Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Brca1 MGI:104537

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

breast cancer 1, early onset

Synonyms:

N/A

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

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 Brca1 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.

Human diseases associated with Brca1 (7 diseases)
Human diseases predicted to be associated with Brca1 (945 diseases)

The table below shows human diseases associated to Brca1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Ovarian neoplasm, Breast carcinoma	OMIM:604370
Fanconi Anemia, Complementation Group S	Chromosome breakage	OMIM:617883
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper...	ORPHA:84
Familial Pancreatic Carcinoma	Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Exocrine ...	ORPHA:1333
Cholangiocarcinoma	Biliary tract neoplasm, Acholic stools, Anorexia, Jaundice, Pruritus	ORPHA:70567
Primary Peritoneal Carcinoma	Neoplasm	ORPHA:168829

The table below shows human diseases predicted to be associated to Brca1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility	OMIM:619145
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi...	OMIM:619528
Spermatogenic Failure 25	Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation...	OMIM:617960
Partial Chromosome Y Deletion	Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal...	ORPHA:1646
Spermatogenic Failure 30	Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility	OMIM:618110
Spermatogenic Failure 32	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:619672
Spermatogenic Failure 88	Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest	OMIM:620547
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility	OMIM:619937
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility	OMIM:619108
Isochromosomy Yp	Decreased testicular size, Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Male ...	ORPHA:98797
Spermatogenic Failure 22	Cryptozoospermia, Non-obstructive azoospermia, Male infertility	OMIM:617706
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Spermatogenic Failure 23	Azoospermia, Male infertility	OMIM:617707
Spermatogenic Failure 70	Azoospermia, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:619828
Spermatogenic Failure 12	Infertility, Azoospermia, Abnormal male germ cell morphology	OMIM:615413
Spermatogenic Failure 29	Non-obstructive azoospermia, Immotile sperm, Male infertility	OMIM:618091
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Isochromosomy Yq	Varicocele, Decreased testicular size, Azoospermia, Gonadal tissue inappropriate for external gen...	ORPHA:98798
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Non-obstructive azoospermia, Decreased testicular size, Azoospermia, Abn...	ORPHA:399805
Spermatogenic Failure 35	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe...	OMIM:618341
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 8	Cryptozoospermia, Azoospermia, Oligozoospermia	OMIM:613957
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
Spermatogenic Failure 63	Decreased testicular size, Reduced progressive sperm motility, Male infertility, Oligozoospermia	OMIM:619689
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Spermatogenic Failure 72	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe...	OMIM:619867
Spermatogenic Failure 34	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A...	OMIM:618153
Spermatogenic Failure 33	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618152
Spermatogenic Failure 37	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:618429
Spermatogenic Failure 18	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:617576
Spermatogenic Failure 46	Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit...	OMIM:619095
Spermatogenic Failure 27	Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s...	OMIM:617965
Spermatogenic Failure, X-Linked, 3	Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Abs...	OMIM:301059
Spermatogenic Failure, X-Linked, 5	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:301099
Spermatogenic Failure 43	Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 82	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Spermatogenic Failure 84	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Bent spe...	OMIM:620409
Spermatogenic Failure 65	Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnormal sperm mid-piece morph...	OMIM:619712
Spermatogenic Failure 40	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility, C...	OMIM:618664
Spermatogenic Failure 1	Cryptozoospermia, Male infertility, Oligozoospermia	OMIM:258150
Spermatogenic Failure 80	Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,...	OMIM:620222
Spermatogenic Failure 76	Irregularly shaped sperm tail, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Abs...	OMIM:620084
Spermatogenic Failure 54	Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol...	OMIM:619379
Spermatogenic Failure 56	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s...	OMIM:619515
Spermatogenic Failure 47	Immotile sperm, Short sperm flagella, Absent sperm flagella, Oligozoospermia, Male infertility	OMIM:619102
Spermatogenic Failure 17	Male infertility	OMIM:617214
Spermatogenic Failure 39	Tapered sperm head, Short sperm flagella, Oligozoospermia, Reduced sperm motility, Absent sperm f...	OMIM:618643
Spermatogenic Failure 58	Irregularly shaped sperm tail, Reduced progressive sperm motility, Immotile sperm, Short sperm fl...	OMIM:619585
Spermatogenic Failure 79	Reduced sperm motility, Coiled sperm flagella, Male infertility, Oligozoospermia	OMIM:620196
Spermatogenic Failure 11	Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:614822
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Spermatogenic Failure 41	Tapered sperm head, Immotile sperm, Short sperm flagella, Oligozoospermia, Male infertility	OMIM:618670
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti...	OMIM:620354
Male Infertility Due To Acephalic Spermatozoa	Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili...	ORPHA:529970
Spermatogenic Failure 42	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce...	OMIM:618745
Spermatogenic Failure 78	Microcephalic sperm head, Tapered sperm head, Male infertility	OMIM:620170
Deleted in azoospermia	Azoospermia	OMIM:400003
Spermatogenic Failure 7	Immotile sperm, Reduced sperm motility, Male infertility, Oligozoospermia	OMIM:612997
Spermatogenic Failure 5	Multiflagellar spermatozoa, Macrozoospermia, Male infertility	OMIM:243060
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 64	Abnormal sperm head morphology, Reduced progressive sperm motility, Male infertility, Oligozoospe...	OMIM:619696
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Decreased testicular size, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatogenesis...	ORPHA:399808
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Spermatogenic Failure 86	Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma...	OMIM:620499
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Tapered sperm head, Male infertility	OMIM:619258
Spermatogenic Failure 87	Ruffled acrosome, Male infertility	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 2	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Azoospermia, Abnorm...	OMIM:108420
Spermatogenic Failure 51	Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Microcephalic sperm hea...	OMIM:619177
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 3	Male infertility, Reduced sperm motility	OMIM:606766
Spermatogenic Failure, Y-Linked, 1	Male infertility, Reduced sperm motility	OMIM:400042
Spermatogenic Failure 55	Male infertility, Reduced sperm motility	OMIM:619380
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Immotile sperm, Male infertility	OMIM:608653
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm head morphology, Abnormal spermatogenesis, Male infertilit...	OMIM:611102
Spermatogenic Failure 77	Abnormal circulating testosterone concentration, Azoospermia, Multiflagellar spermatozoa, Cryptor...	OMIM:620103
Spermatogenic Failure 15	Abnormal circulating testosterone concentration, Non-obstructive azoospermia, Abnormal circulatin...	OMIM:616950
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Spinocerebellar Ataxia Type 32	Testicular atrophy, Azoospermia, Male infertility	ORPHA:276183
Spermatogenic Failure, X-Linked, 6	Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph...	OMIM:301101
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Ring Chromosome Y Syndrome	Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ...	ORPHA:261529
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hemangioma, Papilloma, Pap...	OMIM:616858
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Spermatogenic Failure 44	Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreased testicular size...	OMIM:619044
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility	OMIM:620277
Persistent Mullerian Duct Syndrome, Types I And Ii	Decreased cirrculating antimullerian hormone circulation, Male infertility, Bilateral cryptorchidism	OMIM:261550
Spermatogenic Failure 28	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Decre...	OMIM:618086
Spermatogenic Failure 38	Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motility, Tapered sperm...	OMIM:618433
Frontal Encephalocele	Hydrocephalus, Encephalocele, Spina bifida	ORPHA:1931
Spermatogenic Failure, X-Linked, 7	Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper...	OMIM:301106
Spermatogenic Failure 85	Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi...	OMIM:620490
Spermatogenic Failure 14	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615842
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Infertility, Abnormality of skin pigmentation	OMIM:300719
Congenital Bilateral Absence Of Vas Deferens	Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility	ORPHA:48
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Azoospermia, Absent vas deferens, Male infertility	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Absent vas deferens, Male infertility	OMIM:277180
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Isolated Follicle Stimulating Hormone Deficiency	Decreased serum estradiol, Male hypogonadism, Decreased serum testosterone concentration, Decreas...	ORPHA:52901
Hypogonadism, Male	Micropenis, Male hypogonadism, Hypospadias, Testicular atrophy	OMIM:241100
Angioma, Tufted	Tufted angioma, Abnormality of skin pigmentation	OMIM:607859
Spermatogenic Failure 6	Decreased acrosin in sperm head, Globozoospermia, Male infertility	OMIM:102530
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Shor...	ORPHA:241
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Elevated circulating luteinizing hormone level, Hypogonadism, Decreased testicular size, Azoosper...	OMIM:229070
Premature Ovarian Failure 10	Elevated circulating luteinizing hormone level, Decreased testicular size, Azoospermia, Hypoplasi...	OMIM:612885
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida	ORPHA:945
Carney Complex	Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating prolactin conc...	ORPHA:1359
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4	Abnormality of chromosome stability	OMIM:620153
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Spermatogenic Failure 13	Abnormal circulating testosterone concentration, Azoospermia, Abnormal circulating luteinizing ho...	OMIM:615841
Morbid Obesity And Spermatogenic Failure	Azoospermia, Obesity, Type II diabetes mellitus, Oligozoospermia, Infertility	OMIM:615703
Ciliary Dyskinesia, Primary, 50	Reduced progressive sperm motility, Short sperm flagella, Absent inner dynein arms, Reduced sperm...	OMIM:620356
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Spermatogenic Failure 24	Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Coile...	OMIM:617959
Trichohepatoenteric Syndrome 2	Sparse hair, Failure to thrive, Trichorrhexis nodosa, Villous atrophy, Chronic hepatitis, Cirrhos...	OMIM:614602
Spermatogenic Failure, X-Linked, 4	Elevated circulating luteinizing hormone level, Decreased serum testosterone concentration, Azoos...	OMIM:301077
Young Syndrome	Azoospermia	OMIM:279000
Erythrokeratoderma ''En Cocardes''	Neoplasm of the skin, Neoplasm, Abnormality of skin pigmentation	ORPHA:315
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Anencephaly, Spina bifida	ORPHA:2476
Netherton Syndrome	Allergic rhinitis, Brittle scalp hair, Sparse eyebrow, Failure to thrive, Eczematoid dermatitis, ...	OMIM:256500
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Androgen Insensitivity, Partial	Absent vas deferens, Perineal hypospadias, Bifid scrotum, Hypogonadism, Azoospermia, Cryptorchidi...	OMIM:312300
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Male hypogonadism, Decreased circulating dihydrotestosterone concentration, Abnormality of the Le...	OMIM:228300
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Decreased testicular size, Azoospermia, Absence of pubertal development, Cryptorchidism, Hypogona...	OMIM:614837
Familial Peripheral Male-Limited Precocious Puberty	Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility	ORPHA:3000
Adrenal Hypoplasia, Congenital	Precocious puberty, Failure to thrive, Absence of pubertal development, Azoospermia, Adrenal insu...	OMIM:300200
Diarrhea 5, With Tufting Enteropathy, Congenital	Failure to thrive, Villous atrophy, Arthritis, Crypt hyperplasia, Small for gestational age	OMIM:613217
Hydrocephalus-Obesity-Hypogonadism Syndrome	Azoospermia, Obesity, Abnormality of the hypothalamus-pituitary axis, Hypergonadotropic hypogonadism	ORPHA:2183
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum estradiol, Hypogonadism, Decreased testicular size, Azoospermia, Decreased serum ...	OMIM:614897
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Failure to thrive, Hepatitis, Eczematoid dermatitis, Villous atrophy, Ileus, Hypothyroi...	OMIM:304790
Ciliary Dyskinesia, Primary, 51	Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Oligozoo...	OMIM:620438
Gonadoblastoma	Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Hirsutism, Ambiguous gen...	ORPHA:206484
Ossification Of The Posterior Longitudinal Ligament Of Spine	Myelopathy, Spinal cord compression	OMIM:602475
Caudal Duplication	Myelomeningocele, Spinal cord lesion, Spina bifida	ORPHA:1756
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Small scrotum, Decreased serum testosterone concentration, Decreased testicular size, Azoospermia...	OMIM:308700
Nevus Comedonicus Syndrome	Spina bifida occulta, Spina bifida	ORPHA:64754
Congenital Herpes Simplex Virus Infection	Intrauterine growth retardation, Hydranencephaly	ORPHA:293
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Schisis Association	Anencephaly, Encephalocele, Spina bifida	ORPHA:63862
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Failure to thrive, Hypohidrosis, Erythroderma, Pruritus, Abnormality of the ...	ORPHA:79394
Spermatogenic Failure, X-Linked, 1	Sertoli cell-only phenotype, Obesity	OMIM:305700
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Syringomyelia, Hydrocephalus, Spina bifida	OMIM:207950
Inflammatory Skin And Bowel Disease, Neonatal, 1	Blepharitis, Failure to thrive, Villous atrophy, Pustule, Erythroderma, Onychogryposis, Duodeniti...	OMIM:614328
Ichthyosis, Hystrix-Like, With Deafness	Sparse eyebrow, Sparse eyelashes, Absent eyelashes, Punctate keratitis, Squamous cell carcinoma, ...	OMIM:602540
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Cellulitis, Alopecia universalis, Eczematoid dermatitis, Failure to thrive in infancy, Hepatosple...	OMIM:606367
Normosmic Congenital Hypogonadotropic Hypogonadism	Male hypogonadism, Absence of secondary sex characteristics, Non-obstructive azoospermia, Decreas...	ORPHA:432
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly	ORPHA:63260
Kennedy Disease	Testicular atrophy, Type II diabetes mellitus, Decreased fertility, Erectile dysfunction	ORPHA:481
Hemochromatosis, Type 2A	Hypogonadotropic hypogonadism, Azoospermia, Infertility, Amenorrhea	OMIM:602390
Ichthyosis With Confetti	Hypertrichosis, Decreased body weight, Hypoplastic nipples, Erythroderma, Pruritus	OMIM:609165
Trichothiodystrophy 1, Photosensitive	Small nail, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Absence of subcutaneous fat, Nai...	OMIM:601675
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous ab...	ORPHA:499
Coffin-Siris Syndrome 8	Self-injurious behavior, Failure to thrive, Eczematoid dermatitis, Hypertrichosis, Long eyelashes...	OMIM:618362
Hemihyperplasia, Isolated	Myelomeningocele	OMIM:235000
Leukoencephalopathy With Dystonia And Motor Neuropathy	Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Testicular Regression Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,...	ORPHA:983
Ovarian Fibrothecoma	Abnormality of the ovary, Gonadal calcification, Diffuse leiomyomatosis, Hirsutism, Abnormal endo...	ORPHA:314478
Acropectorovertebral Dysplasia	Spina bifida	ORPHA:957
Partial Androgen Insensitivity Syndrome	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Increased serum estradiol, ...	ORPHA:90797
Uterine Anomalies	Bicornuate uterus, Abnormality of the uterus	OMIM:192000
Secondary Short Bowel Syndrome	Central hypothyroidism, Volvulus, Failure to thrive, Cholestasis, Villous atrophy, Abnormal small...	ORPHA:95427
Albinism, Oculocutaneous, Type Iii	Albinism, Red hair, Partial albinism	OMIM:203290
Pityriasis Rubra Pilaris	Subungual hyperkeratosis, Irregular hyperpigmentation, Eczematoid dermatitis, Neoplasm, Pustule, ...	ORPHA:2897
Syndromic Diarrhea	Hepatic fibrosis, Small for gestational age, Trichorrhexis nodosa, Abnormality of the liver, Vill...	ORPHA:84064
Joubert Syndrome 15	Exencephaly	OMIM:614464
Syndromic X-Linked Intellectual Disability 7	Sparse body hair, Hypogonadism, Obesity, Cryptorchidism, Micropenis, Hypoplasia of penis	ORPHA:85274
46,Xx Sex Reversal 2	Small scrotum, Elevated circulating luteinizing hormone level, Perineal hypospadias, Bifid scrotu...	OMIM:278850
Sézary Syndrome	Neoplasm of the skin, Alopecia, Irregular hyperpigmentation, Lymphoma, Nail dystrophy, Erythroder...	ORPHA:3162
Immunodeficiency, Common Variable, 8, With Autoimmunity	Atrophic gastritis, Pneumonia, Inflammation of the large intestine, Recurrent pneumonia, Failure ...	OMIM:614700
Aplasia Cutis Congenita	Spinal dysraphism	ORPHA:1114
46,Xy Partial Gonadal Dysgenesis	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,...	ORPHA:251510
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Agitation, Bilateral cryptorchidism	OMIM:618840
Obesity Due To Prohormone Convertase I Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypopigmentation of the skin, Failure to thrive, Decreased response to growth hormone stimulation...	ORPHA:71526
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Lymphoma, Hypothyroidism, Erythroderma, Aplasia/Hypoplasi...	ORPHA:39041
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular...	ORPHA:1916
Diarrhea 12, With Microvillus Atrophy	Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules	OMIM:619445
Diarrhea 9	Villous atrophy, Failure to thrive	OMIM:618168
Neural Tube Defects, Susceptibility To	Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus	OMIM:182940
Peeling Skin Syndrome 1	Nail dystrophy, Onycholysis, Erythroderma, Palmoplantar hyperhidrosis, Brittle hair, Pruritus	OMIM:270300
Diarrhea 7, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Villous atrophy, Failure to thrive	OMIM:615863
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Clitoral hypertrophy, Abnormal labia majora morphology, Cryptorchidism, Mal...	ORPHA:90791
Acquired Hypertrichosis Lanuginosa	Neoplasm of the respiratory system, Fine hair, Abnormal eyebrow morphology, Neoplasm, Generalized...	ORPHA:2221
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Azoospermia, Bicornuate uterus, Aplasia/hypoplasia of the uterus	ORPHA:2578
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Sparse eyebrow, Fine ...	ORPHA:189
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type	Obesity, Thick eyebrow, Cryptorchidism	OMIM:309585
Adenocarcinoma Of The Esophagus	Barrett esophagus, Obesity, Esophageal carcinoma	ORPHA:99976
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage	OMIM:278780
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Hypopigmented skin patches, Progressive hyperpigmentati...	ORPHA:330064
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy	OMIM:251850
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Arthrogryposis multiplex congenita, Failure to thrive...	OMIM:601110
Isolated Anencephaly/Exencephaly	Anencephaly	ORPHA:1048
X-Linked Intellectual Disability, Stocco Dos Santos Type	Hyperactivity, Small for gestational age, Hirsutism	ORPHA:85288
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Intrauterine growth retardation, Abnormality of chromosome stability	OMIM:600546
Bathing Suit Ichthyosis	Alopecia, Nail dystrophy, Multiple joint contractures, Hypohidrosis, Erythroderma, Sparse hair	ORPHA:100976
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
49,Xyyyy Syndrome	Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De...	ORPHA:99330
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Abnormal fallopian tube morphology, Primary peritoneal carcinoma, Ovar...	ORPHA:145
Hydatidiform Mole	Enlarged uterus	ORPHA:99927
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Coarse hair, Eczematoid dermatitis, Acne inversa, Trichorrhexis nodosa, Furrow...	OMIM:301845
Piebald Trait-Neurologic Defects Syndrome	Neoplasm of the skin, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow m...	ORPHA:2885
Hepatic Adenomas, Familial	Hepatocellular adenoma, Polycystic ovaries	OMIM:142330
Netherton Syndrome	Sparse eyebrow, Irregular hyperpigmentation, Eczematoid dermatitis, Fine hair, Abnormal hair morp...	ORPHA:634
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
47,Xyy Syndrome	Varicocele, Azoospermia, Cryptorchidism, Increased serum testosterone level, Oligozoospermia, Inc...	ORPHA:8
Griscelli Syndrome, Type 2	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Hepat...	OMIM:607624
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Obesity, Streak ovary, Cryptorchidism, Nep...	OMIM:194072
46,Xx Sex Reversal 1	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Azoospermia, True hermaphro...	OMIM:400045
Autoinflammation With Infantile Enterocolitis	Skin rash, Villous atrophy, Enterocolitis, Failure to thrive	OMIM:616050
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Scarring, Recurre...	ORPHA:346
Refractory Celiac Disease	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Inflammatory...	ORPHA:398063
Ciliary Dyskinesia, Primary, 40	Infertility, Azoospermia, Absent outer dynein arms	OMIM:618300
Congenital Tufting Enteropathy	Cholestatic liver disease, Failure to thrive, Abnormal large intestinal mucosa morphology, Villou...	ORPHA:92050
Isolated Klippel-Feil Syndrome	Spina bifida	ORPHA:2345
Alazami-Yuan Syndrome	Highly arched eyebrow, Long eyelashes, Thick eyebrow, Cryptorchidism, Low anterior hairline, Hirs...	OMIM:617126
Sirenomelia	Sirenomelia, Spina bifida	ORPHA:3169
Ovarian Fibroma	Abnormality of the ovary, Gonadal calcification, Ovarian fibroma, Odontogenic keratocysts of the ...	ORPHA:314473
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Flexion contracture, Sparse hair	OMIM:242300
Intellectual Developmental Disorder, Autosomal Dominant 72	Spina bifida	OMIM:620439
Alpha-Heavy Chain Disease	Hepatomegaly, Alopecia, Abnormal small intestine morphology, Lymphoma	ORPHA:100025
Anophthalmia Plus Syndrome	Spina bifida	ORPHA:1104
Leydig Cell Hypoplasia	Male hypogonadism, Hypoplasia of the Leydig cells, Breast aplasia, Abnormal external genitalia, I...	ORPHA:755
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Alopecia, Elevated circulating hepatic transaminase concentration, Failure to thrive, Cirrhosis, ...	OMIM:242150
Uv-Sensitive Syndrome 1	Neoplasm, Pigmentation anomalies of sun-exposed skin, Freckling	OMIM:600630
Isolated Hemihyperplasia	Myelomeningocele	ORPHA:2128
Pachydermoperiostosis	Neoplasm of the skin, Gastrointestinal hemorrhage, Peptic ulcer, Eczematoid dermatitis, Abnormal ...	ORPHA:2796
Maternal Uniparental Disomy Of Chromosome X	Azoospermia, Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for...	ORPHA:261519
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Alopecia of scalp, Hyperpigmentation of the skin, Erythroderma, Pruritus	OMIM:608649
Lactose Intolerance, Adult Type	Decreased small intestinal mucosa lactase level	OMIM:223100
48,Xyyy Syndrome	Male hypogonadism, Primary gonadal insufficiency, Azoospermia	ORPHA:99329
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Trichohepatoenteric Syndrome 1	Sparse hair, Bifid uvula, Hepatic fibrosis, Hepatic failure, Failure to thrive, Fine hair, Tricho...	OMIM:222470
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type	Bruxism, Gastroesophageal reflux, Hyperactivity, Hirsutism	OMIM:300434
Chronic Diarrhea Due To Glucoamylase Deficiency	Abnormal small intestinal mucosa morphology, Decreased small intestinal mucosa lactase level	ORPHA:103907
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Failure to thrive in infancy, Villous atrophy, Oligoarthritis, Erythroderma	OMIM:619510
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Decreased testicular size, Azoospermia, De...	ORPHA:280679
Endometriosis, Susceptibility To, 1	Endometriosis	OMIM:131200
Microcephaly, Growth Restriction, And Increased Sister Chromatid Exchange 2	Intrauterine growth retardation, Increased susceptibility to spontaneous sister chromatid exchange	OMIM:618097
Diarrhea 11, Malabsorptive, Congenital	Villous atrophy	OMIM:618662
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Hepatic fibrosis, Hepatic failure, Failure to thrive, Villous atrophy...	OMIM:602579
Porphyria Cutanea Tarda, Type I	Hepatic fibrosis, Eczematoid dermatitis, Hypertrichosis, Addictive alcohol use, Hyperpigmentation...	OMIM:176090
Kallmann Syndrome With Spastic Paraplegia	Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Cryptorchidism, Hypogo...	OMIM:308750
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
Amed Syndrome, Digenic	Hypoplasia of the uterus, Acute myeloid leukemia, Failure to thrive, Myelodysplasia	OMIM:619151
Bardet-Biedl Syndrome 11	Hypogonadism, Obesity	OMIM:615988
48,Xxyy Syndrome	Decreased testicular size, Azoospermia, Obesity, Type II diabetes mellitus, Cryptorchidism, Infer...	ORPHA:10
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Hypopigmented skin patches, Cutaneous melanoma, Congenital giant melanocyti...	ORPHA:626
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Aminopterin/Methotrexate Embryofetopathy	Spinal dysraphism, Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Ho...	ORPHA:1908
Hemochromatosis, Type 1	Azoospermia, Hypogonadotropic hypogonadism, Amenorrhea, Testicular atrophy, Impotence, Diabetes m...	OMIM:235200
Ring Chromosome 21 Syndrome	Amenorrhea, Azoospermia, Diabetes insipidus, Infertility	ORPHA:1445
Lamellar Ichthyosis	Sparse hair, Abnormality of the nail, Erythroderma, Aplasia/Hypoplasia of the eyebrow, Pruritus, ...	ORPHA:313
Camptodactyly Syndrome, Guadalajara Type 1	Intrauterine growth retardation, Spina bifida	ORPHA:1327
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Copper Deficiency, Familial Benign	Seborrheic dermatitis, Early balding, Failure to thrive, Curly hair	OMIM:121270
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Villous atrophy, Failure to thrive, Lipodystrophy	OMIM:608776
Mhc Class Ii Deficiency 1	Failure to thrive, Chronic mucocutaneous candidiasis, Villous atrophy, Biliary tract abnormality,...	OMIM:209920
Immunodeficiency 31C	Protein-losing enteropathy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Osteomyelit...	OMIM:614162
Complete Androgen Insensitivity Syndrome	Elevated circulating luteinizing hormone level, Sparse pubic hair, Abnormal morphology of female ...	ORPHA:99429
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit...	ORPHA:168563
Maturity-Onset Diabetes Of The Young, Type 11	Obesity, Overweight	OMIM:613375
Primary Intestinal Lymphangiectasia	Increased stool alpha1-antitrypsin concentration, Intestinal lymphangiectasia, Functional abnorma...	ORPHA:90362
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Failure to thrive, Eczematoid d...	OMIM:618131
Phenylketonuria	Eczematoid dermatitis, Fair hair, Self-mutilation, Aggressive behavior, Attention deficit hyperac...	OMIM:261600
Congenital Vertical Talus	Myelomeningocele	ORPHA:178382
X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome	Hypoplasia of penis, Aplasia/Hypoplasia of the testes, Cryptorchidism, Obesity	ORPHA:3055
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Müllerian Aplasia And Hyperandrogenism	High anterior hairline, Frontal balding, Abnormal vagina morphology, Abnormality of the ovary, Fa...	ORPHA:247768
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyebrow, Coarse hair, Sparse eyelashes, Patchy alopecia, Abnormal hair pattern, Scarring a...	ORPHA:35173
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Inappropriate laughter, Obesity, Polyphagia,...	ORPHA:411515
Familial Glucocorticoid Deficiency	Precocious puberty, Leydig cell neoplasia, Abnormal circulating adrenocorticotropin concentration...	ORPHA:361
Czeizel-Losonci Syndrome	Myelomeningocele, Spina bifida occulta, Spina bifida, Hydrocephalus	ORPHA:2437
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Subependymal Nodular Heterotopia	Myelomeningocele, Meningocele, Occipital encephalocele, Nasofrontal encephalocele	ORPHA:101030
Thoraco-Abdominal Enteric Duplication	Diastomatomyelia, Meningocele	ORPHA:1759
Monosomy 22	Contractures of the large joints, Meningioma, Gonadal neoplasm, Schwannoma, Hepatosplenomegaly, A...	ORPHA:96123
Osteootohepatoenteric Syndrome	Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Increased intestinal transit t...	OMIM:619377
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration ...	OMIM:615508
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	ORPHA:895
Familial Melanoma	Abnormal hair morphology, Neoplasm of the pancreas, Melanoma, Freckling, Neoplasm of the stomach,...	ORPHA:618
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abnormality of the liver, Mixed hypo- and hyperpigmentation of the s...	ORPHA:79456
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Failure to thrive,...	ORPHA:238468
Acrodysplasia Scoliosis	Spina bifida occulta	ORPHA:2956
Obesity And Hypopigmentation	Red hair, Obesity, Polyphagia, Hepatic steatosis	OMIM:620195
N Syndrome	Abnormality of chromosome stability	OMIM:310465
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hematochezia, Inflammation of the large intestine, Hepatic fibrosis, Elevated circulating hepatic...	OMIM:615895
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Carney Complex, Type 1	Palatine myxoma, Pituitary adenoma, Myxoid subcutaneous tumors, Schwannoma, Pheochromocytoma, Thy...	OMIM:160980
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Decreased fertil...	ORPHA:90793
Ichthyosis With Erythrokeratoderma	Leukonychia, Pruritus, Erythroderma, Nail pits	OMIM:620507
Epidermodysplasia Verruciformis	Verrucae, Hypopigmented skin patches, Pustule, Squamous cell carcinoma, Seborrheic dermatitis, Mu...	ORPHA:302
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Melanoma, Squamous cell carcinoma, H...	ORPHA:90342
Waardenburg Syndrome Type 1	Meningocele, Spina bifida	ORPHA:894
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma, Profuse pigmented skin lesions	ORPHA:280785
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Alopecia, Hematochezia, Xerostomia, Gastrointestinal carcinoma, Nail ...	OMIM:175500
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Azoospermia, Hypoplasia of the uterus, Bicornuate uterus	OMIM:601076
Iniencephaly	Spinal dysraphism, Myelomeningocele, Encephalocele, Syringomyelia, Spina bifida, Hydrocephalus, H...	ORPHA:63259
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Piebaldism	Neoplasm of the skin, Hypopigmented skin patches, White forelock, Heterochromia iridis, Aganglion...	ORPHA:2884
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability	OMIM:614082
Adiposis Dolorosa	Painful subcutaneous lipomas, Obesity	OMIM:103200
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Obesity, Hirsutism	OMIM:184700
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Polyphagia, Hypopigmentation of hair	ORPHA:177910
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Hepatitis, Eczematoid dermatitis, Chronic mucocutaneous can...	ORPHA:391487
Amish Lethal Microcephaly	Spina bifida	ORPHA:99742
46,Xy Sex Reversal 7	Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon...	OMIM:233420
Pearson Marrow-Pancreas Syndrome	Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Exoc...	OMIM:557000
Fountain Syndrome	Spina bifida occulta, Spina bifida	ORPHA:3219
Ataxia-Telangiectasia	Elevated circulating hepatic transaminase concentration, Failure to thrive, Premature graying of ...	ORPHA:100
Congenital Disorder Of Glycosylation, Type Ia	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Vil...	OMIM:212065
Fanconi Anemia, Complementation Group J	Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents	OMIM:609054
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Rudiger Syndrome	Micropenis, Bicornuate uterus, Ovarian cyst	OMIM:268650
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Alopecia, Hepatosplenomegaly, Erythroderma, Failure to thrive	ORPHA:169154
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Hypogonadism, Decreased testicular size, Abnormality of the ovary	ORPHA:1875
Fg Syndrome 3	Fine hair, Frontal upsweep of hair, Cryptorchidism, Hyperactivity, Joint contracture, Sparse hair...	OMIM:300406
Burkitt Lymphoma	Abnormality of the ovary, Abnormality of the liver, Neoplasm of the oral cavity	ORPHA:543
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hypogonadism, Azoospermia	OMIM:615234
46,Xy Sex Reversal 11	Elevated circulating luteinizing hormone level, Vanishing testis, Aplasia of the uterus, Elevated...	OMIM:273250
Cerebrocostomandibular Syndrome	Hydranencephaly, Myelomeningocele, Intrauterine growth retardation, Spina bifida, Meningocele	ORPHA:1393
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism	OMIM:300510
Wildervanck Syndrome	Meningocele	ORPHA:3456
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ...	ORPHA:1772
Humero-Radial Synostosis	Meningocele	ORPHA:3265
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Proprotein Convertase 1/3 Deficiency	Decreased circulating cortisol level, Obesity, Villous atrophy	OMIM:600955
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613265
Omenn Syndrome	Pneumonia, Alopecia, Failure to thrive, Hypoplasia of the thymus, Erythroderma, Hepatomegaly	OMIM:603554
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Sparse lateral eyebrow, Eczematoid dermatitis, Acne inversa, Trichorrhe...	OMIM:617337
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Spina bifida	ORPHA:1120
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Failure to thrive secondary to recurrent infections, H...	ORPHA:169160
Familial Adenomatous Polyposis 4	Thyroid adenoma, Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Astrocytoma, Breast in...	OMIM:617100
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc...	ORPHA:567983
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Failure to thrive	OMIM:246700
Alg9-Cdg	Bifid uvula, Periportal fibrosis, Gastroesophageal reflux, Hypertrichosis, Villous atrophy, Hepat...	ORPHA:79328
Premature Ovarian Failure 7	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Elevate...	OMIM:612964
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Small pituitary gland, Decreased serum estradiol, Aplasia/hypoplasia of the uterus, Absence of se...	ORPHA:2232
Microvillus Inclusion Disease	Pruritus, Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Elevated circulating luteinizing hormone level, Decreased response to growth hormone stimulation ...	OMIM:300845
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Hyperinsulinemic Hypoglycemia, Familial, 2	Large for gestational age, Nesidioblastosis	OMIM:601820
Meckel Syndrome, Type 2	Intrauterine growth retardation, Anencephaly, Encephalocele, Meningocele	OMIM:603194
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Hyperactivity, Blue irides, Red hair	OMIM:614613
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Hypohidrosis, Slow-growing hair, Pruri...	OMIM:618535
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Weight loss, Erythroderma	ORPHA:312
Immunodeficiency 82 With Systemic Inflammation	Pneumonia, Anoperineal fistula, Hepatitis, Pustular rash, Recurrent otitis media, Osteomyelitis, ...	OMIM:619381
48,Xxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Obesity, Type II diabetes me...	ORPHA:96263
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Abnormality of the nail, Cigarette-paper scars, Periodontitis, Hypopigmente...	ORPHA:678
Ciliary Dyskinesia, Primary, 34	Immotile sperm, Male infertility, Absent central microtubular pair morphology of respiratory moti...	OMIM:617091
Transcobalamin Deficiency	Abnormality of chromosome stability	ORPHA:859
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Gastroesophageal reflux, Failure to thrive, Decreased liver function, Hepatic steatosis, Hypopigm...	ORPHA:70472
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Fragile X Syndrome	Folate-dependent fragile site at Xq28, Periventricular heterotopia	OMIM:300624
Cortisone Reductase Deficiency 1	Precocious puberty, Alopecia, Obesity, Hirsutism	OMIM:604931
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Meckel Syndrome, Type 4	Intrauterine growth retardation, Encephalocele, Hydrocephalus, Meningocele, Anencephaly	OMIM:611134
Trichothiodystrophy	Cryptorchidism, Brittle hair, Split nail, High, narrow palate, Eczematoid dermatitis, Ridged nail...	ORPHA:33364
Breast-Ovarian Cancer, Familial, Susceptibility To, 1	Ovarian neoplasm, Breast carcinoma	OMIM:604370
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Pachyonychia Congenita 2	Sparse eyebrow, Dry hair, Folliculitis, Oral leukoplakia, Subungual hyperkeratosis, Steatocystoma...	OMIM:167210
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Keloids, Eczematoid dermatitis, Sparse body hair, Congenital onyc...	ORPHA:2890
46,Xy Sex Reversal 3	Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Gonadal dysgenesis, Ambiguo...	OMIM:612965
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome	Hypogonadism, Obesity, Low posterior hairline, Abnormal hair quantity, Abnormal testis morphology	ORPHA:2233
Diaphanospondylodysostosis	Myelomeningocele	ORPHA:66637
Mismatch Repair Cancer Syndrome 3	Lymphoma, Astrocytoma, Lisch nodules, Neoplasm of the rectum, Multiple cafe-au-lait spots, Axilla...	OMIM:619097
Familial Supernumerary Nipples	Supernumerary nipple	ORPHA:2456
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
Immunodeficiency 54	Chromosome breakage, Intrauterine growth retardation	OMIM:609981
Pelvis-Shoulder Dysplasia	Hydrocephalus, Hydranencephaly, Spina bifida	ORPHA:2839
Intermediate Generalized Junctional Epidermolysis Bullosa	Sparse body hair, Nail dystrophy, Scarring alopecia of scalp, Abnormality of skin pigmentation, G...	ORPHA:79402
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, Hypopigmentation of the skin, T-cell lymphoma, Leukemia, Lymphoma, O...	OMIM:276300
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Basal cell carcinoma, Hypopigmentation of the skin, Squamous cell carcinom...	ORPHA:79434
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating hepatic transaminase concentration, Obesity, Palmoplantar pustulo...	ORPHA:247353
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
X-Linked Agammaglobulinemia	Cellulitis, Alopecia, Recurrent pneumonia, Failure to thrive, Hepatitis, Hypopigmented skin patch...	ORPHA:47
Functioning Gonadotropic Adenoma	Ovarian cyst, Oligozoospermia, Decreased response to growth hormone stimulation test, Decreased f...	ORPHA:91348
Satoyoshi Syndrome	Alopecia universalis, Abnormality of the uterus, Abnormality of the ovary, Abnormal hair morpholo...	ORPHA:3130
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary...	OMIM:614841
Chondrodysplasia Punctata 2, X-Linked Dominant	Sparse eyebrow, Failure to thrive, Sparse eyelashes, Patchy alopecia, Erythroderma, Sparse hair	OMIM:302960
Isolated Posterior Meningocele	Hydromyelia, Hydrocephalus, Lipomyelomeningocele, Meningocele, Occipital meningocele, Tethered co...	ORPHA:268810
Werner Syndrome	Premature graying of hair, Neoplasm of the oral cavity, Slender build, White forelock, Melanoma, ...	ORPHA:902
Perrault Syndrome 4	Obesity, Hypoplasia of the ovary, Increased circulating gonadotropin level, Hypoplasia of the ute...	OMIM:615300
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Sacral Defect With Anterior Meningocele	Hydromyelia, Tethered cord, Myelomeningocele, Myeloschisis, Hydrocephalus, Meningocele, Dermal si...	OMIM:600145
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:277580
Neu-Laxova Syndrome 2	Intrauterine growth retardation, Spina bifida	OMIM:616038
Classic Phenylketonuria	Self-injurious behavior, Hypopigmentation of the skin, Eczematoid dermatitis, Attention deficit h...	ORPHA:79254
Fanconi Anemia, Complementation Group O	Chromosome breakage, Neonatal death	OMIM:613390
Omphalocele-Cleft Palate Syndrome, Lethal	Bicornuate uterus	OMIM:258320
Fanconi Anemia, Complementation Group D1	Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents	OMIM:605724
Bardet-Biedl Syndrome 4	Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism	OMIM:615982
Pemphigus Foliaceus	Neoplasm of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Hematol...	ORPHA:79481
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit...	OMIM:609734
Lumbar Syndrome	Myelomeningocele, Spina bifida	ORPHA:83628
Estrogen Resistance	Breast aplasia, Hypoplasia of the uterus, Polycystic ovaries	OMIM:615363
Piebald Trait	Partial albinism, Neoplasm, White forelock, Absent pigmentation of the ventral chest, Heterochrom...	OMIM:172800
Ring Chromosome 12 Syndrome	High, narrow palate, Dystrophic toenail, Breast hypoplasia, Cryptorchidism, Hirsutism, Hemangioma...	ORPHA:1439
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Abnormal eating behavior, Inappropr...	ORPHA:411511
Graves Disease	Graves disease, Goiter, Increased circulating free T3, Polyphagia, Onycholysis, Weight loss, Incr...	OMIM:275000
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Neoplasm of the skin, Generalized hypopigmentation of hair, Actinic kerato...	ORPHA:352731
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Neoplasm of the skin, Hypopigmentation of the skin, White hair, Ocular alb...	ORPHA:79435
Diabetic Embryopathy	Spinal dysraphism, Hydrocephalus	ORPHA:1926
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma, Failure to thrive	OMIM:227090
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv...	ORPHA:540
Biotinidase Deficiency	Alopecia, Skin rash, Seborrheic dermatitis, Hepatomegaly, Conjunctivitis, Recurrent skin infections	OMIM:253260
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Hepatic failure, Small for gestational age, Cholestasis, Elevated circulating...	OMIM:619573
49,Xxxxy Syndrome	Small scrotum, Hypogonadism, Decreased testicular size, Azoospermia, Type II diabetes mellitus, C...	ORPHA:96264
Microphthalmia, Syndromic 12	Bicornuate uterus, Cryptorchidism	OMIM:615524
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Hypogonadism, Adrenal insufficiency, Azoospermia, Hypothyroidism, Abnormality of the hypothalamus...	ORPHA:300298
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Cutaneous melanoma, Squamous cel...	ORPHA:79432
Aromatase Deficiency	Female infertility, Ambiguous genitalia, female, Obesity, Female pseudohermaphroditism, Cryptorch...	ORPHA:91
Estrogen Resistance Syndrome	Tall stature, Breast hypoplasia, Enlarged polycystic ovaries, Overgrowth, Increased circulating g...	ORPHA:785
Fanconi Anemia, Complementation Group B	Hydrocephalus, Intrauterine growth retardation, Abnormality of chromosome stability, Patent ductu...	OMIM:300514
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi	Spinal dysraphism, Tethered cord	OMIM:612918
Cronkhite-Canada Syndrome	Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Generalized hyperpigm...	ORPHA:2930
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Infl...	ORPHA:3260
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Spinal dysraphism, Tethered cord	OMIM:617660
Systemic Sclerosis	Intestinal bleeding, Glomerulonephritis, Recurrent skin infections, Dysphagia, Alopecia, Gastroes...	ORPHA:90291
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Obesity, Micropenis	OMIM:614962
46,Xx Ovotesticular Difference Of Sex Development	Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno...	ORPHA:2138
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Oral leukoplakia, Failure to thrive, Premature graying of h...	ORPHA:3322
Chromosome 2Q37 Deletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Eczematoid dermatitis, Obesity, Stereotypical han...	OMIM:600430
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma, Failure to thrive	ORPHA:1954
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Vacterl With Hydrocephalus	Hydrocephalus, Aqueductal stenosis, Intrauterine growth retardation, Spina bifida	ORPHA:3412
Neurofibromatosis, Familial Spinal	Neurofibroma, Symmetric spinal nerve root neurofibromas, Plexiform neurofibroma, Lisch nodules, F...	OMIM:162210
Tetragametic Chimerism	Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt...	ORPHA:199310
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Obesity, Abnormal eating behavior, Inappropr...	ORPHA:98794
2Q23.1 Microdeletion Syndrome	Self-injurious behavior, Highly arched eyebrow, Cryptorchidism, Generalized hirsutism, Polyphagia...	ORPHA:228402
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	High, narrow palate, Failure to thrive, Eczematoid dermatitis, Obesity, Thick eyebrow, Abnormalit...	ORPHA:369950
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Basal cell carcinoma, Hypopigmentation of the skin, Ocular albinism, Squam...	ORPHA:79431
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Posterior blepharitis, Psoriasiform dermatitis, Sparse eyela...	ORPHA:477
Fanconi Anemia, Complementation Group U	Chromosome breakage, Patent ductus arteriosus	OMIM:617247
Vascular Hyalinosis	Protein-losing enteropathy, Chorioretinal scar, Hematochezia, Premature graying of hair	OMIM:277175
Perrault Syndrome 3	Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu...	OMIM:614129
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Immotile sperm, Male infertility	OMIM:614874
Chromosome 17P13.1 Deletion Syndrome	Hydrocephalus, Spina bifida, Umbilical hernia	OMIM:613776
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Omodysplasia 2	Uterus didelphys, Cryptorchidism, Labial hypoplasia, Micropenis, Glabellar hemangioma, Hypospadia...	OMIM:164745
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Seborrheic dermatitis, Failure to thrive	OMIM:210210
Phakomatosis Pigmentokeratotica	Spina bifida	ORPHA:2874
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Large for gestational age, Cryptorchidism, Hemangioma, Hyperactivity,...	ORPHA:457485
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Abnormal uterine cervix morphology, Hydrocolpos, Partial vaginal septum, Uterus didelphys	ORPHA:3411
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Small scrotum, Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Eunuchoid habi...	ORPHA:2234
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis, Absence of subcutaneous fat, Reduc...	ORPHA:90156
Waardenburg Syndrome, Type 1	Myelomeningocele, Spina bifida	OMIM:193500
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Hepatic Veno-Occlusive Disease	Increased body weight, Hepatomegaly, Jaundice, Elevated circulating hepatic transaminase concentr...	ORPHA:890
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Psoriasiform dermatitis, Abnormal intestine morphology, Cru...	ORPHA:37042
Cloacal Exstrophy	Myelomeningocele, Spina bifida	ORPHA:93929
Mullerian Aplasia And Hyperandrogenism	Aplasia of the fallopian tube, Aplasia of the vagina, Hirsutism, Aplasia of the uterus, Abnormal ...	OMIM:158330
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Fanconi Anemia, Complementation Group T	Chromosomal breakage induced by crosslinking agents	OMIM:616435
Trisomy 20P	Spina bifida, Umbilical hernia	ORPHA:261318
Self-Improving Dystrophic Epidermolysis Bullosa	Nail dystrophy, Abnormality of skin pigmentation	ORPHA:79411
Lactase Deficiency, Congenital	Decreased small intestinal mucosa lactase level	OMIM:223000
Transketolase Deficiency	Self-injurious behavior, Compulsive behaviors, Attention deficit hyperactivity disorder, Seborrhe...	ORPHA:488618
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Sparse lateral eyebrow, Abnormal female external genitalia morphology, Aplasia of t...	OMIM:277000
Enlarged Parietal Foramina	Myelomeningocele, Occipital encephalocele	ORPHA:60015
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Ovarian Dysgenesis 7	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:618117
Ovarian Dysgenesis 6	Hypoplasia of the uterus, Hypergonadotropic hypogonadism	OMIM:618078
Denys-Drash Syndrome	Ovarian gonadoblastoma, Uterus didelphys, Gonadal dysgenesis, Ambiguous genitalia, female, Septat...	OMIM:194080
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Increased body weight, Cryptorchidism, Synophrys	ORPHA:589905
Limb Body Wall Complex	Myelomeningocele, Encephalocele, Short umbilical cord, Spina bifida, Hydrocephalus, Abnormal spin...	ORPHA:2369
Hatipoglu Immunodeficiency Syndrome	Hyperpigmented/hypopigmented macules, Atopic dermatitis, Fair hair, Failure to thrive, Premature ...	OMIM:620331
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Obesity, Reduced circulating prolactin concentration	OMIM:264120
8P11.2 Deletion Syndrome	Hypogonadism, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of penis, Ab...	ORPHA:251066
Donnai-Barrow Syndrome	Bicornuate uterus, Widow's peak, Abnormality of the uterus	ORPHA:2143
Cowden Syndrome	Neoplasm of the skin, Follicular thyroid carcinoma, Melanoma, Adenoma sebaceum, Colorectal polypo...	ORPHA:201
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary	OMIM:617565
Fanconi Anemia, Complementation Group S	Chromosome breakage	OMIM:617883
Icf Syndrome	Communicating hydrocephalus, Abnormality of chromosome stability, Umbilical hernia	ORPHA:2268
Premature Ovarian Failure 6	Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ...	OMIM:612310
Dyskeratosis Congenita	Periodontitis, Hypopigmented skin patches, White hair, Premature graying of hair, Cirrhosis, Hepa...	ORPHA:1775
Low Phospholipid-Associated Cholelithiasis	Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Elevated circulating hepatic transam...	ORPHA:69663
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619665
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Immotile sperm, Absent inner dynein a...	OMIM:613807
Mucopolysaccharidosis, Type Iiic	Coarse hair, Hypertrichosis, Hirsutism, Hernia, Hyperactivity, Hepatomegaly, Dysphagia, Synophrys	OMIM:252930
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Cholelithiasis, Coarse hair, Failure to thrive, Pancreatic hypoplasia, Eczematoid dermatitis, Con...	ORPHA:83617
Ovarian Dysgenesis 5	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:617690
Trisomy 18	Intrauterine growth retardation, Holoprosencephaly, Anencephaly, Spina bifida	ORPHA:3380
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility	ORPHA:2239
Ring Chromosome 22 Syndrome	Azoospermia	ORPHA:1446
Mosaic Trisomy 9	Intrauterine growth retardation, Spina bifida	ORPHA:99776
Congenital Disorder Of Glycosylation, Type If	Flexion contracture, Erythroderma, Failure to thrive	OMIM:609180
Classic Galactosemia	Cryptorchidism, Decreased fertility in females, Oligomenorrhea, Decreased serum insulin-like grow...	ORPHA:79239
Griscelli Syndrome Type 2	Iris hypopigmentation, Premature graying of hair, Partial albinism, Hepatomegaly, Jaundice, Hypop...	ORPHA:79477
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm...	OMIM:619203
Harlequin Ichthyosis	Self-injurious behavior, Erythroderma	ORPHA:457
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Cryptorchidism, Absent eyelashes, Absent eyebrow, Erythroderma, Recurrent skin infections, Alopec...	OMIM:308205
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Failure to thrive, Decreased liver function, Cholestasis, Decreased c...	OMIM:608104
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Symptomatic Form Of Hfe-Related Hemochromatosis	Decreased serum testosterone concentration, Decreased libido, Hypogonadotropic hypogonadism, Amen...	ORPHA:465508
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Protruding tongue, Tongue thrusting, Hypopig...	ORPHA:98795
Darier Disease	Abnormal hair morphology, Hypermelanotic macule, Anal mucosal leukoplakia, Abnormality of skin pi...	ORPHA:218
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Adult Syndrome	Absent nipple, Fair hair, Eczematoid dermatitis, Breast hypoplasia, Alopecia of scalp, Sparse axi...	OMIM:103285
Caudal Duplication Anomaly	Uterus didelphys	OMIM:607864
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Irregular hyperpigmentation, Neoplasm of the colon, Abnormality of t...	ORPHA:44890
Intellectual Developmental Disorder, Fra12A Type	Erythroderma	OMIM:136630
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Meningocele	ORPHA:2003
Bloom Syndrome	Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Sparse eyelashes, Acute myeloid leuk...	ORPHA:125
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Ocular albinism...	ORPHA:79430
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Pagod Syndrome	Meningocele, Encephalocele, Spina bifida	ORPHA:991
Bone Marrow Failure Syndrome 3	Failure to thrive, Eczematoid dermatitis, Small nail, Exocrine pancreatic insufficiency, Nail dys...	OMIM:617052
Idiopathic Localized Lipodystrophy	Inflammatory abnormality of the skin, Hypopigmentation of the skin, Absence of subcutaneous fat, ...	ORPHA:90158
Nail-Patella Syndrome	Spina bifida	OMIM:161200
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Eczematoid dermatitis, Seborrheic dermatitis, Hyperhidrosis, Arthritis, High palate, Patent ductu...	OMIM:259100
Hermansky-Pudlak Syndrome 1	Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,...	OMIM:203300
Ichthyosis, Congenital, Autosomal Recessive 9	Hypohidrosis, Erythroderma	OMIM:615023
Squalene Synthase Deficiency	Bilateral cryptorchidism, Elbow flexion contracture, Failure to thrive in infancy, Knee flexion c...	OMIM:618156
Neu-Laxova Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2671
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Satoyoshi Syndrome	Alopecia, Alopecia universalis, Hypoplasia of the uterus	OMIM:600705
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Obesity, Cryptorchidism, Hypogonadotropic hypogonadism, Micropenis	OMIM:610628
22Q11.2 Deletion Syndrome	Hypopigmented skin patches, Cryptorchidism, Hypoparathyroidism, Anal atresia, Patent ductus arter...	ORPHA:567
Premature Ovarian Failure 13	Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level	OMIM:617442
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Tatton-Brown-Rahman Syndrome	Neuroendocrine neoplasm, Obesity, Thick eyebrow, Cryptorchidism, Myeloid leukemia, Proportionate ...	ORPHA:404443
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Hypogonadism, External genital hypoplasia, Obesity, Cryptorchidism	ORPHA:363741
Mucopolysaccharidosis, Type Iiib	Coarse hair, Hirsutism, Aggressive behavior, Hyperactivity, Hepatomegaly, Synophrys	OMIM:252920
Stolerman Neurodevelopmental Syndrome	Bifid uvula, Cryptorchidism, Hypoplastic nipples, Hemangioma, Hyperactivity, Hypermelanotic macul...	OMIM:618505
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Alopecia, Decreased testicular size, Intrauterine growth retardation, Squam...	OMIM:620040
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnorm...	OMIM:175200
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Cowden Syndrome 1	Varicocele, Thyroid adenoma, Subcutaneous lipoma, Goiter, Meningioma, Fibroadenoma of the breast,...	OMIM:158350
Premature Ovarian Failure 3	Hypoplasia of the uterus	OMIM:608996
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Fibular Hemimelia	Spina bifida	ORPHA:93323
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Increased body weight, Low posterior hairline, Mi...	OMIM:300860
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
H Syndrome	Hypogonadism, Decreased testicular size, Azoospermia, Amenorrhea, Delayed puberty, Micropenis, Di...	ORPHA:168569
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Multinodular goiter, Squamous ...	OMIM:618373
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Loose anagen hair, Failure to thrive, Eczematoid dermatitis, Multiple lentigines, Long eyelashes,...	OMIM:607721
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Bloom Syndrome	Azoospermia, Type II diabetes mellitus, Cryptorchidism, Decreased fertility in females, Small for...	OMIM:210900
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Elevated circulating luteinizing hormone level, Sparse pubic hair, Failure to thrive, Sparse body...	ORPHA:90796
Insulinoma	Neuroendocrine neoplasm, Pituitary prolactin cell adenoma, Zollinger-Ellison syndrome, Increased ...	ORPHA:97279
Oculoskeletodental Syndrome	Protein-losing enteropathy, Elbow flexion contracture, Cryptorchidism, Low anterior hairline, Low...	OMIM:618440
Mucopolysaccharidosis, Type Iiia	Coarse hair, Umbilical hernia, Inguinal hernia, Hirsutism, Hyperactivity, Hepatomegaly, Synophrys	OMIM:252900
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Hirsutism, Polycystic ovaries	ORPHA:2795
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Anteriorly displaced urethral meatus, Hydrocele testis	OMIM:266810
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Sparse eyebrow, Aplasia/Hypoplasia of the nipples, Supernumerary nipple, Abnormal reproductive sy...	ORPHA:1521
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Short stature, Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:251270
Magel2-Related Prader-Willi-Like Syndrome	Small pituitary gland, Abnormal temper tantrums, Gastroesophageal reflux, Central hypothyroidism,...	ORPHA:398069
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:98793
Ulnar Hemimelia	Spinal dysraphism	ORPHA:93320
Insensitivity To Pain, Congenital, With Anhidrosis	Keratitis, Osteomyelitis, Corneal scarring, Nail dystrophy, Self-mutilation, Nail dysplasia, Hype...	OMIM:256800
Testicular Agenesis	Absent external genitalia, Hypoplasia of the uterus, Vanishing testis, Ambiguous genitalia, Uroge...	ORPHA:325124
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Abnormal temper tantrums, Hypopigmentation of the skin, Central hypothyroi...	ORPHA:398079
Neurocutaneous Melanocytosis	Syringomyelia, Meningocele	ORPHA:2481
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2	Spinal dysraphism	OMIM:603546
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:177904
Gillessen-Kaesbach-Nishimura Syndrome	Periportal fibrosis, Bicornuate uterus, Frontotemporal hypertrichosis	OMIM:263210
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va...	ORPHA:65681
Ichthyosis, Congenital, Autosomal Recessive 6	Hypohidrosis, Erythroderma	OMIM:612281
X-Linked Intellectual Disability, Cabezas Type	Camptodactyly of finger, Decreased testicular size, Obesity, Inguinal hernia, Aggressive behavior...	ORPHA:85293
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:177901
Basal Cell Nevus Syndrome 1	Hydrocephalus, Spina bifida	OMIM:109400
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Self-injurious behavior, Abnormal temper tantrums, Iris hypopigmentation, Hypopigmentation of the...	ORPHA:98754
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, I...	ORPHA:163746
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Abnormal dental enamel morphology, Cryptorchidism, Overfriend...	ORPHA:96169
Hypomelia With Mullerian Duct Anomalies	Uterus didelphys, Longitudinal vaginal septum	OMIM:146160
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Hypoplasia of penis, Uterus didelphys	ORPHA:2491
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Anal atresia, Erythroderma, Hepatic cysts	OMIM:617425
Focal Dermal Hypoplasia	Spina bifida, Umbilical hernia	ORPHA:2092
Bardet-Biedl Syndrome 1	Hepatic fibrosis, Abnormality of the ovary, Decreased testicular size, Hypogonadism, Obesity, Hir...	OMIM:209900
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:614441
Whim Syndrome	Cellulitis, Pneumonia, Recurrent pneumonia, Verrucae, Lymphadenitis, Cutaneous melanoma, Parotiti...	ORPHA:51636
Glucagonoma	Increased circulating cortisol level, Increased circulating prolactin concentration, Intestinal o...	ORPHA:97280
Triploidy	Intrauterine growth retardation, Holoprosencephaly, Hydrocephalus, Meningocele	ORPHA:3376
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypospadias, Failure to thrive, Hypertrichosis, Splenopancreatic fusion, Teratoma,...	OMIM:269150
Fanconi Anemia, Complementation Group R	Chromosomal breakage induced by crosslinking agents, Hydrocephalus	OMIM:617244
Hallermann-Streiff Syndrome	Spina bifida	OMIM:234100
Insulin-Resistance Syndrome Type B	Alopecia, Biliary cirrhosis, Lymphoma, Abnormality of body weight, Decreased body weight, Enlarge...	ORPHA:2298
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Cryptorchidism, Oligozoospermia	OMIM:314300
Prader-Willi Syndrome	Small pituitary gland, Hypopigmentation of the skin, Xerostomia, Central hypothyroidism, Failure ...	ORPHA:739
Fanconi Anemia, Complementation Group E	Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia, Small for gestational age, Hypergonad...	OMIM:600901
Xeroderma Pigmentosum, Complementation Group E	Defective DNA repair after ultraviolet radiation damage	OMIM:278740
Pituitary Dermoid And Epidermoid Cysts	Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Amenorrhea, Hype...	ORPHA:91351
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Hypogonadism, Obesity, Cryptorchidism	OMIM:601794
Fanconi Anemia, Complementation Group I	Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents	OMIM:609053
Aarskog-Scott Syndrome	Elevated circulating luteinizing hormone level, Failure to thrive, Bilateral cryptorchidism, Decr...	OMIM:305400
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis, Failure to thrive	OMIM:619693
Muenke Syndrome	High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Neurofibromatosis, Type I	Hydrocephalus, Aqueductal stenosis, Spina bifida	OMIM:162200
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hepatomegaly, Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Secondary growth hormone deficiency, Breast hypoplasia, Obesity, Hypogonadotropic hypogonadism, H...	ORPHA:2235
Candidiasis, Familial, 8	Seborrheic dermatitis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
Fanconi Anemia, Complementation Group F	Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents, Patent duct...	OMIM:603467
Digeorge Syndrome	Recurrent otitis media, Hepatic steatosis, Ovarian cyst, High palate, Patent ductus arteriosus, H...	OMIM:188400
Macrocephaly/Autism Syndrome	Coarse hair, Obesity, Penile freckling, Large for gestational age, Overgrowth, Hepatomegaly, Hydr...	OMIM:605309
Dyskeratosis Congenita, Autosomal Recessive 3	Squamous cell carcinoma of the tongue, Nail dystrophy, Abnormality of skin pigmentation	OMIM:613988
Fanconi Anemia, Complementation Group A	Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia, Small for gestational age, Hypergonad...	OMIM:227650
Erythroderma Desquamativum	Seborrheic dermatitis, Failure to thrive	ORPHA:314
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Mpi-Cdg	Hepatic fibrosis, Protein-losing enteropathy, Gastrointestinal hemorrhage, Failure to thrive, Dec...	ORPHA:79319
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu...	ORPHA:264580
Coffin-Siris Syndrome	Prominent eyelashes, Small nail, Hypertrichosis, Aspiration pneumonia, Hypoplastic fifth fingerna...	ORPHA:1465
Eosinophilic Gastroenteritis	Allergic rhinitis, Protein-losing enteropathy, Hematochezia, Atopic dermatitis, Abnormality of th...	ORPHA:2070
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Sparse eyebrow, Cryptorchidism, Sparse eyelashes, Abnormality of skin pigmentation, Short stature...	ORPHA:75496
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Hydrocele testis, Synophrys	OMIM:618154
Fanconi Anemia, Complementation Group L	Chromosome breakage, Intrauterine growth retardation, Chromosomal breakage induced by crosslinkin...	OMIM:614083
Hemihyperplasia-Multiple Lipomatosis Syndrome	Nephroblastoma, Multiple lipomas, Seborrheic dermatitis, Ovarian serous cystadenoma, Hydrocele te...	ORPHA:276280
Lig4 Syndrome	Abnormality of chromosome stability	ORPHA:99812
Luscan-Lumish Syndrome	High anterior hairline, Obesity, Hirsutism, Polycystic ovaries, Overgrowth	OMIM:616831
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Small nail, Elbow flexion contracture, Large for gestational age, Knee flexion contracture, Hip c...	OMIM:300868
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Sparse hair, Abnormality of skin pigmentation, Sparse body hair	ORPHA:1810
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Bifid uvula, Abnormal temper tantrums, Stellate iris, Head-banging, Hypopi...	ORPHA:177907
Legius Syndrome	Inguinal freckling, Axillary freckling, Acute monocytic leukemia, Vestibular schwannoma, Nephrobl...	ORPHA:137605
Ciliary Dyskinesia, Primary, 19	Male infertility, Absent inner and outer dynein arms	OMIM:614935
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Anoperineal fistula, Failure to thrive, Cha...	ORPHA:158668
Renal Hypodysplasia/Aplasia 3	Abnormality of the uterus	OMIM:617805
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Large for gestational age, Multiple pancreatic beta-cell adenomas, Elevated circulating growth ho...	ORPHA:79644
Autosomal Recessive Spondylocostal Dysostosis	Spina bifida occulta, Intrauterine growth retardation, Meningocele, Umbilical hernia	ORPHA:2311
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Hypopigmented skin patches, Hyperpigmentation of the ...	ORPHA:3214
X-Linked Intellectual Disability, Shashi Type	Macroorchidism, Obesity	ORPHA:85286
Limb-Mammary Syndrome	Alopecia, Sparse eyebrow, Absent nipple, Breast aplasia, Aplasia of the ovary, Aplasia of the ute...	ORPHA:69085
Dyskeratosis Congenita, Autosomal Recessive 2	Testicular atrophy	OMIM:613987
Fliedner-Zweier Syndrome	Meningocele, Tethered cord	OMIM:620511
Adrenocortical Carcinoma	Hypertrichosis, Lung adenocarcinoma, Increased body weight, Adrenocortical carcinoma, Adrenocorti...	ORPHA:1501
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Failure to thrive, Intes...	OMIM:615237
Bardet-Biedl Syndrome 6	Vaginal atresia, External genital hypoplasia, Hypospadias, Obesity	OMIM:605231
Congenital Myopathy 9A	Obesity, Cryptorchidism	OMIM:618822
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Polycystic ovaries, In...	ORPHA:79240
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Alopecia, Pituitary adenoma, Neuroendocrine neoplasm, Meningioma, Macronodular adrenal hyperplasi...	ORPHA:189427
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Dyskeratosis Congenita, Autosomal Recessive 8	Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents	OMIM:620133
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Vater/Vacterl Association	Occipital encephalocele, Intrauterine growth retardation, Spina bifida, Patent urachus, Tethered ...	OMIM:192350
Tuberous Sclerosis Complex	Cardiac rhabdomyoma, Hypomelanotic macule, Renal angiomyolipoma, Parathyroid adenoma, Angiofibrom...	ORPHA:805
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Widow's peak, Shawl scrotum, Bicornuate uterus, Hydrocele testis	OMIM:145420
Neu-Laxova Syndrome 1	Hydranencephaly, Small placenta, Intrauterine growth retardation, Short umbilical cord, Neonatal ...	OMIM:256520
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Tethered cord, Spina bifida	OMIM:619480
Brittle Cornea Syndrome 1	Red hair, Atypical scarring of skin, Dentinogenesis imperfecta	OMIM:229200
Joubert Syndrome 14	Hydrocephalus, Meningocele, Encephalocele	OMIM:614424
Distal Deletion 12Q	High, narrow palate, Microglossia, Annular pancreas, Pituitary adenoma, Fine hair, Small nail, El...	ORPHA:96149
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia	Sparse eyebrow, Sparse scalp hair, Abnormality of skin pigmentation	OMIM:225050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Spina bifida	ORPHA:508498
Wilson Disease	Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa...	ORPHA:905
Xeroderma Pigmentosum, Complementation Group C	Defective DNA repair after ultraviolet radiation damage	OMIM:278720
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Meningocele	ORPHA:2031
Hypothyroidism, Congenital, Nongoitrous, 6	Increased body weight, Increased body mass index	OMIM:614450
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Increased body weight, Small for gestational age, Goiter	OMIM:274300
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Hypogonadotropic hypogonadism, Hypoplasia of the uterus	OMIM:614842
Jacobsen Syndrome	Intrauterine growth retardation, Spina bifida	ORPHA:2308
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Intrauterine growth retardation, Nail dystrophy, Abnormality of skin pigmentation, Spar...	OMIM:616353
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne, Hyperhidrosis	OMIM:167100
Wagro Syndrome	Hypoplastic female external genitalia, Decreased testicular size, Obesity, Nephroblastoma, Multip...	OMIM:612469
Neonatal Inflammatory Skin And Bowel Disease	Horizontal eyebrow, Chapped lip, Anal fissure, Chronic monilial nail infection, Perianal dermatit...	ORPHA:294023
Aicardi Syndrome	Spina bifida	OMIM:304050
Fanconi Anemia, Complementation Group C	Cryptorchidism, Prolonged G2 phase of cell cycle, Leukemia, Small for gestational age, Hypergonad...	OMIM:227645
Fanconi Anemia	Abnormality of the hypothalamus-pituitary axis, Abnormality of the uterus, Hypogonadism, Azoosper...	ORPHA:84
Graft Versus Host Disease	Pneumonia, Elevated circulating hepatic transaminase concentration, Inflammatory abnormality of t...	ORPHA:39812
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Prune Belly Syndrome	Failure to thrive, Abnormality of the uterus, Decreased testicular size, Cryptorchidism, Urogenit...	ORPHA:2970
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Ocular albi...	OMIM:214500
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Protein-losing enteropathy, Joint contracture of the hand, Erysipelas, Intestinal lymphangiectasi...	OMIM:235510
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Elevated circulating hepatic transaminase concentration, Absent vas deferens, Aplasia/Hypoplasia ...	ORPHA:93111
Dyrk1A-Related Intellectual Disability Syndrome	Gastroesophageal reflux, Small for gestational age, Failure to thrive, Duodenal atresia, Eczemato...	ORPHA:464306
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Skin rash, Weight loss, Keratoconjunct...	OMIM:617321
Cartilage-Hair Hypoplasia	Spinal dysraphism, Abnormality of chromosome stability	ORPHA:175
Thrombocytopenia-Absent Radius Syndrome	Syringomyelia, Spina bifida	OMIM:274000
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Failure to thrive, Sparse eyelashes	OMIM:610768
Koolen-De Vries Syndrome Due To A Point Mutation	Hydrocephalus, Dural ectasia, Spina bifida	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hydrocephalus, Dural ectasia, Spina bifida	ORPHA:363958
Monosomy 9Q22.3	Tall stature, Large for gestational age, Medulloblastoma, Nephroblastoma, Cardiac fibroma, Ovaria...	ORPHA:77301
Campomelic Dysplasia	Hydrocephalus, Spinal dysraphism, Spina bifida	OMIM:114290
Hereditary Amyloidosis With Primary Renal Involvement	Hypogonadism, Weight loss, Oligozoospermia, Abnormal testis morphology, Primary testicular failur...	ORPHA:85450
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Fanconi Anemia, Complementation Group D2	Hydrocephalus, Deficient excision of UV-induced pyrimidine dimers in DNA, Chromosomal breakage in...	OMIM:227646
Histiocytosis-Lymphadenopathy Plus Syndrome	Type I diabetes mellitus, Pancreatic hypoplasia, Decreased response to growth hormone stimulation...	OMIM:602782
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Highly arched eyebrow, Hypertrichosis, Decreased response to growth hormone stimulation test, Lon...	OMIM:615866
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Inguina...	OMIM:235255
Wolfram Syndrome 1	Testicular atrophy, Hypothyroidism, Diabetes mellitus, Diabetes insipidus	OMIM:222300
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Micronodular cirrhosis, Aspiration pneumonia, Seborrheic dermatitis, Truncal obe...	OMIM:301072
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Hydrocephalus, Holoprosencephaly, Spinal cor...	ORPHA:2162
Lateral Meningocele Syndrome	Dural ectasia, Umbilical hernia, Syringomyelia, Hydrocephalus, Meningocele, Tethered cord	OMIM:130720
Obesity Due To Congenital Leptin Deficiency	Decreased testicular size, Obesity, Hypoplasia of the ovary, Pituitary hypothyroidism, Hypergonad...	ORPHA:66628
Acromelic Frontonasal Dysplasia	Meningocele, Encephalocele	ORPHA:1827
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Lacrimal gland hypoplasia, Premature graying of hair, White forelock,...	OMIM:613266
Juvenile Polyposis Of Infancy	High, narrow palate, Protein-losing enteropathy, Intestinal bleeding, Gastrointestinal hemorrhage...	ORPHA:79076
Lateral Meningocele Syndrome	Syringomyelia, Meningocele, Dural ectasia, Umbilical hernia	ORPHA:2789
Myoectodermal Gonadal Dysgenesis Syndrome	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Sparse pubic hair, Sparse ...	OMIM:618419
Pigmented Nodular Adrenocortical Disease, Primary, 4	Increased body weight, Alopecia, Adrenal hyperplasia, Hirsutism	OMIM:615830
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Increased body weight	ORPHA:276608
Renal Hypodysplasia/Aplasia 1	Vaginal atresia, Bicornuate uterus	OMIM:191830
Degcags Syndrome	Oral-pharyngeal dysphagia, Premature graying of hair, Cholestasis, Hepatosplenomegaly, Protruding...	OMIM:619488
Letterer-Siwe Disease	Jaundice, Hepatosplenomegaly, Seborrheic dermatitis, Stomatitis	OMIM:246400
Seckel Syndrome 7	Hypoplasia of the uterus	OMIM:614851
Menkes Disease	Sparse hair, Gastrointestinal hemorrhage, Atypical scarring of skin, Chondrocalcinosis, Umbilical...	ORPHA:565
Kallmann Syndrome	Abnormal morphology of female internal genitalia, Decreased testicular size, Obesity, Breast hypo...	ORPHA:478
Ulnar-Mammary Syndrome	Abnormality of the uterus, Breast aplasia, Obesity, Cryptorchidism, Hypoplastic nipples, Absent a...	ORPHA:3138
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:424
Familial Pancreatic Carcinoma	Elevated circulating hepatic transaminase concentration, Intestinal pseudo-obstruction, Exocrine ...	ORPHA:1333
Juvenile Polyposis Syndrome	Stomach cancer, Juvenile gastrointestinal polyposis, Multiple lipomas, Small intestinal polyposis...	ORPHA:2929
46,Xy Sex Reversal 4	Gonadal dysgenesis, Hypoplastic labia majora, Hypoplasia of the uterus, Agonadism, Hypergonadotro...	OMIM:154230
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Uterus didelphys, Septate vagina, Aplasia of the vagina, Aplasia of the uterus, Hypoparathyroidism	OMIM:146255
Xeroderma Pigmentosum, Complementation Group A	Defective DNA repair after ultraviolet radiation damage	OMIM:278700
Brittle Cornea Syndrome	Corneal scarring, Abnormality of hair pigmentation, Hernia, Camptodactyly, Cleft palate	ORPHA:90354
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Currarino Syndrome	Presacral teratoma, Septate vagina, Rectovaginal fistula, Bicornuate uterus	OMIM:176450
Cutis Laxa, Autosomal Recessive, Type Ib	Spina bifida, Neonatal death	OMIM:614437
Fanconi Anemia, Complementation Group P	Chromosomal breakage induced by crosslinking agents	OMIM:613951
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in males, Congenital adrenal hyperplasia, De...	OMIM:202010
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:168558
Xeroderma Pigmentosum, Complementation Group D	Defective DNA repair after ultraviolet radiation damage	OMIM:278730
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatic failure, Hypertrichosis, Pancreatic lymphangiectasis, Hepatos...	ORPHA:1655
Mody	Pancreatic hypoplasia, Obesity, Large for gestational age, Hepatocellular adenoma, Overweight	ORPHA:552
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Primary amenorrhea, Testicular atrophy, Premature ovarian insufficiency, Secondary amenorrhea, Hy...	OMIM:157640
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Pate...	OMIM:300048
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Midshaft hypospadias, Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnor...	ORPHA:289548
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Unusual skin infection, Osteomyelitis, Arthralgia/arthrit...	ORPHA:449280
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased body weight, Macronodular adrenal hyperplasia, Abdominal obesity	OMIM:615954
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal male external genitalia morphology, Abnormal ovarian morphology, Disproportionate tall s...	ORPHA:95699
Vici Syndrome	Hypopigmentation of the skin, Failure to thrive, Chronic mucocutaneous candidiasis, Ocular albini...	OMIM:242840
Rubinstein-Taybi Syndrome 1	Spina bifida occulta, Spina bifida	OMIM:180849
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Uterus didelphys, Hamartoma of tongue, Septate vagina, Absent gallbladder, Low posterior hairline...	OMIM:617925
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Ehlers-Danlos Syndrome, Classic-Like, 1	Ambiguous genitalia, female, Bicornuate uterus	OMIM:606408
Smith-Magenis Syndrome	Increased body weight, Synophrys	OMIM:182290
Xfe Progeroid Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:610965
Mosaic Variegated Aneuploidy Syndrome	Rhabdomyosarcoma, Vaginal neoplasm, Intrauterine growth retardation, Stomach cancer, Myelodysplas...	ORPHA:1052
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Sotos Syndrome	Sparse eyebrow, High anterior hairline, Tall stature, Cryptorchidism, Increased body weight, Over...	OMIM:117550
Matthew-Wood Syndrome	Annular pancreas, Failure to thrive, Abnormality of the uterus, Cryptorchidism, Aplasia/Hypoplasi...	ORPHA:2470
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent pneumonia, Glioma, Progressive vitiligo, Lymphoma, Retinal pigment epith...	OMIM:251260
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Imperforate hymen, Small scrotum, Axillary apocrine gland hypoplasia...	OMIM:181450
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Cryptorchidism, Motor stereotypy, Patent ductus arteriosus, Self-injurious behavior, Keloids, Gas...	ORPHA:353281
Familial Gestational Hyperthyroidism	Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Weight loss,...	ORPHA:99819
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Hypoplasia of the uterus	OMIM:617914
Malakoplakia	Inflammatory abnormality of the skin, Urinary bladder inflammation, Neoplasm of the colon, Skin r...	ORPHA:556
Meckel Syndrome 12	Vaginal atresia, Hypoplasia of the uterus	OMIM:616258
Hand-Foot-Genital Syndrome	Bicornuate uterus, Hypospadias, Abnormality of the uterus	ORPHA:2438
Chromosome 17Q12 Deletion Syndrome	Highly arched eyebrow, Sparse eyebrow, Elevated circulating hepatic transaminase concentration, H...	OMIM:614527
Femoral-Facial Syndrome	Encephalocele, Spina bifida	OMIM:134780
Nijmegen Breakage Syndrome	Abnormality of neuronal migration, Abnormality of chromosome stability	ORPHA:647
Woodhouse-Sakati Syndrome	Alopecia, Fine hair, Decreased testicular size, Hypogonadotropic hypogonadism, Micropenis, Hypopl...	OMIM:241080
Chédiak-Higashi Syndrome	Iris hypopigmentation, Elevated circulating hepatic transaminase concentration, Periodontitis, Hy...	ORPHA:167
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Large for gestational age, Increased hep...	ORPHA:263455
Perlman Syndrome	Renal hamartoma, Nephroblastomatosis, Large for gestational age, Cryptorchidism, Nephroblastoma	OMIM:267000
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Polydipsia, Failure to thrive, Retinal pigm...	OMIM:219800
Fanconi Anemia, Complementation Group N	Chromosomal breakage induced by crosslinking agents	OMIM:610832
Oculocerebrorenal Syndrome Of Lowe	Hyperparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Fai...	ORPHA:534
Otopalatodigital Syndrome, Type Ii	Hydrocephalus, Stillbirth, Spina bifida, Umbilical hernia	OMIM:304120
Exstrophy-Epispadias Complex	Hydrocephalus, Spina bifida	ORPHA:322
Oeis Complex	Ambiguous genitalia, female, Absent scrotum, Cryptorchidism, Ambiguous genitalia, male, Bifid ute...	OMIM:258040
Adrenomyeloneuropathy	Frontal balding, Male sexual dysfunction, Lip hyperpigmentation, Female sexual dysfunction, Fine ...	ORPHA:139399
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston...	ORPHA:209902
Hand-Foot-Genital Syndrome	Uterus didelphys, Bifid scrotum, Chordee, Micropenis, Hypospadias, Longitudinal vaginal septum	OMIM:140000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Parathyroid hypoplasia, Uterus didelphys, Septate vagina, Hypoparathyroidism, Aplasia of the uter...	ORPHA:2237
Craniolenticulosutural Dysplasia	Coarse hair, Capillary hemangioma, Hyperpigmentation of the skin, Abnormality of skin pigmentatio...	ORPHA:50814
Blue Diaper Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:94086
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Endometriosis	OMIM:613680
Autosomal Recessive Polycystic Kidney Disease	Protein-losing enteropathy, Gastrointestinal hemorrhage, Hepatic fibrosis, Periportal fibrosis, R...	ORPHA:731
Acromesomelic Dysplasia 3	Hypoplasia of the uterus, Elevated circulating luteinizing hormone level, Elevated circulating fo...	OMIM:609441
Townes-Brocks Syndrome 2	Bifid uterus, Rectovaginal fistula, Hypospadias	OMIM:617466
Smith-Lemli-Opitz Syndrome	Self-injurious behavior, Gastroesophageal reflux, Microglossia, Abnormal dental enamel morphology...	ORPHA:818
Popliteal Pterygium Syndrome	Small scrotum, Bifid scrotum, Cryptorchidism, Hypoplastic labia majora, Hypoplasia of the uterus,...	OMIM:119500
Acrorenal-Mandibular Syndrome	Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple	OMIM:200980
Hereditary Sensory And Autonomic Neuropathy Type 4	Atypical scarring of skin, Septic arthritis, Fasciitis, Osteomyelitis, Corneal scarring, Self-mut...	ORPHA:642
Incontinentia Pigmenti	Alopecia, Coarse hair, Fine hair, Supernumerary nipple, Breast aplasia, Breast hypoplasia, Atroph...	OMIM:308300
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Adrenal hyperplasia, Increase...	ORPHA:99889
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Weight loss, Hematochezia	ORPHA:103910
Dubowitz Syndrome	Sparse lateral eyebrow, Fine hair, Lymphoma, Abnormal female external genitalia morphology, Postn...	ORPHA:235
Acro-Renal-Mandibular Syndrome	Bicornuate uterus, Uterus didelphys	ORPHA:958
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Septate vagina, Labial hypoplasia, Rectovaginal fistula, Small for gestatio...	OMIM:300707
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Recurrent otitis media, Hepatic steatosis, Abnormal hepatic echoge...	OMIM:619991
Woodhouse-Sakati Syndrome	Alopecia, Hypogonadism, Decreased testicular size, Decreased response to growth hormone stimulati...	ORPHA:3464
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Clitoral hypertrophy, Long penis, Precocious puberty in females, Failure to thrive, Frontal baldi...	ORPHA:90794
Duplication Of Urethra	Clitoral hypertrophy, Uterus didelphys, Bifid scrotum, Septate vagina, Penile hypospadias, Chorde...	ORPHA:237
Blepharophimosis, Ptosis, And Epicanthus Inversus	Sparse pubic hair, Highly arched eyebrow, Hypoplasia of the uterus, Increased circulating gonadot...	OMIM:110100
Ectodermal Dysplasia-Blindness Syndrome	Short stature, Fine hair, Sparse hair, Abnormality of skin pigmentation	ORPHA:1806
Bardet-Biedl Syndrome 12	Hypogonadism, Vaginal atresia, Obesity, Hydrometrocolpos	OMIM:615989
Tarp Syndrome	Failure to thrive, Thick eyebrow, Cryptorchidism, Abnormal hair pattern, Abnormal duodenum morpho...	ORPHA:2886
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Ocular albinism, Inguinal hernia, Cryptorchidism, Hypopigmentation of hair	ORPHA:2719
De Sanctis-Cacchione Syndrome	Defective DNA repair after ultraviolet radiation damage	OMIM:278800
Metachromatic Leukodystrophy	Addictive behavior, Abnormal stomach morphology, Abnormal duodenum morphology, Abnormal gallbladd...	ORPHA:512
Renal Cysts And Diabetes Syndrome	Elevated circulating hepatic transaminase concentration, Pancreatic hypoplasia, Biliary tract abn...	OMIM:137920
Bartsocas-Papas Syndrome 1	Absent external genitalia, Alopecia, Bilateral cryptorchidism, Alopecia totalis, Absent eyelashes...	OMIM:263650
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Cachexia, Azoospermia, Delayed puberty, Cholelithiasis	ORPHA:2072
Curry-Jones Syndrome	Occipital meningocele, Lipomyelomeningocele	OMIM:601707
Pseudotrisomy 13 Syndrome	Micropenis, Bicornuate uterus, Cryptorchidism	OMIM:264480
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Oral-pharyngeal dysphagia, Anorexia, Intestinal...	ORPHA:95455
Familial Cutaneous Collagenoma	Abnormality of skin pigmentation	ORPHA:53296
Microsporidiosis	Abnormality of the parathyroid gland, Hepatitis, Biliary tract abnormality, Abnormal endometrium ...	ORPHA:2552
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, High palate, Widow's peak, Hypopigmentation of hair	ORPHA:1974
Opitz Gbbb Syndrome	Bifid scrotum, Cryptorchidism, Enlarged ovaries, Shawl scrotum, Bicornuate uterus, Hypospadias, W...	ORPHA:2745
Genitourinary And/Or Brain Malformation Syndrome	Clitoral hypertrophy, Uterus didelphys, Gonadal dysgenesis, Streak ovary, Cryptorchidism, Chordee...	OMIM:618820
Donnai-Barrow Syndrome	Bicornuate uterus	OMIM:222448
Lathosterolosis	Intrauterine growth retardation, Meningocele	ORPHA:46059
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Anencephaly, Hydrocephalus, Occipital meningocele	OMIM:616546
Fryns Syndrome	Bicornuate uterus, Hypospadias, Cryptorchidism	ORPHA:2059
Hypoplasminogenemia	Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis	ORPHA:722
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Microphthalmia, Syndromic 9	Hypoplasia of the uterus, Bicornuate uterus, Cryptorchidism	OMIM:601186
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
Smith-Lemli-Opitz Syndrome	Precocious puberty, Small scrotum, Cholestatic liver disease, Failure to thrive, Bifid scrotum, S...	OMIM:270400
Fryns Syndrome	Ectopic pancreatic tissue, Bifid scrotum, Facial hirsutism, Large for gestational age, Cryptorchi...	OMIM:229850
Igg4-Related Kidney Disease	Inflammatory abnormality of the skin, Lymphadenitis, Arteritis, Decreased liver function, Urinary...	ORPHA:449395
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Hepatic fibrosis, Alopecia, Elevated circulating hepatic transaminase ...	ORPHA:881
Riddle Syndrome	Chromosomal breakage induced by ionizing radiation	ORPHA:420741
Lesch-Nyhan Syndrome	Testicular atrophy	OMIM:300322
Beckwith-Wiedemann Syndrome	Abnormal pancreas morphology, Tall stature, Obesity, Large for gestational age, Neoplasm, Cryptor...	ORPHA:116
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Micropenis, High anterior hairline, Hypospadias, Endometriosis	ORPHA:363444
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Meningocele, Occipital encephalocele	ORPHA:397715
Ablepharon Macrostomia Syndrome	Fine hair, Abnormal female external genitalia morphology, Breast hypoplasia, Absent eyelashes, Ab...	ORPHA:920
Meningioma	Chromosomal breakage induced by ionizing radiation, Hydrocephalus	ORPHA:2495
Ring Chromosome 7 Syndrome	Highly arched eyebrow, Hypogonadism, Low anterior hairline, Melanoma, Facial hemangioma, Short st...	ORPHA:1449
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Highly arched eyebrow, Elevated circulating luteinizing hormone level, Lacrimal gland hypoplasia,...	ORPHA:572333
Ring Chromosome 13 Syndrome	Alopecia, Growth delay, Bifid scrotum, Retinoblastoma, Ambiguous genitalia, Urogenital sinus anom...	ORPHA:96176
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia	Meningocele	ORPHA:1010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large placenta, Intrauterine growth retardation, Spinal dysraphism	ORPHA:96334
Phocomelia, Schinzel Type	Intrauterine growth retardation, Meningocele	ORPHA:2879
Duane Retraction Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Patchy hypopigmen...	ORPHA:233
Norrie Disease	Failure to thrive, Uterine rupture, Cryptorchidism, Cachexia, Neoplasm of the eye, Vascular neoplasm	ORPHA:649
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal...	OMIM:155310
Pruritic Urticarial Papules And Plaques Of Pregnancy	Increased body weight	ORPHA:64745
Holoprosencephaly 7	Alobar holoprosencephaly, Semilobar holoprosencephaly, Hydrocephalus, Holoprosencephaly, Occipita...	OMIM:610828
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Ovotestis, Chordee, Micropenis, Hypoplasia of the uterus, Hypospadias	OMIM:309801
Cholangiocarcinoma	Biliary tract neoplasm, Acholic stools, Anorexia, Jaundice, Pruritus	ORPHA:70567
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome	Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia	ORPHA:140952
Pontocerebellar Hypoplasia Type 7	Clitoral hypertrophy, Microphallus, Gonadal dysgenesis, Cryptorchidism, Aplasia of the uterus, Am...	ORPHA:284339
Meacham Syndrome	Septate vagina, Male pseudohermaphroditism, Bicornuate uterus, Blind vagina	OMIM:608978
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Hypogonadism, Postnatal growth retardation, ...	OMIM:163950
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Abnormal hair whorl, Aplasia of the vagina	ORPHA:457284
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Small scrotum, Clitoral hypertrophy, Vesicovaginal fistula, Bifid scrotum, Cryptorchidism, Ovaria...	OMIM:201750
Microphthalmia With Linear Skin Defects Syndrome	Abnormal penis morphology, Severe short stature, Clitoral hypertrophy, Growth delay, Hypopigmente...	ORPHA:2556
Steinert Myotonic Dystrophy	Male hypogonadism, Cholelithiasis, Decreased response to growth hormone stimulation test, Decreas...	ORPHA:273
X-Linked Intellectual Disability, Snyder Type	Testicular atrophy, Abnormality of the Leydig cells, Hypospadias, Cryptorchidism	ORPHA:3063
Proteus Syndrome	Rib exostoses, Exostosis of the external auditory canal, Generalized hirsutism, Visceral angiomat...	ORPHA:744
Lymphangioleiomyomatosis	Abnormal morphology of female internal genitalia, Ungual fibroma, Pulmonary lymphangiomyomatosis,...	ORPHA:538
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Cholestasis, Hepatosplenomegaly, Cryptorchidism, Hepatic steatosis, Curly hair, Thyroid hypoplasi...	OMIM:619503
Cystic Fibrosis	Decreased body mass index, Absent vas deferens, Failure to thrive, Male infertility	ORPHA:586
Fraser Syndrome 1	Clitoral hypertrophy, Extension of hair growth on temples to lateral eyebrow, Cryptorchidism, Abs...	OMIM:219000
Acrofacial Dysostosis, Rodríguez Type	Abnormality of the uterus	ORPHA:1788
Cushing Disease	Pituitary corticotropic cell adenoma, Adrenal hyperplasia, Hirsutism, Increased body weight, Trun...	ORPHA:96253
Diarrhea 10, Protein-Losing Enteropathy Type	Protein-losing enteropathy, Hypothyroidism, Hematochezia, Cryptorchidism	OMIM:618183
Orofaciodigital Syndrome Vi	Occipital meningocele	OMIM:277170
Fraser Syndrome	Small scrotum, Abnormal vagina morphology, Female pseudohermaphroditism, Cryptorchidism, Abnormal...	ORPHA:2052
Okamoto Syndrome	Bifid uterus, Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Hype...	ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type	Uterine rupture, Cystocele, Alopecia of scalp, Cryptorchidism, Uterine prolapse, Cervical insuffi...	OMIM:130050
Acrofacial Dysostosis 1, Nager Type	Bicornuate uterus, Sparse lower eyelashes, Absent lower eyelashes	OMIM:154400
Cystic Fibrosis	Failure to thrive, Male infertility	OMIM:219700
Cornelia De Lange Syndrome	Highly arched eyebrow, Failure to thrive, Abnormality of the uterus, Long eyelashes, Curly eyelas...	ORPHA:199
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Small scrotum, Cryptorchidism, Aplasia of the uterus, Anteriorly displaced genitalia, Hypoplastic...	OMIM:276820
Knobloch Syndrome 1	Spina bifida occulta, Occipital encephalocele, Occipital meningocele	OMIM:267750
Loeys-Dietz Syndrome	Tall stature, Uterine rupture	ORPHA:60030
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Townes-Brocks Syndrome 1	Bifid scrotum, Cryptorchidism, Rectoperineal fistula, Bifid uterus, Rectovaginal fistula, Hypospa...	OMIM:107480
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus	ORPHA:3320
Roberts-Sc Phocomelia Syndrome	Sparse hair, Clitoral hypertrophy, Long penis, Cavernous hemangioma of the face, Enlarged labia m...	OMIM:268300
Hydrolethalus Syndrome 1	Bifid uterus, Adrenal gland dysgenesis, Hypospadias, Abnormal vagina morphology	OMIM:236680
Peters-Plus Syndrome	Facial hypertrichosis, Cryptorchidism, Decreased body weight, Biliary tract abnormality, Hypoplas...	OMIM:261540
Cardiac-Urogenital Syndrome	Bifid scrotum, Cryptorchidism, Aplasia of the uterus, Ambiguous genitalia, Penoscrotal hypospadia...	OMIM:618280
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the uterus, Absent external genitalia, Aplasia of the vagina	OMIM:271520
Arima Syndrome	Occipital meningocele	OMIM:243910
Hermansky-Pudlak Syndrome 6	Albinism, Perineal fistula, Endometriosis	OMIM:614075
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicornuate uterus, Hypospadias, Annular pancreas	OMIM:265380
Holoprosencephaly 9	Holoprosencephaly, Alobar holoprosencephaly, Occipital meningocele, Hydrocephalus	OMIM:610829
Lacrimoauriculodentodigital Syndrome	Abnormal salivary gland morphology, Bicornuate uterus, Cryptorchidism, Lacrimal gland aplasia	ORPHA:2363
Marfan Syndrome	Meningocele, Dural ectasia	ORPHA:558
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Uterus didelphys, Cryptorchidism, Congenital hepatic fibrosis, Ambiguous genitalia, Hypoplasia of...	ORPHA:93271
Vascular Ehlers-Danlos Syndrome	Alopecia, Uterine rupture, Cystocele, Cryptorchidism, Uterine prolapse, Aplasia/Hypoplasia of the...	ORPHA:286
Hellp Syndrome	Increased body weight, Elevated circulating hepatic transaminase concentration	ORPHA:244242
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Facial hypertrichosis, Dry hair, Hypertrichosis, Long eyelashes, Thick eyeb...	OMIM:135900
Peters Plus Syndrome	Cryptorchidism, Hypoplasia of the uterus, Hypospadias, Anterior hypopituitarism, Clitoral hypoplasia	ORPHA:709
Coffin-Lowry Syndrome	Highly arched eyebrow, Coarse hair, Thick eyebrow, Uterine prolapse, Decreased body weight	OMIM:303600
Wolf-Hirschhorn Syndrome	Precocious puberty, Highly arched eyebrow, Cryptorchidism, Low posterior hairline, Aplasia of the...	OMIM:194190
Cutis Laxa, Autosomal Dominant 1	Uterine prolapse	OMIM:123700
Pallister-Killian Syndrome	Small scrotum, Sparse eyebrow, Alopecia, Supernumerary nipple, Sparse anterior scalp hair, Crypto...	OMIM:601803
Townes-Brocks Syndrome	Abnormal vagina morphology, Abnormality of the uterus, Bifid scrotum, Failure to thrive, Cryptorc...	ORPHA:857
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Precocious puberty, High anterior hairline, Increased circulating prolactin concentration, Crypto...	ORPHA:438213
Primary Peritoneal Carcinoma	Neoplasm	ORPHA:168829
Aneurysm-Osteoarthritis Syndrome	Disproportionate tall stature, Uterine prolapse	ORPHA:284984
Classical Ehlers-Danlos Syndrome	Cervical insufficiency, Uterine prolapse	ORPHA:287
Loeys-Dietz Syndrome 3	Cystocele, Disproportionate tall stature, Uterine prolapse	OMIM:613795

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 Brca1

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 Brca1.

No publications found that use IMPC mice or data for Brca1.

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.

MGI Allele	Allele Type	Produced
Brca1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us