Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
LIM homeobox protein 8
Synonyms:
L3,  Lhx7

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Lhx8 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Lhx8 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Syngnathia
Cleft palate OMIM:119550
Premature Ovarian Failure 5
Primary amenorrhea, Secondary amenorrhea, Reduced antral follicle count, Premature ovarian insuff... OMIM:611548
Ring Chromosome Y Syndrome
Abnormality of the female genitalia, Unilateral cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:261529
Premature Ovarian Failure 6
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612310
Perrault Syndrome 6
Irregular menstruation, Primary amenorrhea, Streak ovary, Secondary amenorrhea, Premature ovarian... OMIM:617565
Ovarian Dysgenesis 2
Primary amenorrhea, Delayed puberty, Gonadal hypoplasia, Abnormality of the uterus, Secondary ame... OMIM:300510
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency OMIM:300511
Premature Ovarian Failure 10
Hypothyroidism, Primary amenorrhea, Azoospermia, Elevated circulating luteinizing hormone level, ... OMIM:612885
Ovarian Dysgenesis 9
Decreased antimullerian hormone level, Primary amenorrhea, Elevated circulating luteinizing hormo... OMIM:619665
Premature Ovarian Failure 18
Decreased antimullerian hormone level, Irregular menstruation, Elevated circulating luteinizing h... OMIM:619203
Omphalocele-Cleft Palate Syndrome, Lethal
Death in infancy, Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Van Der Woude Syndrome 2
Anodontia, Cleft upper lip, Cleft palate OMIM:606713
Ovarian Dysgenesis 7
Delayed puberty, Hypoplasia of the uterus, Primary amenorrhea OMIM:618117
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Female hypogonadism, Amenorrhea, Menorrhagia, Oligomenorrhea ORPHA:397685
Premature Ovarian Failure 3
Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus OMIM:608996
Hypergonadotropic Hypogonadism And Partial Alopecia
Hypergonadotropic hypogonadism, Streak ovary OMIM:241090
46,Xx Testicular Disorder Of Sex Development
Ambiguous genitalia, Male hypogonadism, Polycystic ovaries, Decreased testicular size ORPHA:393
Isochromosomy Yp
Primary gonadal insufficiency, Azoospermia, Male infertility, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 18
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617576
Spermatogenic Failure 20
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617593
Spermatogenic Failure 19
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:617592
Spermatogenic Failure 35
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618341
Spermatogenic Failure 33
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618152
Spermatogenic Failure 34
Absent sperm flagella, Short sperm flagella, Coiled sperm flagella, Infertility OMIM:618153
Endometriosis, Susceptibility To, 1
Endometriosis, Decreased fertility, Dysmenorrhea OMIM:131200
Premature Ovarian Failure 8
Primary amenorrhea, Elevated circulating luteinizing hormone level, Decreased serum estradiol, Ov... OMIM:615723
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Partial Chromosome Y Deletion
Cryptorchidism, Abnormal spermatogenesis, Non-obstructive azoospermia, Oligospermia, Male inferti... ORPHA:1646
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testi... OMIM:619528
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Premature ovarian insufficiency, Hypoplasia of the ovary OMIM:609993
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Spermatogenic Failure 50
Azoospermia, Spermatogenesis maturation arrest, Male infertility, Decreased testicular size OMIM:619145
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Premature ovarian insufficiency ORPHA:75325
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Delayed puberty, Primary amenorrhea OMIM:300604
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorchidism, Micropenis, D... OMIM:614841
Premature Ovarian Failure 1
Premature ovarian insufficiency, Increased circulating gonadotropin level, Irregular menstruation OMIM:311360
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Abnormal meiosis, Oocyte arrest at metaphase I ORPHA:488191
Orofacial Cleft 1
Cleft upper lip, Cleft palate OMIM:119530
Orofacial Cleft 5
Cleft upper lip, Cleft palate OMIM:608874
Orofacial Cleft 6, Susceptibility To
Cleft upper lip, Cleft palate OMIM:608864
Orofacial Cleft 10
Unilateral cleft palate, Unilateral cleft lip OMIM:613705
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Hypoplasia of the uterus, Infertility, Primary amenorrhea, Gonadal dysgenesis with female appeara... ORPHA:168563
Isochromosomy Yq
Primary gonadal insufficiency, Varicocele, Azoospermia, Decreased testicular size, Male infertili... ORPHA:98798
Palatopharyngeal Incompetence
Cleft palate, Velopharyngeal insufficiency OMIM:167500
Premature Ovarian Failure 7
Hypoplasia of the uterus, Primary amenorrhea, Elevated circulating luteinizing hormone level, Sec... OMIM:612964
Oocyte Maturation Defect 9
Female infertility, Oocyte arrest at metaphase I OMIM:619011
Premature Ovarian Failure 9
Premature ovarian insufficiency, Increased circulating gonadotropin level, Amenorrhea OMIM:615724
Spermatogenic Failure 10
Abnormal sperm morphology, Infertility OMIM:614822
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Primary amenorrhea, Cryptorchidism, Micro... OMIM:618841
Spermatogenic Failure 62
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Early spermatogenesis maturation arrest, Male infertility OMIM:619672
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Testicular Regression Syndrome
Absent testis, Abnormal morphology of female internal genitalia, Aplasia/Hypoplasia of the testes... ORPHA:983
Spermatogenic Failure 48
Azoospermia, Oligospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619108
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Primary amenorrhea OMIM:617690
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xy Sex Reversal 11
Decreased antimullerian hormone level, Aplasia of the uterus, Primary amenorrhea, Elevated circul... OMIM:273250
Oocyte Maturation Defect 2
Female infertility, Oocyte arrest at metaphase I OMIM:616780
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anencephaly, Median cleft palate, Median cleft lip OMIM:619452
Spermatogenic Failure 25
Azoospermia, Cryptozoospermia, Decreased testicular size OMIM:617960
Spermatogenic Failure 32
Azoospermia, Infertility OMIM:618115
Spermatogenic Failure 23
Azoospermia, Infertility OMIM:617707
Spermatogenic Failure 22
Azoospermia, Infertility OMIM:617706
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Gonadotropin deficiency, Hypogonadotropic hypogonadism, Primary amenorrhea, Azoospermia, Cryptorc... OMIM:614837
Ankyloblepharon Filiforme Adnatum And Cleft Palate
Cleft upper lip, Cleft palate OMIM:106250
Gonadoblastoma
Abnormality of the ovary, Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal cal... ORPHA:206484
46,Xy Sex Reversal 7
Abnormality of the epididymis, Hypoplasia of the uterus, Primary amenorrhea, Gonadal dysgenesis, ... OMIM:233420
Spermatogenic Failure 26
Infertility, Acephalic spermatozoa OMIM:617961
Perrault Syndrome 4
Primary amenorrhea, Decreased serum estradiol, Bicornuate uterus, Secondary amenorrhea, Premature... OMIM:615300
Mucocutaneous Ulceration, Chronic
Vaginal mucosal ulceration OMIM:618287
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Tooth agenesis, Cleft palate, Non-midline cleft lip ORPHA:1074
Premature Ovarian Failure 16
Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Decreas... OMIM:618723
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Pierre Robin Syndrome And Oligodactyly
Pierre-Robin sequence, Cleft palate OMIM:172880
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Cryptorchidism, Abnormal vagina morphology, Gonadoblastoma, Abnormality of the uterus, Streak ova... OMIM:194072
Oocyte Maturation Defect 8
Female infertility OMIM:619009
Congenital Laryngomalacia
Cleft palate, Non-midline cleft lip ORPHA:2373
Oocyte Maturation Defect 10
Female infertility OMIM:619176
Leydig Cell Hypoplasia
Hyoplasia of the Leydig cells, Primary amenorrhea, Cryptorchidism, Abnormal external genitalia, M... ORPHA:755
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Hypoplasia of the uterus OMIM:614842
Oocyte Maturation Defect 12
Female infertility OMIM:619697
Spermatogenic Failure 16
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 21
Infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Uvula, Bifid
Bifid uvula OMIM:192100
Cleft Soft Palate
Cleft soft palate OMIM:119570
46,Xx Gonadal Dysgenesis
Primary amenorrhea, Aplasia/hypoplasia of the uterus, Decreased serum estradiol, Secondary amenor... ORPHA:243
Isolated Follicle Stimulating Hormone Deficiency
Gonadotropin deficiency, Abnormal sperm morphology, Hypogonadotropic hypogonadism, Female hypogon... ORPHA:52901
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Normosmic Congenital Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Female hypogonadism, Primary amenorrhea, Delayed puberty, Cryptorc... ORPHA:432
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Diethylstilbestrol Syndrome
Epididymal cyst, Decreased fertility in females, Cryptorchidism, Micropenis, Abnormality of the u... ORPHA:1916
46,Xy Partial Gonadal Dysgenesis
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Decreased ser... ORPHA:251510
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Frasier Syndrome
Primary amenorrhea, Gonadal dysgenesis with female appearance, male, Decreased serum estradiol, G... ORPHA:347
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Azoospermia, Abnormal spermatogenesis, Non-obstructive azoospermia, Obstructive azoospermia, Incr... ORPHA:399805
Orofacial Cleft 13
Cleft soft palate, Oligodontia OMIM:613857
Cleft Palate, Isolated
Anterior open-bite malocclusion, Increased overbite, Cleft palate, Gingival overgrowth OMIM:119540
Satoyoshi Syndrome
Amenorrhea, Abnormality of the ovary, Abnormality of the uterus, Nephrogenic diabetes insipidus, ... ORPHA:3130
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate ORPHA:2016
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Female infertility, Premature ovarian insufficiency, Mitochondrial hypertrophy OMIM:619518
Perrault Syndrome 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:614129
Oocyte Maturation Defect 11
Female infertility OMIM:619643
Oocyte Maturation Defect 7
Female infertility OMIM:618550
Oocyte Maturation Defect 6
Female infertility OMIM:618353
Preimplantation Embryonic Lethality 1
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte Maturation Defect 1
Female infertility OMIM:615774
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Short philtrum, Abnormality of the dentition, Thick upper lip vermilion, Thin upper lip vermilion... OMIM:226440
Partial Androgen Insensitivity Syndrome
Increased antimullerian hormone level, Male sexual dysfunction, Primary amenorrhea, Elevated circ... ORPHA:90797
46,Xx Ovotesticular Disorder Of Sex Development
Small scrotum, Polycystic ovaries, Abnormal morphology of female internal genitalia, Cryptorchidi... ORPHA:2138
Weaver-Williams Syndrome
Microcephaly, Decreased body weight, Cleft palate, Narrow mouth ORPHA:3448
Obesity Due To Congenital Leptin Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased serum... ORPHA:66628
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter, Premature ovarian insufficiency, Secondary amenorrhea OMIM:617175
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Premature Ovarian Failure 17
Decreased antimullerian hormone level, Elevated circulating luteinizing hormone level, Decreased ... OMIM:619146
Isolated Childhood Apraxia Of Speech
Caudate atrophy, Abnormal caudate nucleus morphology, Drooling, High, narrow palate, Submucous cl... ORPHA:209908
Obesity Due To Leptin Receptor Gene Deficiency
Primary amenorrhea, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased testi... ORPHA:179494
Spastic Paraplegia 81, Autosomal Recessive
Microcephaly, Bifid uvula, Cleft palate, Periventricular white matter hyperintensities OMIM:618768
Spermatogenic Failure, X-Linked, 2
Azoospermia, Male infertility, Testicular atrophy OMIM:309120
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Decreased ... ORPHA:2235
Cleft Palate, Deafness, And Oligodontia
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition OMIM:216300
Complete Androgen Insensitivity Syndrome
Abnormality of the uterine cervix, Aplasia of the uterus, Increased antimullerian hormone level, ... ORPHA:99429
Mullerian Aplasia And Hyperandrogenism
Aplasia of the uterus, Amenorrhea, Aplasia of the vagina, Aplasia/Hypoplasia of the fallopian tub... OMIM:158330
Xp22.3 Microdeletion Syndrome
Secondary amenorrhea, Decreased fertility, Hypogonadotropic hypogonadism, Polycystic ovaries ORPHA:1643
2q33.1 deletion syndrome
High palate, Cleft palate DECIPHER:51
Aromatase Deficiency
Female pseudohermaphroditism, Primary amenorrhea, Hypergonadotropic hypogonadism, Ovarian cyst OMIM:613546
Fowler Urethral Sphincter Dysfunction Syndrome
Amenorrhea, Polycystic ovaries, Abnormality of the ovary, Menorrhagia, Abnormality of the urethra... ORPHA:2795
Androgen Insensitivity Syndrome
Abnormal morphology of female internal genitalia, Cryptorchidism, Testicular neoplasm, Aplasia/hy... ORPHA:754
Congenital Velopharyngeal Incompetence
Abnormal palate morphology, Velopharyngeal insufficiency ORPHA:2291
Hydatidiform Mole
Menometrorrhagia, Hyperthyroidism, Enlarged uterus, Miscarriage ORPHA:99927
46,Xy Sex Reversal 3
Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Penoscrotal hypospadias... OMIM:612965
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Partial vaginal septum, Abnormality of the uterine cervix, Dysmenorrhea, Hydrocolpos, Uterus dide... ORPHA:3411
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Submucous cleft hard palate, Microcephaly, Bifid uvula, Cleft palate ORPHA:2521
Ovarian Dysgenesis 6
Hypoplasia of the uterus OMIM:618078
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal sperm morphology, Non-obstructive azoospermia, Abnormal ... ORPHA:399808
Ovarian Fibrothecoma
Abnormality of the endometrium, Abnormal circulating hormone concentration, Abnormality of the ov... ORPHA:314478
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Cleft soft palate, Unilateral cleft lip, Hydrocephalus, Cleft palate ORPHA:2736
Estrogen Resistance
Hypoplasia of the uterus, Primary amenorrhea, Hyperinsulinemia OMIM:615363
Hereditary Breast And Ovarian Cancer Syndrome
Abnormal fallopian tube morphology, Neoplasm of the pancreas, Ovarian neoplasm, Prostate cancer ORPHA:145
Spinocerebellar Ataxia 32
Azoospermia, Infertility, Testicular atrophy OMIM:613909
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Testicular microlithiasis, Azoospermia, Micropenis, Abnormal sperm... OMIM:228300
Mayer-Rokitansky-Kuster-Hauser Syndrome
Aplasia of the vagina, Hypoplasia of the uterus, Amenorrhea OMIM:277000
Intellectual Developmental Disorder, X-Linked 90
High palate, Bifid uvula OMIM:300850
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Infertility, Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration... OMIM:229070
Cleft Velum
Cleft soft palate, Velopharyngeal insufficiency ORPHA:99772
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Amenorrhea, Female infertility, Premature ovarian insufficiency, Increase... OMIM:110100
Tetragametic Chimerism
Perineal hypospadias, Ovotestis, Cryptorchidism, Abnormality of the ovary, Micropenis, True herma... ORPHA:199310
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Irregular menstruation, Primary amenorrhea, Primary adrenal insufficiency, Elevated circulating l... ORPHA:90793
Ectrodactyly-Cleft Palate Syndrome
Cleft palate OMIM:129830
Auriculocondylar Syndrome 3
Bifid uvula, Glossoptosis OMIM:615706
Nephrosis With Deafness And Urinary Tract And Digital Malformations
Bifid uvula OMIM:256200
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
46,Xy Disorder Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Infertility, Hypothyroidism, Cryptorchidism, Male pseudohermaphrod... ORPHA:752
Orofaciodigital Syndrome Type 5
Accessory oral frenulum, Bifid uvula, Agenesis of corpus callosum, Non-midline cleft lip, Enamel ... ORPHA:2919
Adducted Thumbs Syndrome
High palate, Cerebral dysmyelination, Velopharyngeal insufficiency, High, narrow palate, Microcep... OMIM:201550
Bifid Uvula
Submucous cleft soft palate, Bifid uvula, Cleft lip ORPHA:99771
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Infertility, Primary gonadal insufficiency, Primary amenorrhea, Delayed pu... ORPHA:2232
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Microcephaly, Bifid uvula, Cleft palate ORPHA:506353
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Aromatase Deficiency
Primary amenorrhea, Cryptorchidism, Ambiguous genitalia, female, Enlarged polycystic ovaries, Mac... ORPHA:91
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Bifid uvula ORPHA:2669
Uterus Bicornis Bicollis With Partial Vaginal Septum And Unilateral Hematocolpos With Ipsilateral Renal Agenesis
Partial vaginal septum, Uterus didelphys, Hematocolpos OMIM:192050
Coffin-Siris Syndrome 11
High palate, Bifid uvula, Agenesis of corpus callosum, Cleft soft palate, Esophageal atresia, Dow... OMIM:618779
Mucopolysaccharidosis, Type Ix
Submucous cleft hard palate, Bifid uvula OMIM:601492
Satb2-Associated Syndrome Due To A Pathogenic Variant
High palate, Bifid uvula, Long philtrum, Drooling, Abnormality of the dentition, Celiac disease, ... ORPHA:576283
Bencze Syndrome
Submucous cleft hard palate, Open bite ORPHA:1241
46,Xx Sex Reversal 2
Perineal hypospadias, Small scrotum, Ovotestis, Hypoplasia of the vagina, Azoospermia, Micropenis... OMIM:278850
Xeroderma Pigmentosum, Autosomal Dominant, Mild
Defective DNA repair after ultraviolet radiation damage OMIM:194400
Diffuse Gastric And Lobular Breast Cancer Syndrome
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate OMIM:137215
Van Der Woude Syndrome
Abnormal salivary gland morphology, Cleft upper lip, Lower lip pit, Hypodontia, Lip pit, Cleft pa... ORPHA:888
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Cleft lip, Pursed lips, Thin vermilion border, Cleft palate OMIM:619110
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Primary amenorrhea, Cryptorchidism, Elevated circulating luteinizing hormone level, Abnormal circ... ORPHA:90796
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypogonadism, Hypoplasia of the ovary ORPHA:110
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Cognitive impairment, Cleft palate, Non-midline cleft lip ORPHA:1484
Hymen, Imperforate
Hydrocolpos, Amenorrhea, Hematocolpos, Imperforate hymen OMIM:237100
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Azoospermia, Bicornuate uterus, Hypoplasia of the uterus OMIM:601076
Hydrolethalus
Bifid uvula, Agenesis of corpus callosum, Unilateral cleft lip, Anencephaly, Submucous cleft hard... ORPHA:2189
Testicular Agenesis
Absent testis, Micropenis, Decreased serum testosterone concentration, Increased circulating gona... ORPHA:325124
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
Trochlea Of The Humerus, Aplasia Of
Cleft palate OMIM:191000
Temple Syndrome
Short philtrum, High palate, Bifid uvula, Hydrocephalus, Cleft palate OMIM:616222
Amish Lethal Microcephaly
Agenesis of corpus callosum, Cleft soft palate, Microcephaly, Lissencephaly, Spina bifida, Death ... ORPHA:99742
Androgen Insensitivity, Partial
Infertility, Perineal hypospadias, Azoospermia, Cryptorchidism, Micropenis, Male pseudohermaphrod... OMIM:312300
Cleft Lip/Palate
Abnormal number of permanent teeth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral in... ORPHA:199306
Pai Syndrome
Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Median cleft lip, Abnormal oral frenulum ... ORPHA:1993
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate OMIM:192445
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Abnormality of the ovary, Abnormal vagina morphology, Increased serum testost... ORPHA:247768
Woodhouse-Sakati Syndrome
Hypoplasia of the uterus, Hypothyroidism, Hyperinsulinemia, Delayed puberty, Micropenis, Abnormal... ORPHA:3464
Kleefstra Syndrome 2
Microcephaly, Bifid uvula, Everted lower lip vermilion OMIM:617768
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Radius, Aplasia Of, With Cleft Lip/Palate
Cleft upper lip, Cleft palate OMIM:179400
45,X/46,Xy Mixed Gonadal Dysgenesis
Hypothyroidism, Ovotestis, Chordee, Cryptorchidism, Male infertility, Bilateral cryptorchidism, A... ORPHA:1772
Vaginal Atresia
Vaginal hematocele, Primary amenorrhea, Uterus didelphys, Vaginal atresia, Transverse vaginal sep... ORPHA:65681
Chromosome 15Q14 Deletion Syndrome
Short philtrum, Everted lower lip vermilion, Tented upper lip vermilion, Cleft lip, Cleft palate OMIM:616898
Microphthalmia, Syndromic 11
Agenesis of corpus callosum, Agenesis of pineal gland, Cleft upper lip, Cleft palate OMIM:614402
Congenital Bilateral Absence Of Vas Deferens
Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia ORPHA:48
Robinow Syndrome, Autosomal Dominant 2
Long philtrum, Thin upper lip vermilion, Cleft soft palate, Dental crowding, Abnormality of the d... OMIM:616331
Seckel Syndrome 7
Hypoplasia of the uterus, Primary amenorrhea, Central hypothyroidism OMIM:614851
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Hypoplasia of the uterus, Decreased fertility, Decreased circulating progesterone, Polycystic ova... ORPHA:572333
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa
High palate, Bifid uvula, Median cleft lip OMIM:155145
Renal And Mullerian Duct Hypoplasia
Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis OMIM:266810
Brachycephaly, Trichomegaly, And Developmental Delay
High palate, Bifid uvula, Open mouth, Thick lower lip vermilion, Supernumerary tooth, Submucous c... OMIM:617412
Stickler Syndrome, Type Ii
Pierre-Robin sequence, Bifid uvula, Cleft palate, High, narrow palate OMIM:604841
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Submucous cleft hard palate, Microcephaly, Bifid uvula OMIM:619239
Estrogen Resistance Syndrome
Abnormal circulating hormone concentration, Primary amenorrhea, Hyperinsulinemia, Absence of pube... ORPHA:785
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Hypodontia, High, narrow palate, Submucous cleft hard palate, Microcephaly, Glossoptosis ORPHA:3201
Zimmermann-Laband Syndrome 3
High palate, Bifid uvula, Thick lower lip vermilion, Gingival overgrowth OMIM:618658
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type
Bifid uvula, Cleft upper lip, Microcephaly, Hypoplasia of the corpus callosum, Cleft palate OMIM:300958
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Short philtrum, Bifid uvula, Progressive microcephaly, Bilateral cleft lip, Deep philtrum, Tented... OMIM:618622
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome
Lip pit, Cleft palate, Non-midline cleft lip ORPHA:1072
Asherman Syndrome
Decreased fertility in females, Infertility, Dysmenorrhea, Miscarriage, Secondary amenorrhea, Met... ORPHA:137686
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, High palate, Bifid uvula, Microdontia, Widely spaced teeth, Macroglossia... OMIM:266920
Non-Functioning Pituitary Adenoma
Irregular menstruation, Diabetes insipidus, Panhypopituitarism, Erectile dysfunction, Central adr... ORPHA:91349
Prolactinoma
Irregular menstruation, Erectile dysfunction, Central adrenal insufficiency, Adrenocorticotropic ... ORPHA:2965
Satoyoshi Syndrome
Hypoplasia of the uterus, Amenorrhea OMIM:600705
Xeroderma Pigmentosum, Complementation Group F
Defective DNA repair after ultraviolet radiation damage OMIM:278760
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Thin vermilion border, Cleft palate OMIM:608572
Chromosome 6Q24-Q25 Deletion Syndrome
High palate, Probst bundles, Long philtrum, Agenesis of corpus callosum, High, narrow palate, Sub... OMIM:612863
Interstitial Cystitis
Abnormal vagina morphology, Abnormal labia morphology, Dyspareunia, Abnormality of the urethra, A... ORPHA:37202
46,Xx Sex Reversal 1
Ovotestis, Azoospermia, Elevated circulating luteinizing hormone level, True hermaphroditism, Ele... OMIM:400045
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Dysplastic corpus callosum, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermil... OMIM:619103
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Long philtrum, Fused teeth... ORPHA:2712
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Primary adrenal insufficiency, Cryptorchidism, Elevated circulating luteinizing hormone level, Mi... ORPHA:289548
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Increased circulating androstenedione concentration, Adrenogenital syndrome, Hypoplasia of the va... OMIM:202010
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Aplasia of the uterus, Primary amenorrhea, Septate vagina, Uterus didelphys, Aplasia of the vagin... OMIM:146255
1Q41Q42 Microdeletion Syndrome
Submucous cleft hard palate, Holoprosencephaly, Cleft palate, Thick vermilion border ORPHA:250999
Walker-Warburg Syndrome
Abnormal cortical gyration, Bifid uvula, Agenesis of corpus callosum, Submucous cleft hard palate... ORPHA:899
Schilbach-Rott Syndrome
Narrow mouth, Microcephaly, Bifid uvula, Submucous cleft hard palate OMIM:164220
Temple Syndrome
Decreased response to growth hormone stimulation test, Bifid uvula, Hydrocephalus ORPHA:254516
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Primary adrenal insufficiency, Testicular adrenal rest tumor, Abnormal external genitalia, Increa... ORPHA:90794
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Long philtrum, Velopharyngeal insufficiency, Intestinal malrotation, Lobar holoprosencephaly, Sub... OMIM:614701
Hypoplasminogenemia
Abnormality of the ovary, Cervicitis, Abnormal fallopian tube morphology ORPHA:722
Lumbar Syndrome
Hypoplastic labia majora, Cryptorchidism, Micropenis, Bifid uterus, Bifid scrotum, Ambiguous geni... ORPHA:83628
Townes-Brocks Syndrome 2
Bifid uterus, Rectovaginal fistula, Hypospadias OMIM:617466
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Macroglossia, Microcephaly, Lissencephaly, Hydrocephalus, Protruding tongue, Cleft p... OMIM:612938
Multiple Epiphyseal Dysplasia, Lowry Type
Cleft hard palate ORPHA:166016
Birk-Barel Syndrome
Submucous cleft soft palate, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion OMIM:612292
Amed Syndrome, Digenic
Hypoplasia of the uterus, Adrenal hypoplasia OMIM:619151
Spondylometaphyseal Dysplasia, Schmidt Type
Cleft soft palate ORPHA:93316
Desmosterolosis
Narrow mouth, Abnormal cortical gyration, Bifid uvula, Agenesis of corpus callosum, Intestinal ma... ORPHA:35107
Mayer-Rokitansky-Küster-Hauser Syndrome
Aplasia of the uterus, Hypoplasia of the vagina ORPHA:3109
Limb-Mammary Syndrome
Hypodontia, Bifid uvula, Cleft palate OMIM:603543
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Solitary median maxillary central incisor, Median cleft palate, Sept... OMIM:301043
Woodhouse-Sakati Syndrome
Hypogonadotropic hypogonadism, Micropenis, Decreased serum testosterone concentration, Hypoplasia... OMIM:241080
Orofaciodigital Syndrome V
High palate, Bifid uvula, Agenesis of corpus callosum, Lobulated tongue, Hypodontia, Aganglionic ... OMIM:174300
Buratti-Harel Syndrome
Submucous cleft hard palate, High palate, Bifid uvula, Velopharyngeal insufficiency OMIM:619314
Congenital Disorder Of Glycosylation, Type Id
High palate, Cerebral atrophy, Bifid uvula, Microcephaly, Villous atrophy OMIM:601110
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Smooth philtrum, Esophageal atresia OMIM:614526
Branchiogenic-Deafness Syndrome
Submucous cleft hard palate, Branchial cyst, Branchial fistula OMIM:609166
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Narrow mouth, High palate, Short philtrum, Bifid uvula, Pyloric stenosis, Cleft palate ORPHA:96184
46,Xy Sex Reversal 4
Hypoplastic labia majora, Gonadal dysgenesis, Sex reversal, Hypergonadotropic hypogonadism, Hypop... OMIM:154230
Kennerknecht Syndrome
Hypoplasia of the uterus, Agonadism OMIM:600908
Osteopathia Striata-Cranial Sclerosis Syndrome
Cerebral calcification, Bifid uvula, Delayed eruption of teeth, High, narrow palate, Submucous cl... ORPHA:2780
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Short philtrum, Abnormal caudate nucleus morphology, Cleft soft palate, Primary microcephaly, Smo... ORPHA:293725
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Bifid uvula, Long philtrum, Intestinal malrotation, Abnormal oral frenulum morphology, Deep philt... ORPHA:404440
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Hypoplasia of the uterus, Primary amenorrhea OMIM:609441
Orofaciodigital Syndrome Iii
Tongue nodules, Bifid uvula, Microdontia, Supernumerary tooth, Bifid tongue OMIM:258850
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens OMIM:300985
Rapp-Hodgkin Syndrome
Narrow mouth, Bifid uvula, Cleft upper lip, Velopharyngeal insufficiency, Conical tooth, Hypodont... OMIM:129400
Arthrogryposis, Distal, Type 3
Submucous cleft hard palate, High palate, Bifid uvula, Cleft palate OMIM:114300
Holoprosencephaly 3
Central diabetes insipidus, Solitary median maxillary central incisor, Bifid uvula, Cleft lip, Mi... OMIM:142945
Craniosynostosis 2
Cleft soft palate, Supernumerary tooth OMIM:604757
Auriculocondylar Syndrome
Narrow mouth, Bifid uvula, Hamartoma of tongue, Microglossia, Dental crowding, Glossoptosis, Mand... ORPHA:137888
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
High palate, Abnormal corpus callosum morphology, Long philtrum, Cavum septum pellucidum, Impaire... ORPHA:457279
Leopard Syndrome 1
Cryptorchidism, Micropenis, Aplasia of the ovary, Delayed menarche, Delayed puberty, Hypospadias,... OMIM:151100
Cardiocranial Syndrome, Pfeiffer Type
Bifid uvula, Broad philtrum, High, narrow palate ORPHA:2872
Neu-Laxova Syndrome
Abnormal cortical gyration, Cerebral calcification, Bifid uvula, Abnormality of the philtrum, Eve... ORPHA:2671
Emanuel Syndrome
High palate, Ectopic anus, Bifid uvula, Submucous cleft lip, Long philtrum, Delayed eruption of t... ORPHA:96170
Zimmermann-Laband Syndrome
High palate, Bifid uvula, Gingival fibromatosis, Hypodontia, Supernumerary tooth, Macroglossia, A... ORPHA:3473
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Short philtrum, Bifid uvula, Long philtrum, Drooling, Perisylvian polymicrogyria, Microcephaly, H... OMIM:619121
Meckel Syndrome 12
Microcephaly, Bifid uvula, Agenesis of corpus callosum, Cerebral hypoplasia OMIM:616258
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Bifid uvula, Delayed eruption of teeth, Hypodontia, Dental malocclusion OMIM:612350
Stickler Syndrome, Type I
Pierre-Robin sequence, Bifid uvula, Cleft palate, Submucous cleft hard palate OMIM:108300
8Q22.1 Microdeletion Syndrome
Submucous cleft hard palate, Abnormality of the dentition, Microcephaly, Long philtrum ORPHA:178303
Vertebral Hypersegmentation And Orofacial Anomalies
Submucous cleft hard palate, Unilateral cleft palate, Unilateral cleft lip OMIM:619122
W Syndrome
Submucous cleft hard palate, Broad uvula, Agenesis of maxillary central incisor, Upper lip pit ORPHA:2804
Genitourinary And/Or Brain Malformation Syndrome
Chordee, Cryptorchidism, Uterus didelphys, Micropenis, Gonadal dysgenesis, Urogenital sinus anoma... OMIM:618820
Cri-Du-Chat Syndrome
High palate, Short philtrum, Bifid uvula, Thick lower lip vermilion, Microcephaly, Anterior open-... OMIM:123450
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Cleft palate OMIM:612561
Holoprosencephaly 2
Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum, Submucous cl... OMIM:157170
Branchiootorenal Syndrome 1
Branchial cyst, High palate, Bifid uvula, Intestinal malrotation, Abnormal cerebral morphology, M... OMIM:113650
Xfe Progeroid Syndrome
Premature ovarian insufficiency, Defective DNA repair after ultraviolet radiation damage OMIM:610965
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Microcephaly, Bifid uvula, Cleft palate, Spinal dysraphism OMIM:617660
Marbach-Schaaf Neurodevelopmental Syndrome
Submucous cleft hard palate, Thin upper lip vermilion, Microcephaly, Downturned corners of mouth OMIM:619680
Fanconi Anemia, Complementation Group A
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227650
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Bifid uvula, Thin vermilion border, Long philtrum, Microcephaly, Hypoplasia of the corpus callosu... OMIM:241410
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Aplasia of the uterus, Septate vagina, Uterus didelphys, Vaginal atresia, Hypoparathyroidism, Dia... ORPHA:2237
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Failure of eruption of permanent teeth, Hypoplasia of the olfactory bulb, Submucous ... ORPHA:2250
Pallister W Syndrome
Submucous cleft hard palate, Agenesis of central incisor, Broad uvula, Agenesis of maxillary cent... OMIM:311450
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Narrow mouth, Bifid uvula, Death in infancy, Cleft palate ORPHA:1790
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Submucous cleft soft palate, Delayed eruption of teeth, Non-midline cleft lip, Conical tooth, Hyp... ORPHA:1071
Cree Mental Retardation Syndrome
Cleft soft palate OMIM:606851
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula ORPHA:169186
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Narrow mouth, Bifid uvula, Delayed eruption of teeth, Submucous cleft hard palate, Dental crowdin... OMIM:300990
Fanconi Anemia, Complementation Group E
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:600901
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Tracheoesophageal fistula, Esophageal atresia, Submucous cleft hard palate, Microcephaly, Spina b... OMIM:619227
Popliteal Pterygium Syndrome
Hypoplastic labia majora, Small scrotum, Hypoplasia of the vagina, Cryptorchidism, Bifid scrotum,... OMIM:119500
Orofaciodigital Syndrome Type 2
Tongue nodules, High palate, Submucous cleft soft palate, Unilateral alveolar cleft of maxilla, V... ORPHA:2751
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Cerebral atrophy, Bifid uvula, Agenesis of corpus callosum, Enamel hypoplasia, Microcephaly, Hypo... OMIM:615802
Orofaciodigital Syndrome Type 4
Short philtrum, Rectovaginal fistula, Bifid uvula, Cerebral cortical hemiatrophy, Abnormal oral m... ORPHA:2753
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Long philtrum, Microcephaly, Cerebral cortical atrophy OMIM:249310
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Agenesis of corpus callosum, Esophageal atr... ORPHA:87
Limb-Mammary Syndrome
Submucous cleft soft palate, Bifid uvula, Hypodontia, Cleft lip, Cleft palate, Cleft hard palate ORPHA:69085
Cardiofaciocutaneous Syndrome 1
High palate, Open bite, Aplasia/Hypoplasia of the corpus callosum, Open mouth, Hypoplasia of the ... OMIM:115150
Double Outlet Right Ventricle
Narrow mouth, Intestinal malrotation, Cleft palate, Submucous cleft hard palate ORPHA:3426
Orofaciodigital Syndrome Type 3
Bifid uvula, Lobulated tongue, Hamartoma of tongue, Irregular dentition, Abnormality of the denti... ORPHA:2752
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Aplasia of the vagina, Absent external genitalia, Urethral atresia OMIM:271520
Moebius Syndrome
High palate, Bifid uvula, Abnormality of the dentition OMIM:157900
Fanconi Anemia, Complementation Group C
Cryptorchidism, Deficient excision of UV-induced pyrimidine dimers in DNA, Hypergonadotropic hypo... OMIM:227645
Primary Ciliary Dyskinesia
Female infertility, Abnormal sperm motility, Male infertility ORPHA:244
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Pierre-Robin sequence, High palate, Submucous cleft soft palate... OMIM:608670
White-Sutton Syndrome
Short philtrum, High palate, Bifid uvula, Cerebral atrophy, Hypoplasia of the corpus callosum, Mi... OMIM:616364
Chromosome 18Q Deletion Syndrome
Short philtrum, Bifid uvula, Cleft upper lip, U-Shaped upper lip vermilion, Microcephaly, Thin up... OMIM:601808
Meier-Gorlin Syndrome 5
Submucous cleft hard palate, Microcephaly, Long philtrum, Thick vermilion border OMIM:613805
Fanconi Anemia, Complementation Group D2
Patent ductus arteriosus, Cryptorchidism, Micropenis, Deficient excision of UV-induced pyrimidine... OMIM:227646
De Sanctis-Cacchione Syndrome
Gonadal hypoplasia, Bilateral cryptorchidism, Defective DNA repair after ultraviolet radiation da... OMIM:278800
Velocardiofacial Syndrome
Pierre-Robin sequence, Velopharyngeal insufficiency, Open mouth, Submucous cleft hard palate, Mic... OMIM:192430
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Bifid uterus, Supernumerary nipple, Abnormal reproductive system morphology ORPHA:1521
Myhre Syndrome
Narrow mouth, Bifid uvula, Unilateral cleft lip, Submucous cleft hard palate, Gingival cleft, Thi... ORPHA:2588
Van Esch-O'Driscoll Syndrome
Cerebral atrophy, Bifid uvula, Microcephaly, Spina bifida occulta, Increased circulating gonadotr... OMIM:301030
Progeria-Short Stature-Pigmented Nevi Syndrome
Bifid uvula, Hypodontia, Microcephaly, Selective tooth agenesis, Abnormality of thalamus morpholo... ORPHA:2959
Loeys-Dietz Syndrome 5
Hiatus hernia, High palate, Bifid uvula, Cleft soft palate, Tented upper lip vermilion, Eosinophi... OMIM:615582
Oeis Complex
Rectovaginal fistula, Cryptorchidism, Micropenis, Ambiguous genitalia, female, Absent scrotum, Ve... OMIM:258040
Cardiac-Urogenital Syndrome
Aplasia of the uterus, Cryptorchidism, Micropenis, Bifid scrotum, Ambiguous genitalia OMIM:618280
Alg9-Cdg
Hypoplastic nipples, Bicornuate uterus, Hypoplasia of the ovary ORPHA:79328
Cerebrocostomandibular Syndrome
High palate, Long philtrum, Anal stenosis, Cleft soft palate, Porencephalic cyst, Microcephaly, S... OMIM:117650
Osteopathia Striata With Cranial Sclerosis
Pierre-Robin sequence, High palate, Bifid uvula, Cleft upper lip, Anal stenosis, Intestinal malro... OMIM:300373
Branchioskeletogenital Syndrome
Short philtrum, Bifid uvula, Rootless teeth, Unilateral cleft palate, Carious teeth, Abnormal den... ORPHA:1299
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Enamel hypoplasia, Hypodontia, Dens in dente, Macrodontia OMIM:263540
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Abnormal cortical gyration, Bifid uvula, Long philtrum, Anal atresia, Smooth philtrum, Hypoplasia... OMIM:300968
Otospondylomegaepiphyseal Dysplasia
Bifid uvula, Glossoptosis, Cleft palate ORPHA:1427
Orofaciodigital Syndrome Type 10
Accessory oral frenulum, Cleft soft palate, Long philtrum ORPHA:2756
Opitz gbbb syndrome, type II
Hiatus hernia, High palate, Bifid uvula, Cleft upper lip, Agenesis of corpus callosum, Anal steno... OMIM:145410
Craniolenticulosutural Dysplasia
High palate, Bifid uvula, Long philtrum, Delayed eruption of teeth, Carious teeth, Hypoplasia of ... OMIM:607812
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus ORPHA:3320
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Bifid uvula, Agenesis of corpus callosum OMIM:300472
Prader-Willi Syndrome Due To Translocation
High palate, Bifid uvula, Anterior pituitary hypoplasia, Alveolar ridge overgrowth, Carious teeth... ORPHA:177907
Lenz-Majewski Hyperostotic Dwarfism
Bifid uvula, Agenesis of corpus callosum, High, narrow palate, Submucous cleft hard palate, Wide ... ORPHA:2658
Trichothiodystrophy
Cryptorchidism, Gonadal dysgenesis, Defective DNA repair after ultraviolet radiation damage ORPHA:33364
Desbuquois Dysplasia 2
Bifid uvula, Long philtrum, Hypodontia, Microcephaly, Dental crowding, Cleft palate OMIM:615777
Steinfeld Syndrome
Holoprosencephaly, Bifid uvula, Median cleft lip and palate OMIM:184705
Loeys-Dietz Syndrome 4
High palate, Bifid uvula, Broad uvula, High, narrow palate, Eosinophilic infiltration of the esop... OMIM:614816
Robin Sequence With Cleft Mandible And Limb Anomalies
Pierre-Robin sequence, Narrow mouth, High palate, Bifid uvula, Agenesis of mandibular central inc... OMIM:268305
Spondyloepiphyseal Dysplasia Congenita
Pierre-Robin sequence, Cervical myelopathy, Bifid uvula, Cleft palate OMIM:183900
Hyperphosphatasia-Intellectual Disability Syndrome
High palate, Short philtrum, Bifid uvula, Aganglionic megacolon, Tented upper lip vermilion, Broa... ORPHA:247262
Apert Syndrome
Ectopic anus, Bifid uvula, Delayed eruption of teeth, Agenesis of corpus callosum, Esophageal atr... OMIM:101200
Marden-Walker Syndrome
Narrow mouth, Bifid uvula, Agenesis of corpus callosum, Submucous cleft hard palate, Microcephaly... ORPHA:2461
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Microcephaly, Cerebral dysmyelination, Bifid uvula, Hypoplasia of the tooth germ ORPHA:293967
Dubowitz Syndrome
High palate, Delayed eruption of teeth, Anal stenosis, Aplasia/Hypoplasia of the corpus callosum,... ORPHA:235
15Q Overgrowth Syndrome
High palate, Bifid uvula, Agenesis of corpus callosum, Abnormality of the incisor, High, narrow p... ORPHA:314585
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
High palate, Bifid uvula, Open mouth, Oligodontia, Macroglossia, Microcephaly, Furrowed tongue, H... ORPHA:453499
Pontocerebellar Hypoplasia Type 7
Aplasia of the uterus, Cryptorchidism, Micropenis, Absent penis, Abnormal scrotal rugation, Ambig... ORPHA:284339
Dubowitz Syndrome
High palate, Agenesis of permanent teeth, Delayed eruption of teeth, Velopharyngeal insufficiency... OMIM:223370
Aprosencephaly And Cerebellar Dysgenesis
Aprosencephaly, Bifid uvula OMIM:601374
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Short philtrum, Bifid uvula, Thick lower lip vermilion, High, narrow palate, Dental crowding, Smo... OMIM:309583
Zttk Syndrome
Narrow mouth, High palate, Short philtrum, Bifid uvula, Dysplastic corpus callosum, Submucous cle... OMIM:617140
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Bifid uvula, Agenesis of corpus callosum, Open bite, Abnormalit... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Bifid uvula, Agenesis of corpus callosum, Open bite, Abnormalit... ORPHA:352665
Linear Skin Defects With Multiple Congenital Anomalies 1
Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias, Clitoral hypertrophy OMIM:309801
Turner Syndrome Due To Structural X Chromosome Anomalies
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99413
Turner Syndrome
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:881
Mosaic Monosomy X
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99228
Monosomy X
Primary amenorrhea, Hyperinsulinemia, Abnormality of the ovary, Hashimoto thyroiditis, Gonadoblas... ORPHA:99226
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Native American Myopathy
Submucous cleft soft palate, High palate, Bifid uvula, Downturned corners of mouth, Cleft palate ORPHA:168572
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Chromosome 17Q12 Deletion Syndrome
Aplasia of the uterus, Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Unicornuate uterus, U... OMIM:614527
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microdontia, Deep philtrum, Macro... OMIM:619194
Exstrophy-Epispadias Complex
Male sexual dysfunction, Bifid penis, Cryptorchidism, Absent penis, Bifid uterus, Female sexual d... ORPHA:322
Cardiofaciocutaneous Syndrome
High palate, Long philtrum, Submucous cleft hard palate, Cerebral cortical atrophy, Hydrocephalus ORPHA:1340
Ear-Patella-Short Stature Syndrome
Narrow mouth, Bifid uvula, High, narrow palate, Submucous cleft hard palate, Microcephaly, Cleft ... ORPHA:2554
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Submucous cleft hard palate, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum OMIM:618891
Phocomelia, Schinzel Type
Cryptorchidism, Aplasia of the uterus, Hypoplasia of penis ORPHA:2879
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome
Submucous cleft soft palate, Microcephaly, Cleft soft palate ORPHA:2282
Renal Cysts And Diabetes Syndrome
Epididymal cyst, Pancreatic hypoplasia, Maturity-onset diabetes of the young, Atretic vas deferen... OMIM:137920
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Narrow mouth, Short philtrum, Submucous cleft soft palate, Dysplastic corpus callosum, Pineal cys... OMIM:300967
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Bifid uvula, Long philtrum, Anal stenosis, Delayed eruption of ... OMIM:211380
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Aplasia of the uterus, Aplasia of the vagina ORPHA:457284
Semilobar Holoprosencephaly
High palate, Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum,... ORPHA:220386
Alobar Holoprosencephaly
High palate, Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum,... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum,... ORPHA:93926
Lobar Holoprosencephaly
High palate, Solitary median maxillary central incisor, Bifid uvula, Agenesis of corpus callosum,... ORPHA:93924
Treacher Collins Syndrome 1
Narrow mouth, Cleft soft palate, Abnormal parotid gland morphology, Cleft palate, Wide mouth OMIM:154500
Campomelic Dysplasia
Narrow mouth, High palate, Long philtrum, Carious teeth, Submucous cleft hard palate, Spinal dysr... OMIM:114290
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Abnormal ovarian morphology, Primary amenorrhea, Adrenal hyperplasia, Polycystic ovaries, Cryptor... ORPHA:95699
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Cleft soft palate OMIM:614557
Bardet-Biedl Syndrome 1
Micropenis, Abnormality of the ovary, Vaginal atresia, Hypogonadism, Decreased testicular size OMIM:209900
Baller-Gerold Syndrome
Narrow mouth, High palate, Rectovaginal fistula, Bifid uvula, Agenesis of corpus callosum, Perine... OMIM:218600
Schinzel-Giedion Syndrome
Central hypothyroidism, Micropenis, Annular pancreas, Streak ovary, Hypospadias ORPHA:798
Congenital Disorder Of Glycosylation, Type It
Pierre-Robin sequence, Bifid uvula, Cleft palate OMIM:614921
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Abnormal corpus callosum morphology, Bifid uvula, Abnormal hippocampus morphology, Focal hypointe... ORPHA:261537
Frontometaphyseal Dysplasia 2
Pierre-Robin sequence, High palate, Short philtrum, Bifid uvula, Deep philtrum, Pyloric stenosis,... OMIM:617137
Mowat-Wilson Syndrome
Abnormal corpus callosum morphology, Drooling, Abnormality of enteric ganglion morphology, Delaye... OMIM:235730
Microphthalmia, Syndromic 2
Bifid uvula, Fused teeth, Long philtrum, Delayed eruption of teeth, Radiculomegaly, Oligodontia, ... OMIM:300166
Trisomy 8P
Malrotation of small bowel, Bifid uvula, Agenesis of corpus callosum, Microcephaly, Hydrocephalus... ORPHA:264450
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Narrow mouth, Bifid uvula, Exaggerated cupid's bow, Partial agenesis of the corpus callosum, Spin... OMIM:619480
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Bifid uvula, Long philtrum, Widely spaced teeth, Deep philtrum, Smooth philtrum, Thi... OMIM:617506
Frontofacionasal Dysplasia
Oral cleft, Bifid uvula, Cleft upper lip, Cranium bifidum occultum OMIM:229400
Mowat-Wilson Syndrome
Bifid uvula, Abnormal hippocampus morphology, Everted lower lip vermilion, Widely spaced teeth, M... ORPHA:2152
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplastic anterior commissure, Abnormal corpus callosum morphology, Bifid uvula, Abnormal hippo... ORPHA:261552
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Cleft soft palate, Posterior pituitary hypoplasia, Widely spaced teeth, Supernumerary tooth, Micr... ORPHA:268261
Chromosome 1P36 Deletion Syndrome, Distal
High palate, Hypoplasia of the corpus callosum, Bifid uvula, Cleft upper lip, Long philtrum, Agen... OMIM:607872
Tolchin-Le Caignec Syndrome
Narrow mouth, High palate, Submucous cleft hard palate OMIM:618971
Thrombocytopenia-Absent Radius Syndrome
Aplasia of the uterus, Pancreatic cysts OMIM:274000
Trichohepatoenteric Syndrome 1
Narrow mouth, Bifid uvula, Long philtrum, Villous atrophy, Wide mouth OMIM:222470
Ring Chromosome 7 Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Median cleft palate, Microcephaly, Cerebral cortical a... ORPHA:1449
Tetrasomy 9P
Amelogenesis imperfecta, High palate, Bifid uvula, Abnormal number of permanent teeth, Short phil... ORPHA:3310
Restrictive Dermopathy 1
Narrow mouth, Natal tooth, Stillbirth, Submucous cleft hard palate OMIM:275210
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Submucous cleft soft palate, Short philtrum, Dysplastic corpus callosum, Bifid uvula, Dilation of... ORPHA:500150
Hardikar Syndrome
Cleft soft palate, Intestinal malrotation, Unilateral cleft lip, Unilateral cleft palate, Esophag... OMIM:301068
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Submucous cleft hard palate, Neoplasm of the tongue, Bifid uvula, Microcephaly ORPHA:3047
Camptodactyly Syndrome, Guadalajara, Type I
Narrow mouth, High palate, Bifid uvula, Abnormality of dental eruption, Microcephaly, Spina bifid... OMIM:211910
Hydrolethalus Syndrome 1
Bifid uterus, Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis OMIM:236680
Blackfan-Diamond Anemia
High palate, Cleft soft palate, Adenocarcinoma of the colon, Cleft lip, Microcephaly ORPHA:124
Neuroocular Syndrome
Widely spaced teeth, Short uvula, Submucous cleft hard palate, Microcephaly, Increased overbite, ... OMIM:619539
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Bifid uvula, Submucous cleft hard palate, Microcephaly, Cleft palate, Thick vermilion border ORPHA:2636
Coffin-Siris Syndrome 12
High palate, Velopharyngeal insufficiency, Hippocampal atrophy, Submucous cleft hard palate, Micr... OMIM:619325
Loeys-Dietz Syndrome
Uterine rupture ORPHA:60030
Meester-Loeys Syndrome
Bifid uvula OMIM:300989
Frontometaphyseal Dysplasia
Spina bifida occulta, Oligodontia, Bifid uvula, Cleft palate ORPHA:1826
Pallister-Hall Syndrome
Accessory oral frenulum, Gonadotropin deficiency, Abnormal corpus callosum morphology, Bifid uvul... ORPHA:672
Loeys-Dietz Syndrome 1
Bifid uvula, Eosinophilic infiltration of the esophagus, Cleft palate, Hydrocephalus OMIM:609192
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Narrow mouth, High palate, Small pituitary gland, Agenesis of permanent teeth, Delayed eruption o... OMIM:619503
Townes-Brocks Syndrome 1
Rectovaginal fistula, Hypothyroidism, Cryptorchidism, Bifid uterus, Bifid scrotum, Urethral valve... OMIM:107480
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Narrow mouth, Bifid uvula, Cleft palate OMIM:130070
Lacrimoauriculodentodigital Syndrome
Abnormal salivary gland morphology, Bifid uvula, Enamel hypoplasia, Hypodontia, Microdontia, Cari... ORPHA:2363
Viss Syndrome
Submucous cleft soft palate, High palate, Bifid uvula, Broad uvula, Cleft soft palate, Intestinal... OMIM:619472
Ehlers-Danlos Syndrome, Vascular Type
Cervical insufficiency, Cryptorchidism, Uterine prolapse, Uterine rupture, Cystocele OMIM:130050
Neu-Laxova Syndrome 1
Cryptorchidism, Bifid uterus OMIM:256520
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia of the uterus, Small scrotum, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic... OMIM:276820
Wiedemann-Rautenstrauch Syndrome
Submucous cleft soft palate, Short philtrum, Narrow mouth, Agenesis of corpus callosum, Abnormali... ORPHA:3455
Norrie Disease
Cryptorchidism, Erectile dysfunction, Diabetes mellitus, Uterine rupture, Delayed puberty ORPHA:649
Okamoto Syndrome
Bifid uterus ORPHA:2729
Microphthalmia, Syndromic 6
High palate, Bifid uvula, Aplasia/Hypoplasia of the corpus callosum, Anterior hypopituitarism, Mi... OMIM:607932
Wolf-Hirschhorn Syndrome
Cryptorchidism, Aplasia of the uterus, Precocious puberty, Hypospadias OMIM:194190
Coffin-Siris Syndrome 1
Cryptorchidism, Aplasia of the uterus, Hypospadias, Clitoral hypertrophy OMIM:135900
Restrictive Dermopathy
Narrow mouth, Microcolon, Natal tooth, Submucous cleft hard palate ORPHA:1662
Digeorge Syndrome
High palate, Short philtrum, Bifid uvula, Drooling, High, narrow palate, Microcephaly, Cleft palate OMIM:188400
Rubinstein-Taybi Syndrome 1
Papillary cystadenoma of the epididymis, Cryptorchidism, Shawl scrotum, Bifid uterus, Premature t... OMIM:180849
Loeys-Dietz Syndrome 2
Bifid uvula, Eosinophilic infiltration of the esophagus, Cleft palate, Hydrocephalus OMIM:610168
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Bifid uvula, Cleft palate ORPHA:284984
Pallister-Killian Syndrome
Hypoplasia of the corpus callosum, Bifid uvula, Stillbirth, Long philtrum, Delayed eruption of te... OMIM:601803
Loeys-Dietz Syndrome 3
High palate, Bifid uvula, Eosinophilic infiltration of the esophagus, Dental malocclusion, Cleft ... OMIM:613795
Vascular Ehlers-Danlos Syndrome
Cryptorchidism, Uterine prolapse, Cystocele, Uterine rupture, Hypospadias ORPHA:286

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Lhx8

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Lhx8.

No publications found that use IMPC mice or data for Lhx8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

This service may be affected by the Covid-19 pandemic. See how

MGI Allele Allele Type Produced
Lhx8tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lhx8tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter