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Gene: Lats1 MGI:1333883

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Gene Summary

Name:
large tumor suppressor
Synonyms:
N/A

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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.

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating alanine transaminase level Lats1em1(IMPC)H HOM Early adult 2.01×10-05
decreased locomotor activity Lats1em1(IMPC)H HOM   Early adult 2.26×10-08
decreased prepulse inhibition Lats1em1(IMPC)H HOM   Early adult 1.45×10-05
increased grip strength Lats1em1(IMPC)H HOM Early adult 3.48×10-09
decreased hemoglobin content Lats1em1(IMPC)H HOM Early adult 1.14×10-06
decreased grip strength Lats1em1(IMPC)H HET   Early adult 1.31×10-06
increased neutrophil cell number Lats1em1(IMPC)H HOM   Early adult 7.80×10-05

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Viewing: all phenotypes

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 Lats1 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 Lats1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Sparse axillary hair, ... OMIM:228300
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absence of pubertal development, Decreased circula... OMIM:614837
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hemoglobin E-Beta-Thalassemia Syndrome
Increased circulating ferritin concentration, Abnormal hemoglobin, Anemia ORPHA:231249
Hemoglobin D Disease
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, HbS hemoglobin, A... ORPHA:90039
Hyperprolactinemia
Female infertility, Agalactia, Menorrhagia, Oligomenorrhea, Galactorrhea, Increased circulating p... OMIM:615555
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Maffucci Syndrome
Neoplasm of the adrenal cortex, Sarcoma, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm o... ORPHA:163634
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, I... ORPHA:206484
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Basal cell carcinoma, Papillary thyroid carcinoma, Prostate cancer, Goiter OMIM:616534
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Alopecia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease... ORPHA:453533
Ring Chromosome Y Syndrome
Bifid scrotum, Ambiguous genitalia, female, Ambiguous genitalia, male, Abnormality of the male ge... ORPHA:261529
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Serrated Polyposis Syndrome
Pancreatic adenocarcinoma, Schwannoma, Bladder carcinoma, Breast carcinoma, Ovarian neoplasm, Hod... ORPHA:157798
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Ovarian Cancer
Breast carcinoma, Ovarian papillary adenocarcinoma, Dysgerminoma OMIM:167000
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Werner Syndrome
Myocardial infarction, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, N... ORPHA:902
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration... ORPHA:314478
Schöpf-Schulz-Passarge Syndrome
Alopecia, Squamous cell carcinoma, Ovarian neoplasm, Basal cell carcinoma, Facial telangiectasia,... ORPHA:50944
Breast-Ovarian Cancer, Familial, Susceptibility To, 2
Breast carcinoma, Ovarian neoplasm OMIM:612555
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Breast-Ovarian Cancer, Familial, Susceptibility To, 3
Ovarian carcinoma, Breast carcinoma OMIM:613399
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2
Hypoplastic areola, Absent nipple, Highly arched eyebrow, Cryptorchidism, Male urethral meatus st... OMIM:616001
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Weight loss, Ovarian neoplasm, Fine hair, ... ORPHA:2221
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Cachexia, Testicular neoplasm, Weight loss, Ovarian neoplasm, Neoplasm ... ORPHA:83469
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Meningioma
Decreased circulating cortisol level, Neoplasm of the anterior pituitary, Reduced circulating pro... ORPHA:2495
Peripheral Primitive Neuroectodermal Tumor
Abnormal bleeding, Neoplasm of the pancreas, Brain neoplasm, Metrorrhagia, Precocious puberty, Sp... ORPHA:370348
Hypogonadotropic Hypogonadism 27 Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Obesity, Absence of pubertal... OMIM:619755
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Pleuropulmonary blastoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Nephr... OMIM:180295
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Visceral angiomatosis, Congestive heart failure, Ovarian neoplasm, Neoplasm of the breast, Hamart... ORPHA:137608
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Galactor... ORPHA:397685
Oocyte/Zygote/Embryo Maturation Arrest 10
Miscarriage, Female infertility OMIM:619176
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Androgen Insensitivity Syndrome
Absent facial hair, Elevated circulating luteinizing hormone level, Sparse axillary hair, Sparse ... OMIM:300068
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Familial Multinodular Goiter
Hyperthyroidism, Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular... ORPHA:276399
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Wide intermamillary distance, Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Diamond-Blackfan Anemia 18
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia OMIM:618310
Lynch Syndrome
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Glioblastoma mu... ORPHA:144
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Le... ORPHA:1359
Familial Colorectal Cancer Type X
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Pancreatic adenocarcinoma, Renal neoplasm,... ORPHA:440437
Frasier Syndrome
Gonadal dysgenesis, Male pseudohermaphroditism, Primary amenorrhea, Ovarian gonadoblastoma OMIM:136680
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
46,Xy Sex Reversal 6
Hypospadias, Sparse axillary hair, Hirsutism, Sex reversal, Gonadal dysgenesis, Chordee, Dysgermi... OMIM:613762
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1
Hypoplastic areola, Aplasia/Hypoplasia of the nipples, Absent nipple, Aplasia/Hypoplasia of the b... OMIM:113700
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Cowden Syndrome 1
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... OMIM:158350
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Primary amenorrhea, Hypohidrosis, Bilateral breast hypop... ORPHA:69085
Fanconi Anemia, Complementation Group S
Low anterior hairline, Breast carcinoma, Ovarian neoplasm, Long eyelashes, Ovarian carcinoma, Spa... OMIM:617883
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Absent pubic hair,... ORPHA:90793
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Beta-Thalassemia, Dominant Inclusion Body Type
Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Erythrocyte inclu... OMIM:603902
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Hemoglobin H Disease
Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio, HbH hemoglobin OMIM:613978
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Ovarian Fibromata
Ovarian fibroma OMIM:166970
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Ectopic Aldosterone-Producing Tumor
Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Ovarian neoplasm, Renal cortica... ORPHA:231632
Complete Androgen Insensitivity Syndrome
Bilateral cryptorchidism, Absent pubic hair, Blind vagina, Increased circulating antimullerian ho... ORPHA:99429
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Abnormal size ... ORPHA:95513
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities
Hypoplastic areola, Hypogonadism, Hypoplastic nipples, Sparse hair, Arrhythmia OMIM:273400
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... ORPHA:95512
Hemoglobin E Disease
Drug-sensitive hemolytic anemia, Abnormal hemoglobin, Anemia of inadequate production, Splenomega... ORPHA:2133
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Cerebellar Ataxia-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Supernumerary nipple, Decreased fertility, Hypogonadism, Abnormali... ORPHA:1173
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231242
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive
Absent eyebrow, Sparse scalp hair, Absent nipple, Sparse eyelashes, Anhidrosis, Absent eyelashes,... OMIM:614941
Delta-Beta-Thalassemia
Abnormal hemoglobin, Anemia, Microcytic anemia ORPHA:231237
Muir-Torre Syndrome
Malignant genitourinary tract tumor, Laryngeal carcinoma, Breast carcinoma, Ovarian neoplasm, Ben... OMIM:158320
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Sparse pubic hair, Increased circulating gonadotro... ORPHA:243
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Acetophenetidin Sensitivity
Hemolytic anemia, Methemoglobinemia OMIM:200300
Asherman Syndrome
Metrorrhagia, Dysmenorrhea, Miscarriage, Abnormality of the menstrual cycle, Decreased fertility ... ORPHA:137686
Ane Syndrome
Decreased serum insulin-like growth factor 1, Alopecia, Hypogonadotropic hypogonadism, Anterior p... ORPHA:157954
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Abnormal hemoglobin, Thrombocytopenia ORPHA:231393
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant
Anhidrosis, Brittle hair, Absent nipple, Hypohidrosis, Sparse hair, Absent hair OMIM:614940
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Male pseudohermaphroditism, Increased circulating g... ORPHA:347
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:90695
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Adult Syndrome
Sparse scalp hair, Wide intermamillary distance, Absent nipple, Fair hair, Sparse axillary hair, ... OMIM:103285
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Barber-Say Syndrome
Inverted nipples, Absent nipple, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Hypoplastic la... OMIM:209885
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Neuroendocrine Neoplasm Of Appendix
Tricuspid stenosis, Ileal adenocarcinoma, Heart murmur, Adrenocorticotropic hormone excess, Ovari... ORPHA:100079
Adult Syndrome
Sparse scalp hair, Alopecia, Absent nipple, Fine hair, Hypoplastic nipples, Breast hypoplasia ORPHA:978
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Anemia ORPHA:46532
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Soft tissue sarcoma, Adrenocortical carcinoma, Breast carcinoma, Acute ... OMIM:151623
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Tetraamelia Syndrome 2
Micropenis, Absent nipple OMIM:618021
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Lynch Syndrome 5
Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm OMIM:614350
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Ambiguous genitalia, male, Decreased serum estradiol, Dec... ORPHA:90796
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Primary amenorrhea, Hypoplasia of the uterus,... ORPHA:247768
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Hypertension, I... ORPHA:280356
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Fontaine Progeroid Syndrome
Sparse scalp hair, Death in infancy, Tricuspid regurgitation, Small scrotum, Absent nipple, Small... OMIM:612289
Lynch Syndrome 4
Endometrial carcinoma, Ovarian neoplasm OMIM:614337
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Lhermitte-Duclos Disease
Trichilemmoma, Fibroadenoma of the breast, Neoplasm of the thyroid gland, Ovarian neoplasm ORPHA:65285
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Decreased fertility, Breast aplasia, Abnormality of... ORPHA:3138
Ollier Disease
Chondrosarcoma, Precocious puberty, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, H... ORPHA:296
Neutrophilia, Hereditary
Splenomegaly, Neutrophilia OMIM:162830
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Sarcoma ORPHA:2762
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Hidrotic Ectodermal Dysplasia, Halal Type
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Absent eyelashes, Irregular menstruation... ORPHA:1809
Atypical Werner Syndrome
Abnormal hair whorl, Fasting hyperinsulinemia, Premature graying of hair, Neoplasm of the breast,... ORPHA:79474
Acrorenal-Mandibular Syndrome
Absent nipple, Abnormality of the breast, Uterus didelphys, Bicornuate uterus, Unicornuate uterus OMIM:200980
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Oligomenorrhea, Hirsutism, Amenorrhea OMIM:184700
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent eyebrow, Anhidrosis, Absent nipple, Brittle hair, Sparse eyelashes, Aplasia/Hypoplastia of... OMIM:305100
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... ORPHA:1916
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Highly arched eyebrow, Sparse pubic hair, In... OMIM:110100
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Absent nipple, Aplasia of the thymus, Sparse eyebrow, Congenital hypothyroidism, Hydrocele testis... OMIM:620186
Familial Pancreatic Carcinoma
Pancreatic adenocarcinoma, Diabetes mellitus, Breast carcinoma, Weight loss, Melanoma, Ovarian ca... ORPHA:1333
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Immunodeficiency 53
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia OMIM:617585
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Cortisone Reductase Deficiency 1
Alopecia, Precocious puberty, Obesity, Infertility, Oligomenorrhea, Hirsutism OMIM:604931
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Sparse facial hair, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the ut... ORPHA:2232
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Alpha-Thalassemia Myelodysplasia Syndrome
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:300448
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Aromatase Deficiency
Macroorchidism, postpubertal, Eunuchoid habitus, Male infertility, Hypergonadotropic hypogonadism... ORPHA:91
49,Xxxyy Syndrome
Eunuchoid habitus, Decreased serum testosterone concentration, External genital hypoplasia, Abnor... ORPHA:261534
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Abnormal hair morphology, Hypoplasia of the uterus, Sparse or abs... ORPHA:3130
Fowler Urethral Sphincter Dysfunction Syndrome
Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ovary, Hirsutism, Amenorrhea ORPHA:2795
Congenital Factor Vii Deficiency
Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,... ORPHA:327
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Hypotension, Dela... ORPHA:2965
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Ectodermal Dysplasia With Adrenal Cyst
Abnormality of the endocrine system, Hypoplastic nipples, Breast hypoplasia, Hypohidrosis OMIM:129550
Normosmic Congenital Hypogonadotropic Hypogonadism
Male hypogonadism, Micropenis, Wide intermamillary distance, Hypogonadotropic hypogonadism, Crypt... ORPHA:432
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Ant... ORPHA:95494
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Anemia OMIM:613977
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Absent nipple OMIM:104350
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Neoplasm of head a... ORPHA:180229
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Ataxia-Pancytopenia Syndrome
Pancytopenia, Ataxia, Thrombocytopenia, Unsteady gait, Dysmetria, Acute myelomonocytic leukemia, ... OMIM:159550
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Paroxysmal atrial tachycardia, Neurofibr... ORPHA:137605
Intellectual Developmental Disorder, Autosomal Dominant 47
Cryptorchidism, Small for gestational age, Thin eyebrow, Supernumerary nipple OMIM:617635
Scarf Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Perineal hypospadias, Low posterior ... ORPHA:3134
Global Developmental Delay With Speech And Behavioral Abnormalities
Precocious puberty, Cryptorchidism, Supernumerary nipple OMIM:619243
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Premature thelarche, Ambiguous genitalia, female, Intracran... ORPHA:90795
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Becker Nevus Syndrome
Supernumerary nipple, Hypoplastic labia minora, Aplasia/Hypoplasia of the breasts, Abnormality of... ORPHA:64755
Steinert Myotonic Dystrophy
Brain neoplasm, Prolonged QRS complex, Decreased response to growth hormone stimulation test, Non... ORPHA:273
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Reticulocytosis, HbS hemoglobin, Asplenia, Splenomegaly, Splenic infarction, Hypochromic microcyt... ORPHA:251380
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Dilated cardiomyopathy, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Primary amenorrhea, Abnormality of the uterus, A... ORPHA:2975
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Ichthyosis With Confetti
Hypertrichosis, Hypoplastic nipples, Decreased body weight OMIM:609165
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Hypoplastic nipples, Hypospadias, Hypoplastic female external genitalia OMIM:177980
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Martin-Probst Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Telangiectasia, Chordee, Hypoplastic... OMIM:300519
Branchioskeletogenital Syndrome
Absent nipple, Highly arched eyebrow, Absent external genitalia, Synophrys, Micropenis, Penoscrot... ORPHA:1299
Rhabdoid Tumor
Renal neoplasm, Weight loss, Neoplasm of the central nervous system, Hypertension, Internal hemor... ORPHA:69077
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98754
Congenital Fibrinogen Deficiency
Abnormal bleeding, Decreased testicular size, Tachycardia, Hemorrhagic ovarian cyst, Internal hem... ORPHA:335
Alpha-Thalassemia
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Anemia ORPHA:846
Choroidal Atrophy-Alopecia Syndrome
Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Thin eyebrow, Sparse hair, Ungual fi... ORPHA:1433
Infantile Myofibromatosis
Neoplasm of the pancreas, Benign neoplasm of the central nervous system, Abnormal hair morphology... ORPHA:2591
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
19Q13.11 Microdeletion Syndrome
Bifid scrotum, Wide intermamillary distance, Hypospadias, Cachexia, Supernumerary nipple, Cryptor... ORPHA:217346
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Angiofibromas, Fasting hyperinsulinemi... ORPHA:276152
Nipples, Supernumerary
Supernumerary nipple OMIM:163700
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:98793
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation te... ORPHA:177901
Scarf Syndrome
Bifid scrotum, Wide intermamillary distance, Cryptorchidism, Low anterior hairline, Perineal hypo... OMIM:312830
Burkitt Lymphoma
Gastrointestinal hemorrhage, Neoplasm of the oral cavity, Abnormality of the ovary ORPHA:543
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Cryptorchidism, Hemangioma, Hypoplastic nipples OMIM:618505
49,Xyyyy Syndrome
Eunuchoid habitus, External genital hypoplasia, Abnormality of the testis size, Increased circula... ORPHA:99330
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Medulloblastoma, Hamartomatous ... OMIM:109400
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Barber-Say Syndrome
Sparse or absent eyelashes, Breast aplasia, Hypoplastic nipples, Shawl scrotum, Failure to thrive... ORPHA:1231
Tyshchenko Syndrome
Thick hair, Supernumerary nipple, Cryptorchidism, Low anterior hairline, Pulmonic stenosis OMIM:615102
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Apert Syndrome
Hypertension, Ovarian neoplasm ORPHA:87
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
X-Linked Acrogigantism
Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Increased body mass index,... ORPHA:300373
Orthostatic Hypotension 1
Orthostatic hypotension, Atrial fibrillation, Reduced circulating prolactin concentration, Retrog... OMIM:223360
Peroxisome Biogenesis Disorder 5A (Zellweger)
Aortic regurgitation, Death in infancy, Tricuspid regurgitation, Hypospadias, Small for gestation... OMIM:614866
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Lipodystrophy, Familial Partial, Type 3
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Primary amenorrhea, Pol... OMIM:604367
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Congenital Generalized Lipodystrophy
Overgrowth of external genitalia, Diabetes mellitus, Precocious puberty in females, Congestive he... ORPHA:528
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Dyspareunia, Partial vaginal septum, Metrorrhagia, Abnormal uterine cervix morphology, Dysmenorrh... ORPHA:3411
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Tricuspid regurgitation, Supernumerary nipple, Cryptorchidism, Synophrys, Low posterior hairline,... OMIM:618929
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Neutropenia, Lethal Congenital, With Eosinophilia
Eosinophilia, Neutropenia OMIM:257100
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Small pituitary gland, Delayed... OMIM:612702
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pseudohypoparathyroidism Type 1C
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79444
Limb-Mammary Syndrome
Hypoplastic nipples, Hypohidrosis OMIM:603543
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary arterial hypertension,... ORPHA:2519
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Nablus Mask-Like Facial Syndrome
Wide intermamillary distance, Sparse eyelashes, Highly arched eyebrow, Absent eyelashes, Cryptorc... OMIM:608156
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Angiofibromas, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Ulnar-Mammary Syndrome
Inverted nipples, Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Spar... OMIM:181450
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Crouzon Syndrome
Dysgerminoma OMIM:123500
Hydatidiform Mole
Menometrorrhagia, Miscarriage, Hyperthyroidism, Enlarged uterus ORPHA:99927
Gray Platelet Syndrome
Abnormal bleeding, Epistaxis, Myelodysplasia, Abnormality of the menstrual cycle, Bruising suscep... ORPHA:721
Proteus Syndrome
Pulmonary embolism, Neoplasm of the thymus, Neoplasm of the central nervous system, Neoplasm, Cap... ORPHA:744
Mgat2-Cdg
Abnormal bleeding, Inverted nipples, Abnormality of the endocrine system, Long eyelashes, Hypopla... ORPHA:79329
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Hypospadias, Sparse eyelashes, Supernumerary nipple, Absent eyelashes, Patchy alopecia, Nail dyst... OMIM:106260
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... OMIM:269150
Hereditary Leiomyomatosis And Renal Cell Cancer
Barrett esophagus, Multiple cutaneous leiomyomas, Vaginal neoplasm, Esophageal neoplasm, Papillar... ORPHA:523
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Bone Marrow Failure Syndrome 6
Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphopenia, Anemia OMIM:618849
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea, Female pseudohermaphroditism OMIM:613546
Diamond-Blackfan Anemia 3
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia OMIM:610629
Sialuria
Synophrys, Low posterior hairline, Hypoplastic nipples, Generalized hirsutism, Hirsutism OMIM:269921
Msh3-Related Attenuated Familial Adenomatous Polyposis
Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Astrocytoma, Uterine leiomyoma, Papill... ORPHA:480536
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome
Truncal obesity, Alopecia, Hypospadias, Supernumerary nipple ORPHA:3224
Beta-Thalassemia
Reduced beta/alpha synthesis ratio, Hypochromic microcytic anemia OMIM:613985
Alpha-Thalassemia
Reduced alpha/beta synthesis ratio, Hypochromic microcytic anemia OMIM:604131
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... OMIM:604292
Woods Syndrome
Frontal hirsutism, Supernumerary nipple OMIM:615236
Yunis-Varon Syndrome
Sparse scalp hair, Absent nipple, Hypospadias, Small for gestational age, Failure to thrive in in... OMIM:216340
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Acces Syndrome
Sparse scalp hair, Failure to thrive, Supernumerary nipple OMIM:619959
Solitary Fibrous Tumor
Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Weight loss, Neoplasm of the lung, Neop... ORPHA:2126
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Myelodysplasia, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Leukemia, Micropenis OMIM:619951
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
2P15P16.1 Microdeletion Syndrome
Aortic regurgitation, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Fine ha... ORPHA:261349
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Fair hair, Absence of Stensen duct, Decreased response to growth hormone stimu... OMIM:129900
Pseudohypoparathyroidism Type 1A
Prolonged QT interval, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimu... ORPHA:79443
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Intellectual Developmental Disorder, Autosomal Recessive 65
Cryptorchidism, Hypospadias, Supernumerary nipple OMIM:618109
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:435651
Congenital Factor V Deficiency
Gastrointestinal hemorrhage, Metrorrhagia, Epistaxis, Prolonged bleeding after surgery, Joint hem... ORPHA:326
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Hypospadias, Small for gestational age, Supernumerary nipple, Facial capillary hemangioma, Low an... OMIM:604314
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Synophrys, Supernumerary nipple OMIM:616083
Filippi Syndrome
Cryptorchidism, Supernumerary nipple ORPHA:3255
Van Maldergem Syndrome 2
Bifid scrotum, Hypospadias, Cryptorchidism, High anterior hairline, Hypoplastic nipples, Micropenis OMIM:615546
Incontinentia Pigmenti
Alopecia, Supernumerary nipple, Retinal hemorrhage, Fine hair, Coarse hair, Breast aplasia, Hypop... OMIM:308300
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Mast Cell Sarcoma
Sarcoma, Weight loss ORPHA:66661
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast apla... ORPHA:3044
Skin Creases, Congenital Symmetric Circumferential, 1
Localized neuroblastoma, Wide intermamillary distance, Hypoplastic nipples OMIM:156610
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypoplasia of penis, Supernumerary nipple, Cryptorchidism, Fine hair, Hypohidrosis, Hypothyroidis... ORPHA:1812
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Increased circulating dehydroepiandrosterone-sulfate concentration, ... OMIM:158330
Short-Rib Thoracic Dysplasia 12
Wide intermamillary distance, Hamartoma of tongue, Neonatal death, Hypoplastic nipples, Ambiguous... OMIM:269860
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Developmental And Epileptic Encephalopathy 51
Failure to thrive, Supernumerary nipple OMIM:617339
Trichohepatoneurodevelopmental Syndrome
Curly hair, Woolly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Recurrent p... OMIM:618268
Alg9-Cdg
Inverted nipples, Tricuspid regurgitation, Low posterior hairline, Bicornuate uterus, Hypoplasia ... ORPHA:79328
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Elevated circulating growth hormone concentration, Enlarged polycystic ovaries, Insulin-resistant... ORPHA:90301
Cowden Syndrome 6
Hyperthyroidism, Subcutaneous lipoma, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, ... OMIM:615109
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... ORPHA:143
Bainbridge-Ropers Syndrome
Death in infancy, Thick eyebrow, Supernumerary nipple, Highly arched eyebrow, Precocious puberty,... OMIM:615485
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Czeizel-Losonci Syndrome
Wide intermamillary distance, Hypoplastic nipples ORPHA:2437
Rapp-Hodgkin Syndrome
Hypospadias, Sparse eyelashes, Supernumerary nipple, Slow-growing hair, Sparse eyebrow, Fine hair... OMIM:129400
Cornelia De Lange Syndrome 1
Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophrys, Low posterior hai... OMIM:122470
Ring Chromosome 12 Syndrome
Small for gestational age, Cryptorchidism, Glandular hypospadias, Uterine leiomyoma, Dystrophic t... ORPHA:1439
Cowden-Like syndrome
Endometrial carcinoma, Uterine leiomyoma, Papillary thyroid carcinoma, Breast carcinoma OMIM:612359
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Failure to thrive, Premature ovarian insufficiency, Female infertility OMIM:619518
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Yellow Nail Syndrome
Renal neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Pulmonary arterial hypertension, Sa... ORPHA:662
21Q22.11Q22.12 Microdeletion Syndrome
Nail dystrophy, Failure to thrive in infancy, Hypoplastic nipples ORPHA:261323
Diamond-Blackfan Anemia 4
Erythroid hypoplasia, Macrocytic anemia, Reticulocytopenia, Neutropenia OMIM:612527
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Precocious puberty, Abnormality of the endocrine system, Cry... ORPHA:636
Congenital Factor X Deficiency
Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery... ORPHA:328
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Glucocorticoid Resistance, Generalized
Irregular menstruation, Increased circulating ACTH level, Hypertension, Increased circulating cor... OMIM:615962
Multiple Pterygium Syndrome, Escobar Variant
Exostosis of the external auditory canal, Hypospadias, Cryptorchidism, Absence of labia majora, H... OMIM:265000
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Kleefstra Syndrome
Hypoplasia of penis, Hypospadias, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Sy... ORPHA:261494
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
2Q37 Microdeletion Syndrome
Sparse scalp hair, Wide intermamillary distance, Highly arched eyebrow, Supernumerary nipple, Spa... ORPHA:1001
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Afibrinogenemia, Congenital
Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Prolonged bleed... OMIM:202400
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Shortened QT interval, Fibroma, ... ORPHA:99880
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Frontal balding, Precocious puberty, Incre... ORPHA:786
Tuberous Sclerosis 2
Wolff-Parkinson-White syndrome, Chordoma, Astrocytoma, Angiofibromas, Precocious puberty, Retinal... OMIM:613254
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Chromosome 1Q41-Q42 Deletion Syndrome
Sparse eyebrow, Cryptorchidism, Supernumerary nipple OMIM:612530
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
African Trypanosomiasis
Abnormal EKG, Pericarditis, Alopecia, Miscarriage, Abnormality of the menstrual cycle, Abnormalit... ORPHA:3385
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... ORPHA:199
Monosomy 22
Aplasia of the thymus, Schwannoma, Synophrys, Hyperhidrosis, Gonadal neoplasm, Sparse hair, Micro... ORPHA:96123
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Turner Syndrome Due To Structural X Chromosome Anomalies
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... ORPHA:99413
Turner Syndrome
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... ORPHA:881
Mosaic Monosomy X
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... ORPHA:99228
Monosomy X
Myocardial infarction, Aplasia/Hypoplasia of the nipples, Hashimoto thyroiditis, Wide intermamill... ORPHA:99226
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Highly arched eyebrow, Large for gestational age, Low-set nipples, Fine hair, Hydrocele testis, A... OMIM:280000
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Breast carcinoma, Hamartomatous polyposis, Ovarian cyst, Intestinal ble... OMIM:175200
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Bohring-Opitz Syndrome
Wide intermamillary distance, Thick hair, Supernumerary nipple, Low anterior hairline, Hypertrich... OMIM:605039
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Postaxial Acrofacial Dysostosis
Supernumerary nipple ORPHA:246
Myotonic Dystrophy 2
Tachycardia, Frontal balding, Premature ventricular contraction, Right bundle branch block, Oligo... OMIM:602668
Milroy Disease
Hydrocele testis, Neoplasm of the skin, Angiosarcoma ORPHA:79452
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:300946
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Alopecia, Streak ovary, Hypoplasia of the fallopian t... ORPHA:3464
Johanson-Blizzard Syndrome
Sparse scalp hair, Diabetes mellitus, Hypospadias, Small for gestational age, Septate vagina, Por... OMIM:243800
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Abnormality of the mens... ORPHA:90308
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Trisomy 12P
Thick eyebrow, Supernumerary nipple ORPHA:1699
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Abnormal reproductive system morphology, Sparse eyebrow, Apla... ORPHA:1521
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypoplastic nipples, Sparse hair, Breast hypoplasia OMIM:230740
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Obesity, Hypertensio... OMIM:209900
Hb Bart'S Hydrops Fetalis
Splenomegaly, Abnormal hemoglobin, Anemia ORPHA:163596
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Inverted nipples, Supernumerary nipple, Sparse eyebrow, Synophrys, High anterior hairline, Thick ... OMIM:620098
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Hypospadias, External genital hypoplasia, Ovotestis, Carcinoma, Nail dystrop... OMIM:610644
Familial Adenomatous Polyposis
Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad... ORPHA:733
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Char Syndrome
Supernumerary nipple ORPHA:46627
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly
Supernumerary nipple OMIM:614376
Retinoblastoma
Glioma, Rhabdomyosarcoma, Subretinal pigment epithelium hemorrhage, Lymphoma, Hyphema, Pineoblast... ORPHA:790
Multiple Endocrine Neoplasia, Type I
Subcutaneous lipoma, Pancreatic islet cell adenoma, Elevated circulating growth hormone concentra... OMIM:131100
Acromesomelic Dysplasia, Grebe Type
Death in infancy, Sarcoma ORPHA:2098
Ppoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... ORPHA:97278
Grfoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Subcutaneous lipoma, Elevated circulating ... ORPHA:97261
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Frontal upsweep of hair, Micropenis, Sparse medial eyebrow OMIM:610954
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features
Supernumerary nipple OMIM:616579
Hereditary Methemoglobinemia
Athetosis, Methemoglobinemia ORPHA:621
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Obesity, Heart murmur, Micropenis OMIM:618653
Carpenter Syndrome 2
Wide intermamillary distance, Tricuspid regurgitation, Supernumerary nipple, Highly arched eyebro... OMIM:614976
Nmda Receptor Encephalitis
Ovarian teratoma, Orthostatic hypotension, Neoplasm of the thymus, Hodgkin lymphoma, Neoplasm of ... ORPHA:217253
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Wide intermamillary distance, Decreased response to growth hormone stimulation test, Supernumerar... OMIM:213980
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Renal cell carcinoma, Uterine leiomyoma,... OMIM:150800
Primary Familial Polycythemia
Polycythemia, Abnormal hemoglobin ORPHA:90042
Postaxial Acrofacial Dysostosis
Cryptorchidism, Micropenis, Supernumerary nipple OMIM:263750
Wiskott-Aldrich Syndrome
Intracranial hemorrhage, Neoplasm, Hypoplasia of the thymus, Internal hemorrhage, Prolonged bleed... ORPHA:906
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Chordee OMIM:616728
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Inverted nipples, Wide intermamillary distance, Miscarriage, External genital hypoplasia, Large f... ORPHA:96334
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Widow's... OMIM:305400
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Beta-Thalassemia Intermedia
Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate production, Splenom... ORPHA:231222
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Abnor... ORPHA:1018
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, Follicular thyroid carcinoma, E... ORPHA:97282
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis, Failure to thrive ORPHA:2896
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Vertebral Hypersegmentation And Orofacial Anomalies
Widow's peak, Supernumerary nipple OMIM:619122
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... ORPHA:54251
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Au-Kline Syndrome
Inverted nipples, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Hypertensio... OMIM:616580
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Fibroma, Mitral regurgitation, Hypothyroidism, Hypertrichosis OMIM:619750
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Angina pectoris, Cachexia, Visceral angiomatosis, Lymphoma, Telan... ORPHA:109
Somatostatinoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... ORPHA:97283
Teratoma, Ovarian
Ovarian teratoma OMIM:166950
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Hypoplasia of penis, Death in infancy, Hypospadias, N... ORPHA:373
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Sparse scalp hair, Hypospadias, Supernumerary nipple, Sparse eyebrow, Cryptorchidism, Synophrys, ... ORPHA:477993
3Mc Syndrome
Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple ORPHA:293843
Incontinentia Pigmenti
Alopecia, Telangiectasia of the skin, Supernumerary nipple, Abnormal hair morphology, Congestive ... ORPHA:464
Developmental Delay With Or Without Dysmorphic Facies And Autism
Small scrotum, Supernumerary nipple, Highly arched eyebrow, Cryptorchidism, Microphallus, Pulmona... OMIM:618454
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Dilated third ventricle, Failure... ORPHA:397715
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin
Persistence of hemoglobin F, Broad-based gait, Limb ataxia, Truncal ataxia OMIM:617101
Desmoid Tumor
Gastrointestinal hemorrhage, Fibroma, Neoplasm of the skin, Desmoid tumors ORPHA:873
Hyperphosphatasia-Intellectual Disability Syndrome
Highly arched eyebrow, Supernumerary nipple, Telangiectasia ORPHA:247262
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Congestive heart failure, Irregular menstruation, Uterine leiomyoma, Neonatal death, Pulmonary ar... OMIM:616482
Interstitial Cystitis
Dyspareunia, Abnormal vagina morphology, Abnormal labia morphology, Abnormality of the menstrual ... ORPHA:37202
Focal Dermal Hypoplasia
Brittle hair, Supernumerary nipple, Cryptorchidism, Telangiectasia, Clitoral hypoplasia, Patchy a... OMIM:305600
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Ablepharon-Macrostomia Syndrome
Absent eyebrow, Absent eyelashes, Hypoplastic labia majora, Sparse hair, Hypoplastic nipples, Amb... OMIM:200110
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Abnormal cardiac ventricular function, Tricuspid regurgitation, Anterior pituitary hypoplasia, Su... ORPHA:466791
Retinoblastoma
Lymphoma, Vitreous hemorrhage, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Supernumerary nipple ORPHA:457279
Crimean-Congo Hemorrhagic Fever
Bundle branch block, Hyperhidrosis, Abnormal left ventricular function, Ecchymosis, Internal hemo... ORPHA:99827
Tuberous Sclerosis Complex
Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui... ORPHA:805
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Glucagonoma
Gastrointestinal hemorrhage, Neoplasm of the pancreas, Diabetes mellitus, Subcutaneous lipoma, El... ORPHA:97280
Inhalational Anthrax
Internal hemorrhage, Hypotension, Abnormal sweat gland morphology ORPHA:247257
Adams-Oliver Syndrome 1
Alopecia, Supernumerary nipple, Hypertension, Pulmonic stenosis, Pulmonary arterial hypertension,... OMIM:100300
Terminal Osseous Dysplasia
Fibroma OMIM:300244
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Oculoectodermal Syndrome
Hypertrophic cardiomyopathy, Transient ischemic attack, Supernumerary nipple, Pineal cyst OMIM:600268
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,... OMIM:618419
Chromosome 13Q14 Deletion Syndrome
Cryptorchidism, Micropenis, Retinoblastoma, Supernumerary nipple OMIM:613884
Diamond-Blackfan Anemia 6
Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume OMIM:612561
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Histiocytoma, Premature graying of hair, Fibrosarcoma, Bruising susceptibility, Osteosarcoma OMIM:112250
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Cryptorchidism, High anterior hairline, Capillary hemangioma, Supernumerary nipple OMIM:619194
Staphylococcal Necrotizing Pneumonia
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Le... ORPHA:36238
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Prolonged prothrombin time, Neoplasm, Macular purpura, Internal h... ORPHA:49566
Fanconi Anemia, Complementation Group E
Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:600901
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Dominant Beta-Thalassemia
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anisocytosis, ... ORPHA:231226
Leiomyoma, Uterine
Uterine leiomyoma OMIM:150699
Psoriasis 14, Pustular
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration OMIM:614204
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina, Amenorrhea OMIM:277000
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Curly hair, Abnormal circulating thyroid hormone concentration, Cyst of the ductus choledochus, C... ORPHA:480880
Beta-Thalassemia Major
Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentration, Anemia of inad... ORPHA:231214
Herpes Simplex Virus Encephalitis
Hyponatremia, Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1930
Lymphedema-Distichiasis Syndrome
Fibrosarcoma, Arrhythmia, Diabetes mellitus, Distichiasis ORPHA:33001
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inverted nipples, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Hypothyroidism ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inverted nipples, Supernumerary nipple, Cryptorchidism, Hyperhidrosis, Hypothyroidism ORPHA:352665
Fanconi Anemia, Complementation Group A
Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:227650
Cryptogenic Organizing Pneumonia
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration ORPHA:1302
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma ORPHA:44890
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
HbH hemoglobin, Microcytic anemia ORPHA:98791
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Hypohidrosis, Coarse hair, Sparse hair, D... ORPHA:1071
Fanconi Anemia, Complementation Group C
Short stature, Small for gestational age, Cryptorchidism, Prolonged G2 phase of cell cycle, Intra... OMIM:227645
Oliver Syndrome
Thick eyebrow, Supernumerary nipple ORPHA:2920
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Adult-Onset Still Disease
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... ORPHA:829
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Supernumerary nipple ORPHA:1236
Diamond-Blackfan Anemia
Acute myeloid leukemia, Thrombocytosis, Pure red cell aplasia, Erythroid hypoplasia, Reticulocyto... ORPHA:124
3Mc Syndrome 1
Conjunctival telangiectasia, Synophrys, Highly arched eyebrow, Supernumerary nipple OMIM:257920
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Elevated circulating C-... OMIM:617099
Aicardi Syndrome
Precocious puberty, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemangi... OMIM:304050
Shwachman-Diamond Syndrome 1
Acute myeloid leukemia, Pancytopenia, Persistence of hemoglobin F, Anemia, Neutropenia, Thrombocy... OMIM:260400
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, HbH hemoglobin ORPHA:423479
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Teratoma, Abnormal pituitary gland morphology, Decreased body w... ORPHA:314621
Acquired Methemoglobinemia
Methemoglobinemia ORPHA:464453
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Simpson-Golabi-Behmel Syndrome, Type 1
Wide intermamillary distance, Hypospadias, Nephroblastoma, Supernumerary nipple, Short nail, Cryp... OMIM:312870
Lead Poisoning
Decreased HDL cholesterol concentration, Imbalanced hemoglobin synthesis, Abnormal T cell morphol... ORPHA:330015
Sweet Syndrome
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... ORPHA:3243
Branchiooculofacial Syndrome
Wide intermamillary distance, Hypospadias, Supernumerary nipple, Cryptorchidism, Low posterior ha... OMIM:113620
Fanconi Anemia, Complementation Group D2
Small for gestational age, Short stature, Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia OMIM:227646
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Splenomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration OMIM:612852
Thymoma
Leukemia, Aplastic anemia, Pure red cell aplasia, Imbalanced hemoglobin synthesis ORPHA:99867
Hemorrhagic Fever-Renal Syndrome
Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype... ORPHA:340
Marburg Hemorrhagic Fever
Abnormal bleeding, Shock, Tachycardia, Pericarditis, Excessive bleeding after a venipuncture, Orc... ORPHA:99826
Acute Generalized Exanthematous Pustulosis
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia ORPHA:293173
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Hypospadias, Sparse eyelashes, Supernumerary nipple, ... OMIM:601803
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Persistence of hemoglobin F OMIM:619769
Mowat-Wilson Syndrome
Bifid scrotum, Hypospadias, Supernumerary nipple, Cryptorchidism, Pulmonic stenosis, Broad eyebrow OMIM:235730
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome
Abnormal hemoglobin, Anemia ORPHA:847
Meige Disease
Angiosarcoma ORPHA:90186
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Reduced alpha/beta synthesis ratio, HbH hemoglobin, Hypochromic microcytic anemia OMIM:301040
Familial Mediterranean Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Splenomegaly, Leukocytosis, ... OMIM:249100
Pneumocystosis
Abnormal neutrophil count ORPHA:723
Yellow Fever
Abnormal bleeding, Shock, Acute pancreatitis, Supraventricular arrhythmia, Excessive bleeding aft... ORPHA:99829
Hellp Syndrome
Cerebral hemorrhage, Increased body weight, Prolonged prothrombin time, Hypotension, Internal hem... ORPHA:244242
Superficial Siderosis
Abnormal bleeding, Subarachnoid hemorrhage, Neoplasm of the central nervous system, Persistent bl... ORPHA:247245
Vascular Ehlers-Danlos Syndrome
Abnormal bleeding, Alopecia, Telangiectasia of the skin, Transient ischemic attack, Hypospadias, ... ORPHA:286
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Schwannoma, Ossifying fibroma, Mitral regurgitation, Hemangioma, Pulmonic stenosis, Lisch nodules... ORPHA:363700

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 Lats1

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 Lats1.

No publications found that use IMPC mice or data for Lats1.

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MGI Allele Allele Type Produced
Lats1em1(IMPC)H Exon Deletion Mice
Lats1em2(IMPC)H Exon Deletion Mice

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