)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Flat face (HP:0012368)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Premature loss of teeth (HP:0006480)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Agenesis of incisor (HP:0006485)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Low-set ears (HP:0000369)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Narrow forehead (HP:0000341)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Long philtrum (HP:0000343)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Broad forehead (HP:0000337)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: High forehead (HP:0000348)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Short philtrum (HP:0000322)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Abnormal midface morphology (HP:0000309)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Pointed chin (HP:0000307)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Pointed chin (HP:0000307)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Strabismus (HP:0000486)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Strabismus (HP:0000486)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Megalocornea (HP:0000485)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Bifid nasal tip (HP:0000456)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Short neck (HP:0000470)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Wide nose (HP:0000445)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Bulbous nose (HP:0000414)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Cataract (HP:0000518)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Proptosis (HP:0000520)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Proptosis (HP:0000520)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Proptosis (HP:0000520)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Telecanthus (HP:0000506)
Associated disease: BSG syndrome; Branchioskeletogenital syndrome; Elsahy-Waters syndrome (ORPHA:1299)
Gene: CDH11
Phenotype: Ptosis (HP:0000508)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Glaucoma (HP:0000501)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH11
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TEEBI HYPERTELORISM SYNDROME 2 (OMIM:619736)
Gene: CDH11
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: ELSAHY-WATERS SYNDROME (OMIM:211380)
Gene: CDH15
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
Gene: CDH15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
Gene: CDH15
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
Gene: CDH15
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 3 (OMIM:612580)
Gene: CDK4
Phenotype: Nevus (HP:0003764)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: CDK4
Phenotype: Cutaneous melanoma (HP:0012056)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Gene: CDK4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Gene: CDK4
Phenotype: Freckling (HP:0001480)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Subcutaneous nodule (HP:0001482)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: CDK4
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Abnormality of the lymphatic system (HP:0100763)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Numerous nevi (HP:0001054)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Gene: CDK4
Phenotype: Atypical nevus (HP:0001062)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Gene: CDK4
Phenotype: Atypical nevi in non-sun exposed areas (HP:0001074)
Associated disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 3 (OMIM:609048)
Gene: CDK4
Phenotype: Neoplasm of the breast (HP:0100013)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Dry skin (HP:0000958)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: WDLS; Atypical lipoma; Well-differentiated liposarcoma; Atypical lipomatous tumor; ALT (ORPHA:99971)
Gene: CDK4
Phenotype: Neoplasm of the pancreas (HP:0002894)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Melanoma (HP:0002861)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Retinopathy (HP:0000488)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK4
Phenotype: Neoplasm of the stomach (HP:0006753)
Associated disease: Familial melanoma (ORPHA:618)
Gene: CDK5
Phenotype: Hand clenching (HP:0001188)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: EEG with burst suppression (HP:0010851)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Areflexia (HP:0001284)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Seizure (HP:0001250)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Neonatal death (HP:0003811)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Abnormal activity of mitochondrial respiratory chain (HP:0011922)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Congenital onset (HP:0003577)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Lymphedema (HP:0001004)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Hirsutism (HP:0001007)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Agyria (HP:0031882)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Full cheeks (HP:0000293)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Death in infancy (HP:0001522)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)
Gene: CDK5
Phenotype: Small forehead (HP:0000350)
Associated disease: LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA (OMIM:616342)