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Gene: Brca1 MGI:104537

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... ORPHA:1333
Fanconi Anemia
Umbilical hernia, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:84
Cholangiocarcinoma
Anorexia, Pruritus, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Primary Peritoneal Carcinoma
Neoplasm ORPHA:168829

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure 17
Male infertility OMIM:617214
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect OMIM:615041
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation, Infertility OMIM:300719
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Angioma, Tufted
Abnormality of skin pigmentation, Tufted angioma OMIM:607859
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Dyschromatosis Universalis Hereditaria
Short stature, Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multip... ORPHA:241
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Fraxf Syndrome
Folate-dependent fragile site at Xq28 ORPHA:100974
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Trichohepatoenteric Syndrome 2
Hepatomegaly, Villous atrophy, Brittle hair, Small for gestational age, Chronic hepatitis, Coliti... OMIM:614602
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation, Neoplasm, Neoplasm of the skin ORPHA:315
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... OMIM:620356
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Anencephaly, Spina bifida ORPHA:2476
Netherton Syndrome
Sparse scalp hair, Villous atrophy, Brittle hair, Recurrent skin infections, Allergic rhinitis, E... OMIM:256500
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Spina bifida OMIM:211960
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Diarrhea 5, With Tufting Enteropathy, Congenital
Villous atrophy, Small for gestational age, Arthritis, Crypt hyperplasia, Failure to thrive OMIM:613217
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Alopecia, Villous atrophy, Glomerulonephritis, Eczema, Ileus, Hepatitis, Arthritis, Erythroderma,... OMIM:304790
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Hirsutism, Gonadal calcification, G... ORPHA:206484
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Aplasia Cutis Congenita
Spinal dysraphism ORPHA:1114
Nevus Comedonicus Syndrome
Spina bifida occulta, Spina bifida ORPHA:64754
Congenital Herpes Simplex Virus Infection
Hydranencephaly, Intrauterine growth retardation ORPHA:293
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Schisis Association
Encephalocele, Anencephaly, Spina bifida ORPHA:63862
Congenital Ichthyosiform Erythroderma
Alopecia, Keratitis, Pruritus, Hypohidrosis, Erythroderma, Failure to thrive, Abnormality of the ... ORPHA:79394
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Inflammatory Skin And Bowel Disease, Neonatal, 1
Villous atrophy, Duodenitis, Pustule, Paronychia, Erythroderma, Failure to thrive, Blepharitis, O... OMIM:614328
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Syringomyelia OMIM:207950
Ichthyosis, Hystrix-Like, With Deafness
Sparse scalp hair, Sparse eyelashes, Absent eyelashes, Scarring alopecia of scalp, Sparse eyebrow... OMIM:602540
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Villous atrophy, Psoriasiform dermatitis, Failure to thrive in infancy, Eczema, Thyroiditis, Eryt... OMIM:606367
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Brittle hair, Small for gestational age, Trichoschisis, Malabsorption, Fl... OMIM:601675
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Ichthyosis With Confetti
Pruritus, Erythroderma, Hypoplastic nipples, Decreased body weight, Hypertrichosis OMIM:609165
Coffin-Siris Syndrome 8
Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Aggressive behavior, Cryptorchidism, S... OMIM:618362
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Kerion Celsi
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... ORPHA:499
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Ovarian Fibrothecoma
Diffuse leiomyomatosis, Ovarian fibroma, Abnormal endometrium morphology, Gonadal calcification, ... ORPHA:314478
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Uterine Anomalies
Bicornuate uterus, Abnormality of the uterus OMIM:192000
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Syndromic Diarrhea
Hepatomegaly, Hypopigmentation of hair, Brittle hair, Small for gestational age, Gastritis, Hepat... ORPHA:84064
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Spermatogenic Failure, X-Linked, 1
Sertoli cell-only phenotype, Obesity OMIM:305700
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Pityriasis Rubra Pilaris
Subungual hyperkeratosis, Eczema, Pruritus, Pustule, Neoplasm, Erythroderma, Irregular hyperpigme... ORPHA:2897
Joubert Syndrome 15
Exencephaly OMIM:614464
Sézary Syndrome
Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Pruritus, Lymphoma, Nail dystrophy, Neoplasm o... ORPHA:3162
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Netherton Syndrome
Sparse scalp hair, Skin rash, Eczema, Sparse eyelashes, Malabsorption, Sparse eyebrow, Abnormal h... ORPHA:634
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Diarrhea 12, With Microvillus Atrophy
Villous atrophy, Microvillus inclusions, Bronchiectasis, Microvillar PAS-positive secretory granules OMIM:619445
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Pruritus, Lymphoma, Thyroiditis, Erythroderma, Failure to thri... ORPHA:39041
Diarrhea 9
Villous atrophy, Failure to thrive OMIM:618168
Obesity Due To Prohormone Convertase I Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypopigmentation of the skin, Decreased response to growth hormone stimulation test, Increased ad... ORPHA:71526
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Lymphoproliferative disorder, Pneumonia, Erythema nodosum, R... OMIM:614700
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Alopecia-Intellectual Disability Syndrome 4
Bilateral cryptorchidism, Alopecia, Agitation, Erythroderma OMIM:618840
Neural Tube Defects, Susceptibility To
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus OMIM:182940
Peeling Skin Syndrome 1
Brittle hair, Pruritus, Onycholysis, Nail dystrophy, Palmoplantar hyperhidrosis, Erythroderma OMIM:270300
Syndromic X-Linked Intellectual Disability 7
Hypoplasia of penis, Cryptorchidism, Obesity, Hypogonadism, Micropenis, Sparse body hair ORPHA:85274
Diarrhea 7, Protein-Losing Enteropathy Type
Villous atrophy, Failure to thrive, Protein-losing enteropathy OMIM:615863
Diethylstilbestrol Syndrome
Hypospadias, Vaginal neoplasm, Small for gestational age, Abnormal reproductive system morphology... ORPHA:1916
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Weight loss, Ovarian neoplasm, ... ORPHA:2221
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Xeroderma Pigmentosum, Complementation Group G
Defective DNA repair after ultraviolet radiation damage OMIM:278780
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Small for gestational age, Hirsutism ORPHA:85288
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Chronic Actinic Dermatitis
Late onset atopic dermatitis, Progressive hyperpigmentation, Eczema, Allergic rhinitis, Pruritus,... ORPHA:330064
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Villous atrophy, Abnormal intestine morphology OMIM:251850
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Congenital Disorder Of Glycosylation, Type Id
Villous atrophy, Flexion contracture, Joint contracture of the hand, High palate, Nail dysplasia,... OMIM:601110
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Inflammatory abnormality of the skin, Malabsorpti... ORPHA:398063
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:600546
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Adenocarcinoma Of The Esophagus
Esophageal carcinoma, Barrett esophagus, Obesity ORPHA:99976
Congenital Tufting Enteropathy
Villous atrophy, Abnormal small intestinal mucosa morphology, Elevated fecal osmolality, Malabsor... ORPHA:92050
Alpha-Heavy Chain Disease
Abnormal small intestine morphology, Hepatomegaly, Alopecia, Malabsorption, Lymphoma ORPHA:100025
Bazex-Dupre-Christol Syndrome
Hyperpigmentation of the skin, Eczema, Trichorrhexis nodosa, Atopic dermatitis, Hypohidrosis, Fur... OMIM:301845
Hydatidiform Mole
Enlarged uterus ORPHA:99927
Hereditary Breast And/Or Ovarian Cancer Syndrome
Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer, Abnormal... ORPHA:145
Lactose Intolerance, Adult Type
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223100
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Pachydermoperiostosis
Abnormal hair quantity, Hepatomegaly, Gastrointestinal hemorrhage, Osteomyelitis, Acne, Abnormal ... ORPHA:2796
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hepatosplenomegaly, Melanin pigment... OMIM:607624
Bathing Suit Ichthyosis
Alopecia, Multiple joint contractures, Hypohidrosis, Nail dystrophy, Erythroderma, Sparse hair ORPHA:100976
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Autoinflammation With Infantile Enterocolitis
Villous atrophy, Failure to thrive, Skin rash, Enterocolitis OMIM:616050
Chronic Diarrhea Due To Glucoamylase Deficiency
Decreased small intestinal mucosa lactase level, Abnormal small intestinal mucosa morphology, Mal... ORPHA:103907
Quinquaud Folliculitis Decalvans
Recurrent skin infections, Scarring, Pustule, Scarring alopecia of scalp, Abnormal hair morpholog... ORPHA:346
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Intellectual Developmental Disorder, X-Linked, Syndromic, Wilson-Turner Type
Cryptorchidism, Obesity, Thick eyebrow OMIM:309585
Isolated Klippel-Feil Syndrome
Spina bifida ORPHA:2345
Ovarian Fibroma
Odontogenic keratocysts of the jaw, Ovarian fibroma, Gonadal calcification, Basal cell carcinoma,... ORPHA:314473
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Central Precocious Puberty In Male
Astrocytoma, Acne, Abnormality of the testis size, Craniopharyngioma, Aggressive behavior, Pituit... ORPHA:649929
Alazami-Yuan Syndrome
Thick eyebrow, Hyperactivity, Highly arched eyebrow, Cryptorchidism, Synophrys, Low anterior hair... OMIM:617126
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Obesity, Abnormality of the uterus, Gonadoblastoma, Ne... OMIM:194072
Ichthyosis, Congenital, Autosomal Recessive 1
Alopecia, Flexion contracture, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair OMIM:242300
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Anophthalmia Plus Syndrome
Spina bifida ORPHA:1104
Uv-Sensitive Syndrome 1
Freckling, Neoplasm, Pigmentation anomalies of sun-exposed skin OMIM:600630
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Elevated hepatic transaminase, Alopecia, Conjunctivitis, Cirrhosis, Erythroderma, Sparse hair, Fa... OMIM:242150
Leydig Cell Hypoplasia
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... ORPHA:755
Trichohepatoenteric Syndrome 1
Curly hair, Hepatomegaly, Brittle hair, Small for gestational age, Villous atrophy, Jaundice, Cho... OMIM:222470
Ichthyosis Prematurity Syndrome
Allergic rhinitis, Pruritus, Erythroderma, Alopecia of scalp, Hyperpigmentation of the skin OMIM:608649
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Gastroesophageal reflux, Hirsutism, Bruxism OMIM:300434
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Immunodeficiency 85 And Autoimmunity
Villous atrophy, Failure to thrive in infancy, Eczema, Oligoarthritis, Erythroderma OMIM:619510
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Hypogonadotropic hypog... OMIM:308750
Endometriosis, Susceptibility To, 1
Endometriosis OMIM:131200
Congenital Disorder Of Glycosylation, Type Ib
Hepatomegaly, Villous atrophy, Steatorrhea, Hepatic fibrosis, Protein-losing enteropathy, Cirrhos... OMIM:602579
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
Bare Lymphocyte Syndrome, Type Ii
Viral hepatitis, Villous atrophy, Cholangitis, Malabsorption, Biliary tract abnormality, Chronic ... OMIM:209920
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Amed Syndrome, Digenic
Hypoplasia of the uterus, Failure to thrive, Acute myeloid leukemia, Myelodysplasia OMIM:619151
Bardet-Biedl Syndrome 11
Hypogonadism, Obesity OMIM:615988
Large Congenital Melanocytic Nevus
Congenital giant melanocytic nevus, Rhabdomyosarcoma, Hypopigmented skin patches, Abnormality of ... ORPHA:626
Lamellar Ichthyosis
Pruritus, Sparse hair, Erythroderma, Chronic otitis media, Abnormality of the nail, Aplasia/Hypop... ORPHA:313
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Spinal dysraphism, Holoprosencephaly, Int... ORPHA:1908
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, White eyelashes, White eyebrow, Abnormalit... ORPHA:897
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
Copper Deficiency, Familial Benign
Curly hair, Failure to thrive, Early balding, Seborrheic dermatitis OMIM:121270
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Psoriasiform dermatitis, Recurrent skin infections, Eosinophilic infiltration of the esophagus, M... OMIM:615508
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Phenylketonuria
Hyperactivity, Eczema, Aggressive behavior, Blue irides, Compulsive behaviors, Attention deficit ... OMIM:261600
Camptodactyly Syndrome, Guadalajara Type 1
Intrauterine growth retardation, Spina bifida ORPHA:1327
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Immunodeficiency 31C
Hepatomegaly, Villous atrophy, Osteomyelitis, Eczema, Bronchiectasis, Chronic mucocutaneous candi... OMIM:614162
Immunodeficiency 58
Recurrent cutaneous abscess formation, Helicobacter pylori infection, Eczema, Allergic rhinitis, ... OMIM:618131
Primary Intestinal Lymphangiectasia
Increased stool alpha1-antitrypsin concentration, Disseminated cutaneous warts, Functional abnorm... ORPHA:90362
Congenital Vertical Talus
Myelomeningocele ORPHA:178382
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Müllerian Aplasia And Hyperandrogenism
Thick eyebrow, Frontal balding, Synophrys, Obesity, Hypoplasia of the uterus, Facial hirsutism, H... ORPHA:247768
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
X-Linked Dominant Chondrodysplasia Punctata
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Flexion cont... ORPHA:35173
Complete Androgen Insensitivity Syndrome
Tall stature, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone level,... ORPHA:99429
Czeizel-Losonci Syndrome
Myelomeningocele, Spina bifida occulta, Hydrocephalus, Spina bifida ORPHA:2437
Thoraco-Abdominal Enteric Duplication
Diastomatomyelia, Meningocele ORPHA:1759
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Nasofrontal encephalocele ORPHA:101030
Monosomy 22
Aplasia of the thymus, Seborrheic dermatitis, Synophrys, Schwannoma, Hepatosplenomegaly, Hyperhid... ORPHA:96123
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hyperactivity, Hypopigmentation of hair, Polyphagia, Obesity, Inappropriate laughter, Hypopigment... ORPHA:411515
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Alopecia, Cachexia, Anorexia, Malabsorption, Xerostomia, Hamartomatous polyposis, Hematochezia, P... OMIM:175500
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Osteootohepatoenteric Syndrome
Ileoileal intussusception, Villous atrophy, Increased intestinal transit time, Pruritus, Microves... OMIM:619377
Acrodysplasia Scoliosis
Spina bifida occulta ORPHA:2956
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hepatomegaly, Mixed hypo- and hyperpigmentation of the skin, Pruritu... ORPHA:79456
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
N Syndrome
Abnormality of chromosome stability OMIM:310465
Pearson Marrow-Pancreas Syndrome
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Small for gest... OMIM:557000
Obesity And Hypopigmentation
Red hair, Polyphagia, Hepatic steatosis, Obesity OMIM:620195
Epidermodysplasia Verruciformis
Recurrent skin infections, Seborrheic dermatitis, Pustule, Hypopigmented skin patches, Squamous c... ORPHA:302
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Cholestasis, Hematochezia, In... OMIM:615895
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Cardiac myxoma, Pituitary adenoma, Palatine my... OMIM:160980
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Hypopigme... ORPHA:90342
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Xerostomia, Hypohidrosis, Aplasia/H... ORPHA:238468
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Adiposis Dolorosa
Obesity, Painful subcutaneous lipomas OMIM:103200
Proprotein Convertase 1/3 Deficiency
Decreased circulating cortisol level, Malabsorption, Obesity, Villous atrophy OMIM:600955
Waardenburg Syndrome Type 1
Meningocele, Spina bifida ORPHA:894
Wildervanck Syndrome
Meningocele ORPHA:3456
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Iniencephaly
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Spinal dysraphism, Syr... ORPHA:63259
Congenital Lethal Erythroderma
Congenital exfoliative erythroderma, Failure to thrive, Malabsorption ORPHA:1954
Bullous Diffuse Cutaneous Mastocytosis
Pruritus, Profuse pigmented skin lesions, Cutaneous mastocytosis, Erythroderma ORPHA:280785
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Pieba... ORPHA:2884
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Fanconi Anemia, Complementation Group G
Abnormality of chromosome stability OMIM:614082
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Villous atrophy, Ecz... ORPHA:391487
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Obesity, Hirsutism OMIM:184700
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... OMIM:233420
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of the skin, Hypopigmentation of hair, Obesity, Polyphagia, Iris hypopigmentation ORPHA:177910
Burkitt Lymphoma
Neoplasm of the oral cavity, Abnormality of the liver, Abnormality of the ovary ORPHA:543
Congenital Disorder Of Glycosylation, Type Ia
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Villous atrophy, Hypothyroidism, Abnor... OMIM:212065
Ataxia-Telangiectasia
Elevated hepatic transaminase, Hypopigmentation of hair, Polycystic ovaries, Premature graying of... ORPHA:100
Fountain Syndrome
Spina bifida occulta, Spina bifida ORPHA:3219
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Malabsorpti... ORPHA:47
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Hepatosplenomegaly, Alopecia, Failure to thrive, Erythroderma ORPHA:169154
Nijmegen Breakage Syndrome-Like Disorder
Chromosomal breakage induced by ionizing radiation OMIM:613078
Fanconi Anemia, Complementation Group J
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609054
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Azoospermia, Bicornuate uterus, Low posterior hairline, Aplasia/hypoplasia of the uterus ORPHA:2578
Fg Syndrome 3
Hyperactivity, Cryptorchidism, Pyloric stenosis, Fine hair, Frontal upsweep of hair, Sparse hair,... OMIM:300406
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Humero-Radial Synostosis
Meningocele ORPHA:3265
Familial Melanoma
Neoplasm of the pancreas, Abnormal hair morphology, Melanoma, Neoplasm of the breast, Freckling ORPHA:618
Cerebrocostomandibular Syndrome
Spina bifida, Myelomeningocele, Meningocele, Hydranencephaly, Intrauterine growth retardation ORPHA:1393
Ovarian Dysgenesis 2
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Hirsutism OMIM:300510
Amish Lethal Microcephaly
Spina bifida ORPHA:99742
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Chronic oral candidiasis, Pneumonia, Anorexia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly... ORPHA:169160
Omenn Syndrome
Hepatomegaly, Alopecia, Pneumonia, Hypoplasia of the thymus, Erythroderma, Failure to thrive OMIM:603554
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Hepatomegaly, Villous atrophy, Small for gestational age, Portal h... ORPHA:567983
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Subungual hyperkeratosis, Eczema, Trichorrhexis nodosa, Scarring alopecia of scalp, Hypoplastic s... OMIM:617337
Alg9-Cdg
Omphalocele, Hepatomegaly, Villous atrophy, Lipodystrophy, Low posterior hairline, Periportal fib... ORPHA:79328
Microvillus Inclusion Disease
Pruritus, Villous atrophy, Abnormal small intestinal villus morphology ORPHA:2290
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Spina bifida ORPHA:1120
Chylomicron Retention Disease
Failure to thrive, Accumulation of lipid droplets in small-bowel enterocytes, Steatorrhea OMIM:246700
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613265
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Large for gestational age OMIM:601820
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Absent pubic hair, Hypoplasia of the uterus, Gona... OMIM:612964
Meckel Syndrome, Type 2
Encephalocele, Intrauterine growth retardation, Meningocele, Anencephaly OMIM:603194
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss, Conjunctival hamartoma, Erythroderma ORPHA:312
Papillon-Lefèvre Syndrome
Recurrent cutaneous abscess formation, Liver abscess, Severe periodontitis, Recurrent skin infect... ORPHA:678
Immunodeficiency 82 With Systemic Inflammation
Villous atrophy, Osteomyelitis, Skin rash, Pneumonia, Recurrent skin infections, Gastritis, B-cel... OMIM:619381
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Pruritus, Hypohidrosis, Sparse ha... OMIM:618535
Cortisone Reductase Deficiency 1
Precocious puberty, Alopecia, Obesity, Hirsutism OMIM:604931
Meckel Syndrome, Type 4
Encephalocele, Hydrocephalus, Meningocele, Anencephaly, Intrauterine growth retardation OMIM:611134
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Hypopigmentation of hair, Gastroesophageal reflux, Decreased liver function, Dysphagia, Failure t... ORPHA:70472
Breast-Ovarian Cancer, Familial, Susceptibility To, 1
Breast carcinoma, Ovarian neoplasm OMIM:604370
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Vanishing testis, El... OMIM:273250
Trichothiodystrophy
Ridged nail, Congenital exfoliative erythroderma, Brittle hair, Multiple joint contractures, High... ORPHA:33364
Pili Torti-Onychodysplasia Syndrome
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Cleft palate, Nail dystrophy, T... ORPHA:2890
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Transcobalamin Deficiency
Abnormality of chromosome stability ORPHA:859
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,... ORPHA:139402
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Meningocele, Lipomyelomeningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Acrodysostosis 2 With Or Without Hormone Resistance
Hyperactivity, Cryptorchidism, Blue irides, Obesity, Congenital hypothyroidism, Red hair, Fair hair OMIM:614613
Fragile X Syndrome
Folate-dependent fragile site at Xq28, Periventricular heterotopia OMIM:300624
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Diaphanospondylodysostosis
Myelomeningocele ORPHA:66637
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Hy... OMIM:600145
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Angular cheilitis, Sparse eyebrow, Steatoc... OMIM:167210
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:588
Familial Supernumerary Nipples
Supernumerary nipple ORPHA:2456
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Growth delay, Nail dystrophy, Spars... ORPHA:79402
Immunodeficiency 54
Intrauterine growth retardation, Chromosome breakage OMIM:609981
Pelvis-Shoulder Dysplasia
Hydranencephaly, Hydrocephalus, Spina bifida ORPHA:2839
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Pustule, Overweight, Cheilitis, Uveitis, Obesity, Arthritis, Palmo... ORPHA:247353
Satoyoshi Syndrome
Abnormal hair morphology, Hypoplasia of the uterus, Sparse or absent eyelashes, Hypoplasia of the... ORPHA:3130
Perrault Syndrome 4
Increased circulating gonadotropin level, Obesity, Hypoplasia of the uterus, Disproportionate tal... OMIM:615300
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Melan... ORPHA:79434
Chondrodysplasia Punctata 2, X-Linked Dominant
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Failure to thrive OMIM:302960
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Neu-Laxova Syndrome 2
Intrauterine growth retardation, Spina bifida OMIM:616038
Fanconi Anemia, Complementation Group O
Neonatal death, Chromosome breakage OMIM:613390
Omphalocele-Cleft Palate Syndrome, Lethal
Bicornuate uterus OMIM:258320
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:277580
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Ne... OMIM:172800
Graves Disease, Susceptibility To, 1
Hyperactivity, Increased circulating free T4 concentration, Increased circulating free T3, Weight... OMIM:275000
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Classic Phenylketonuria
Hypopigmentation of hair, Eczema, Self-injurious behavior, Attention deficit hyperactivity disord... ORPHA:79254
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Non-Hodgkin lymphoma, Rhabdo... OMIM:276300
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Estrogen Resistance
Hypoplasia of the uterus, Breast aplasia, Polycystic ovaries OMIM:615363
Pemphigus Foliaceus
Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Crusting erythematous dermati... ORPHA:79481
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Fanconi Anemia, Complementation Group D1
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:605724
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Abnormal hair quantity, Obesity, Low posterior hairline, Hypogonadism, Abnormal testis morphology ORPHA:2233
Xeroderma Pigmentosum, Complementation Group F
Deficient excision of UV-induced pyrimidine dimers in DNA, Defective DNA repair after ultraviolet... OMIM:278760
Ring Chromosome 12 Syndrome
Small for gestational age, Acne, Cryptorchidism, High, narrow palate, Hirsutism, Uterine leiomyom... ORPHA:1439
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Absent pubic hair, Hypoplasia of the uterus, Hypop... OMIM:614841
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thrusting, Obesity,... ORPHA:411511
Hydrocephalus-Obesity-Hypogonadism Syndrome
Sparse facial hair, Hypergonadotropic hypogonadism, Absent facial hair, Obesity, Low posterior ha... ORPHA:2183
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Oculocutaneous Albinism Type 1
White eyelashes, White eyebrow, Blue irides, Iris transillumination defect, Generalized hypopigme... ORPHA:352731
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Diabetic Embryopathy
Hydrocephalus, Spinal dysraphism ORPHA:1926
Biotinidase Deficiency
Hepatomegaly, Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Conjunctivitis OMIM:253260
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Familial Hemophagocytic Lymphohistiocytosis
Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Jaundice, Choles... ORPHA:540
Erythroderma, Lethal Congenital
Congenital exfoliative erythroderma, Failure to thrive OMIM:227090
Chilblain Lupus
Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke... ORPHA:90280
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Inflammatory abnormality of the skin, Eczema, Cholangitis, Myelody... ORPHA:3260
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... ORPHA:91
Vascular Hyalinosis
Malabsorption, Premature graying of hair, Hematochezia, Protein-losing enteropathy, Chorioretinal... OMIM:277175
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Immunodeficiency 87 And Autoimmunity
Hepatomegaly, Atrophic gastritis, Necrotizing enterocolitis, Small for gestational age, Elevated ... OMIM:619573
Bardet-Biedl Syndrome 4
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity OMIM:615982
Pseudopelade Of Brocq
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Abno... ORPHA:129
Systemic Sclerosis
Flexion contracture, Intestinal bleeding, Gastroesophageal reflux, Abnormal small intestine morph... ORPHA:90291
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Spinal dysraphism OMIM:612918
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Estrogen Resistance Syndrome
Abnormality of the pubic hair, Enlarged polycystic ovaries, Increased circulating gonadotropin le... ORPHA:785
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Fanconi Anemia, Complementation Group B
Intrauterine growth retardation, Patent ductus arteriosus, Hydrocephalus, Abnormality of chromoso... OMIM:300514
Microphthalmia, Syndromic 12
Cryptorchidism, Bicornuate uterus OMIM:615524
Lactase Deficiency, Congenital
Lactose intolerance, Decreased small intestinal mucosa lactase level OMIM:223000
Chromosome 2Q37 Deletion Syndrome
Hyperactivity, Eczema, Highly arched eyebrow, Aggressive behavior, Hypothyroidism, Obesity, Self-... OMIM:600430
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism OMIM:617660
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Hyperactivity, Lactose intolerance, Large for gestational age, Cryptorchidism, Hypopi... ORPHA:457485
Self-Improving Dystrophic Epidermolysis Bullosa
Squamous cell carcinoma, Abnormality of skin pigmentation, Growth delay, Basal cell carcinoma, Na... ORPHA:79411
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Neoplasm, Nail dystr... ORPHA:3322
Normosmic Congenital Hypogonadotropic Hypogonadism
Wide intermamillary distance, Hypogonadotropic hypogonadism, Female hypogonadism, Non-obstructive... ORPHA:432
Vacterl With Hydrocephalus
Aqueductal stenosis, Intrauterine growth retardation, Hydrocephalus, Spina bifida ORPHA:3412
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hyperactivity, Hypopigmentation of hair, Abnormal eating behavior, Protruding tongue, Tongue thru... ORPHA:98794
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, F... OMIM:162210
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Chromosomal breakage induced by crosslinking agents OMIM:619060
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Tubulointerstitial nephritis, Colitis, Hypothyroidism, Alopecia, Psoriasiform dermatiti... ORPHA:37042
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland, Eczema, Seborrheic dermatitis, Aggressive behavior, High, narrow... ORPHA:369950
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... ORPHA:477
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Alopecia, Failure to thrive, Seborrheic dermatitis OMIM:210210
Cortisone Reductase Deficiency 2
Obesity, Premature pubarche OMIM:614662
Fanconi Anemia, Complementation Group U
Chromosome breakage, Patent ductus arteriosus OMIM:617247
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hyp... OMIM:614129
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... ORPHA:79431
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... ORPHA:3440
46,Xx Sex Reversal 1
Tall stature, True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:400045
Chromosome 17P13.1 Deletion Syndrome
Umbilical hernia, Hydrocephalus, Spina bifida OMIM:613776
Leptin Deficiency Or Dysfunction
Micropenis, Hypogonadism, Decreased testicular size, Obesity OMIM:614962
Fanconi Anemia, Complementation Group E
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of ... OMIM:600901
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Partial vaginal septum, Abnormal uterine cervix morphology ORPHA:3411
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Omodysplasia 2
Hypospadias, Cryptorchidism, Uterus didelphys, Glabellar hemangioma, Clitoral hypoplasia, Labial ... OMIM:164745
Centrifugal Lipodystrophy
Reduced subcutaneous adipose tissue, Alopecia, Inflammatory abnormality of the skin, Lipoatrophy,... ORPHA:90156
Phakomatosis Pigmentokeratotica
Spina bifida ORPHA:2874
Waardenburg Syndrome, Type 1
Myelomeningocele, Spina bifida OMIM:193500
Radial-Renal Syndrome
Chromosome breakage OMIM:179280
Acrodermatitis Enteropathica
Ridged nail, Abnormal eyebrow morphology, Alopecia, Glossitis, Anorexia, Malabsorption, Pustule, ... ORPHA:37
Hepatic Veno-Occlusive Disease
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Increased body weight ORPHA:890
Transketolase Deficiency
Hepatomegaly, Seborrheic dermatitis, Patent ductus arteriosus, Uveitis, Self-injurious behavior, ... ORPHA:488618
Gardner Syndrome
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... ORPHA:79665
Hermansky-Pudlak Syndrome
Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Abnormal dental enamel m... ORPHA:79430
Enlarged Parietal Foramina
Occipital encephalocele, Myelomeningocele ORPHA:60015
Trisomy 20P
Umbilical hernia, Spina bifida ORPHA:261318
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Mullerian Aplasia And Hyperandrogenism
Abnormal external genitalia, Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the... OMIM:158330
Denys-Drash Syndrome
True hermaphroditism, Nephroblastoma, Septate vagina, Gonadal tissue inappropriate for external g... OMIM:194080
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Astrocytoma, Thyroid adenoma OMIM:617100
Fanconi Anemia, Complementation Group A
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of ... OMIM:227650
Fanconi Anemia, Complementation Group T
Chromosomal breakage induced by crosslinking agents OMIM:616435
Cloacal Exstrophy
Myelomeningocele, Spina bifida ORPHA:93929
Ovarian Dysgenesis 7
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:618117
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Dyskeratosis Congenita
White hair, Anorectal anomaly, Hyperhidrosis, Premature graying of hair, Neoplasm, Periodontitis,... ORPHA:1775
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism OMIM:618078
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Eunuchoid habitus, Hypoplasia of penis, Small scrotum, Obesity, Hypogonadism, Sparse body hair, D... ORPHA:2234
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Atrichia, Periungual erythema, Dystrophic fingernails, Absent eyebrow, Alopecia, Subungual hyperk... OMIM:308205
Limb Body Wall Complex
Encephalocele, Spina bifida, Myelomeningocele, Hydrocephalus, Anencephaly, Abnormal spinal cord m... ORPHA:2369
Donnai-Barrow Syndrome
Widow's peak, Bicornuate uterus, Abnormality of the uterus ORPHA:2143
Fragile X Syndrome
Folate-dependent fragile site at Xq28 ORPHA:908
Perrault Syndrome 6
Hypoplasia of the uterus, Streak ovary OMIM:617565
Fanconi Anemia, Complementation Group S
Chromosome breakage OMIM:617883
Premature Ovarian Failure 6
Hypoplasia of the uterus, Streak ovary, Elevated circulating follicle stimulating hormone level, ... OMIM:612310
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Hypohidrosis, Onycholysis, Seborrheic dermatitis OMIM:104570
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Ovarian Dysgenesis 9
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619665
Mucopolysaccharidosis, Type Iiic
Hepatomegaly, Hyperactivity, Synophrys, Coarse hair, Hernia, Dysphagia, Hirsutism, Hypertrichosis OMIM:252930
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Hepatomegaly, Inguinal hernia, Superficial dermal perivascular inflammatory infiltrate, Eczema, S... ORPHA:83617
Ovarian Dysgenesis 5
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level, Elevated circu... OMIM:617690
Trisomy 18
Intrauterine growth retardation, Anencephaly, Holoprosencephaly, Spina bifida ORPHA:3380
Hatipoglu Immunodeficiency Syndrome
Anhidrosis, Inguinal hernia, Fair hair, Eczema, Hyperpigmented/hypopigmented macules, Cryptorchid... OMIM:620331
Mosaic Trisomy 9
Intrauterine growth retardation, Spina bifida ORPHA:99776
Dyskeratosis Congenita, Digenic
Alopecia, Short stature, Sparse eyelashes, Abnormality of skin pigmentation, Basal cell carcinoma... OMIM:620040
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Congenital Disorder Of Glycosylation, Type If
Failure to thrive, Flexion contracture, Erythroderma OMIM:609180
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, Abnormality of the ute... ORPHA:201
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism OMIM:603546
Premature Ovarian Failure 18
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating follicle stimulating horm... OMIM:619203
Icf Syndrome
Communicating hydrocephalus, Umbilical hernia, Abnormality of chromosome stability ORPHA:2268
Harlequin Ichthyosis
Self-injurious behavior, Erythroderma ORPHA:457
Caudal Duplication Anomaly
Uterus didelphys OMIM:607864
Gastrointestinal Stromal Tumor
Gastrointestinal hemorrhage, Intestinal obstruction, Neoplasm of the colon, Skin rash, Neoplasm o... ORPHA:44890
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Cryptorchidism, Synophrys, Increased body weight ORPHA:589905
Squalene Synthase Deficiency
Failure to thrive in infancy, Bilateral cryptorchidism, Elbow flexion contracture, Abnormality of... OMIM:618156
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Protruding tongue, Tongue thrusting, Dysphagia, Hypopigmentation of the... ORPHA:98795
Blepharocheilodontic Syndrome 1
Neural tube defect OMIM:119580
Adult Syndrome
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nail pits, Conjunctivi... OMIM:103285
Intellectual Developmental Disorder, Fra12A Type
Erythroderma OMIM:136630
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Visceral Myopathy 2
Necrotizing enterocolitis, Barrett esophagus, Intestinal obstruction, Intestinal malrotation, Int... OMIM:619350
Pagod Syndrome
Encephalocele, Meningocele, Spina bifida ORPHA:991
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Patent ductus arteriosus, Hyperhidrosis, Arthritis, High palate, Eczematoi... OMIM:259100
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Hyperactivity, Eczema, Pancreatic steatosis, Cryptorchidism, Amelogenesis... OMIM:617052
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Nail-Patella Syndrome
Spina bifida OMIM:161200
Ichthyosis, Congenital, Autosomal Recessive 9
Hypohidrosis, Erythroderma OMIM:615023
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Azoospermia, Micropenis,... OMIM:614837
Idiopathic Localized Lipodystrophy
Reduced subcutaneous adipose tissue, Inflammatory abnormality of the skin, Lipoatrophy, Pruritus,... ORPHA:90158
Griscelli Syndrome Type 2
Hepatomegaly, Hypopigmentation of hair, Partial albinism, Jaundice, Premature graying of hair, Ir... ORPHA:79477
Cronkhite-Canada Syndrome
Alopecia, Generalized hyperpigmentation, Abnormality of skin pigmentation, Hamartomatous polyposi... ORPHA:2930
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Hyperactivity, Aggressive behavior, Synophrys, Coarse hair, Hirsutism OMIM:252920
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities
Hyperactivity, Hypermelanotic macule, Cryptorchidism, Hypoplastic nipples, Hemangioma, Cafe-au-la... OMIM:618505
Ichthyosis, Congenital, Autosomal Recessive 7
Erythroderma OMIM:615022
22Q11.2 Deletion Syndrome
Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Chronic otitis media, Hypot... ORPHA:567
Neu-Laxova Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2671
Premature Ovarian Failure 13
Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone level OMIM:617442
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Weight loss, Infertility, Erect... ORPHA:465508
Fanconi Anemia, Complementation Group C
Small for gestational age, Hypergonadotropic hypogonadism, Cryptorchidism, Prolonged G2 phase of ... OMIM:227645
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Congenital Disorder Of Glycosylation, Type Ih
Hepatomegaly, Cryptorchidism, Patent ductus arteriosus, Cholestasis, Protein-losing enteropathy, ... OMIM:608104
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Premature Ovarian Failure 3
Hypoplasia of the uterus OMIM:608996
Erythrokeratodermia Variabilis Et Progressiva 1
Erythroderma OMIM:133200
Fibular Hemimelia
Spina bifida ORPHA:93323
Mucopolysaccharidosis, Type Iiia
Hepatomegaly, Hyperactivity, Inguinal hernia, Synophrys, Coarse hair, Umbilical hernia, Hirsutism OMIM:252900
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Curly hair, Sparse scalp hair, Hyperactivity, Inguinal hernia, Eczema, Large for gestational age,... OMIM:607721
Satoyoshi Syndrome
Hypoplasia of the uterus, Alopecia, Alopecia universalis OMIM:600705
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Epidermolytic Hyperkeratosis 1
Erythroderma OMIM:113800
Cowden Syndrome 1
Subcutaneous lipoma, Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hydrocele testis, O... OMIM:158350
Neurocutaneous Melanocytosis
Meningocele, Syringomyelia ORPHA:2481
Ichthyosis, Congenital, Autosomal Recessive 10
Erythroderma OMIM:615024
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Multinodular goiter, Squamous cell carcinoma, Hypomelanotic macu... OMIM:618373
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Epidermolytic Hyperkeratosis 2
Erythroderma OMIM:620150
Ulnar Hemimelia
Spinal dysraphism ORPHA:93320
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Hypoplasia of penis, Cryptorchidism, Obesity, Hypoplasia of the ov... ORPHA:110
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Increased body weight, Low posterior hairline, Nail dystrophy, Mi... OMIM:300860
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome
Supernumerary nipple, Bifid uterus, Sparse eyebrow, Abnormal reproductive system morphology, Apla... ORPHA:1521
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Periportal fibrosis, Bicornuate uterus OMIM:263210
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Hirsutism, Polycystic ovaries ORPHA:2795
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Insensitivity To Pain, Congenital, With Anhidrosis
Sparse scalp hair, Hyperactivity, Osteomyelitis, Anhidrosis, Keratitis, Corneal scarring, Nail dy... OMIM:256800
Bloom Syndrome
Neoplasm, Neoplasm of the breast, Hypopigmentation of the skin, Male infertility, Premature ovari... ORPHA:125
Vaginal Atresia
Cervicitis, Vaginal hematocele, Transverse vaginal septum, Uterus didelphys, Bicornuate uterus, A... ORPHA:65681
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Short stature OMIM:251270
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Impulsivity, Cryptorchidism, Flexion contracture, Polyphagia, Increased... ORPHA:398069
Ichthyosis, Congenital, Autosomal Recessive 6
Hypohidrosis, Erythroderma OMIM:612281
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Hypospadias, Hypergonadotropic hypogonadism, Elevated circulating lutei... ORPHA:90796
Fanconi Anemia, Complementation Group N
Postnatal growth retardation, Medulloblastoma, Neuroblastoma, Nephroblastoma, Cafe-au-lait spot OMIM:610832
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Azoospermia, Bicornuate uterus OMIM:601076
X-Linked Intellectual Disability, Cabezas Type
Hyperactivity, Inguinal hernia, Camptodactyly of finger, Abnormal hair pattern, Cachexia, Aggress... ORPHA:85293
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Hypoplasia of penis, Uterus didelphys ORPHA:2491
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Cryptorchidism, Polyphagia, Obesity, Xerostomia, Central hypothyroidism... ORPHA:398079
Whim Syndrome
Abnormal small intestine morphology, Sinusitis, Severe periodontitis, Pneumonia, Lymphadenitis, R... ORPHA:51636
Oculoskeletodental Syndrome
Hepatomegaly, Small for gestational age, Cryptorchidism, Low anterior hairline, Elbow flexion con... OMIM:618440
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:98793
Basal Cell Nevus Syndrome 1
Hydrocephalus, Spina bifida OMIM:109400
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2
Hyperhidrosis, Acne, Seborrheic dermatitis OMIM:614441
Hypomelia With Mullerian Duct Anomalies
Uterus didelphys, Longitudinal vaginal septum OMIM:146160
Glucagonoma
Anorexia, Hepatomegaly, Intermittent jaundice, Increased circulating cortisol level, Adrenocortic... ORPHA:97280
Eosinophilic Gastroenteritis
Abnormality of the gastrointestinal tract, Allergic rhinitis, Malabsorption, Atopic dermatitis, S... ORPHA:2070
Tatton-Brown-Rahman Syndrome
Cryptorchidism, Obesity, Proportionate tall stature, Myeloid leukemia, Neuroendocrine neoplasm, T... ORPHA:404443
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:177904
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Immunodeficiency 25
Recurrent pneumonia, Erythroderma OMIM:610163
Split Cord Malformation
Tethered cord, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Meningocele, Hydroc... ORPHA:573278
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Anal atresia, Hepatic cysts, Erythroderma OMIM:617425
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hepatomegaly, Aganglionic megacolon, Ileus... ORPHA:163746
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:177901
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Small scrotum, Hypospadias, Hypoplastic labia minora, Splenopancreatic f... OMIM:269150
Triploidy
Intrauterine growth retardation, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Focal Dermal Hypoplasia
Umbilical hernia, Spina bifida ORPHA:2092
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Sparse scalp hair, Short stature, Sparse eyelashes, Sparse eyebrow, Cryptorchidism, Abnormality o... ORPHA:75496
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Small for gestational age, Decreased response to growth hormone stimula... ORPHA:98754
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormal dental enamel morphology, Abnormality of hair texture, Cryptor... ORPHA:96169
Neurofibromatosis, Type I
Aqueductal stenosis, Hydrocephalus, Spina bifida OMIM:162200
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cryptorchidism, Hypogonadism, External genital hypoplasia, Obesity ORPHA:363741
Majeed Syndrome
Hepatomegaly, Inflammatory abnormality of the skin, Osteomyelitis, Acne, Cachexia, Malabsorption,... ORPHA:77297
Insulinoma
Primary hyperparathyroidism, Increased body weight, Neoplasm of the adrenal gland, Pituitary prol... ORPHA:97279
Insulin-Resistance Syndrome Type B
Enlarged ovaries, Alopecia, Abnormality of body weight, Enlarged polycystic ovaries, Lymphoma, In... ORPHA:2298
Xeroderma Pigmentosum, Complementation Group E
Defective DNA repair after ultraviolet radiation damage OMIM:278740
Fanconi Anemia, Complementation Group R
Hydrocephalus, Chromosomal breakage induced by crosslinking agents OMIM:617244
Agammaglobulinemia 9, Autosomal Recessive
Failure to thrive, Eczematoid dermatitis, Seborrheic dermatitis OMIM:619693
Hallermann-Streiff Syndrome
Spina bifida OMIM:234100
Renal And Mullerian Duct Hypoplasia
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus OMIM:266810
Bardet-Biedl Syndrome 1
Biliary tract abnormality, Abnormality of the ovary, Obesity, Truncal obesity, Abdominal obesity,... OMIM:209900
Fanconi Anemia, Complementation Group I
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:609053
Candidiasis, Familial, 8
Seborrheic dermatitis, Cheilitis, Macroglossia, Chronic oral candidiasis, Blepharitis OMIM:615527
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Micropenis, Decreased testicular size OMIM:610628
Fanconi Anemia, Complementation Group V
Chromosomal breakage induced by crosslinking agents OMIM:617243
Muenke Syndrome
High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Prader-Willi Syndrome
Hypopigmentation of the skin, Hypopigmentation of hair, Decreased response to growth hormone stim... ORPHA:739
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hepatomegaly, Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypogonadotropic hypogonadism, Reduced circulating prolactin concentration, Obesity, Hypoplasia o... ORPHA:2235
Spinocerebellar Ataxia 34
Erythroderma OMIM:133190
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy, Squamous cell carcinoma of the tongue OMIM:613988
Erythroderma Desquamativum
Failure to thrive, Seborrheic dermatitis ORPHA:314
Peutz-Jeghers Syndrome
Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma... OMIM:175200
Coffin-Siris Syndrome
Sparse scalp hair, Thick eyebrow, Hypoplastic fifth toenail, Hyperactivity, Aggressive behavior, ... ORPHA:1465
Fanconi Anemia, Complementation Group D2
Hypergonadotropic hypogonadism, Small for gestational age, Cryptorchidism, Annular pancreas, Prol... OMIM:227646
Mpi-Cdg
Gastrointestinal hemorrhage, Hepatomegaly, Portal hypertension, Hepatic fibrosis, Decreased liver... ORPHA:79319
Fanconi Anemia, Complementation Group F
Intrauterine growth retardation, Patent ductus arteriosus, Chromosomal breakage induced by crossl... OMIM:603467
Digeorge Syndrome
High, narrow palate, Parathyroid hypoplasia, Hypoplasia of the thymus, High palate, Gastroesophag... OMIM:188400
Fanconi Anemia, Complementation Group Q
Chromosome breakage OMIM:615272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hepatomegaly, Hip contracture, Large for gestational age, Seborrheic dermatitis, Microvesicular h... OMIM:300868
Fanconi Anemia, Complementation Group L
Intrauterine growth retardation, Hydrocephalus, Chromosome breakage, Chromosomal breakage induced... OMIM:614083
Familial Adenomatous Polyposis 1
Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor... OMIM:175100
Isolated Biliary Atresia
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Pruritus, Atretic gallbla... ORPHA:30391
Adrenocortical Carcinoma
Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Increased body weight, Weight l... ORPHA:1501
Luscan-Lumish Syndrome
Obesity, Polycystic ovaries, Overgrowth, High anterior hairline, Hirsutism OMIM:616831
Lig4 Syndrome
Abnormality of chromosome stability ORPHA:99812
Hemihyperplasia-Multiple Lipomatosis Syndrome
Lipoatrophy, Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian s... ORPHA:276280
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Sparse hair, Sparse body hair ORPHA:1810
Ectodermal Dysplasia-Skin Fragility Syndrome
Chapped lip, Recurrent skin infections, Scarring, Pruritus, Abnormal tongue morphology, Recurrent... ORPHA:158668
Autosomal Recessive Spondylocostal Dysostosis
Umbilical hernia, Meningocele, Spina bifida occulta, Intrauterine growth retardation ORPHA:2311
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Folate-dependent fragile site at Xq28 ORPHA:85327
Prader-Willi Syndrome Due To Translocation
Hypopigmentation of hair, Anterior pituitary hypoplasia, Decreased response to growth hormone sti... ORPHA:177907
Agammaglobulinemia 4, Autosomal Recessive
Recurrent otitis media, Recurrent pneumonia, Chronic sinusitis, Protein-losing enteropathy OMIM:613502
Low Phospholipid-Associated Cholelithiasis
Elevated hepatic transaminase, Liver abscess, Cholangitis, Overweight, Intrahepatic cholestasis, ... ORPHA:69663
Renal Hypodysplasia/Aplasia 3
Abnormality of the uterus OMIM:617805
Congenital Short Bowel Syndrome
Abnormal peristalsis, Intestinal malrotation, Decreased intestinal transit time, Steatorrhea, Con... OMIM:615237
Bardet-Biedl Syndrome 6
Vaginal atresia, Hypospadias, External genital hypoplasia, Obesity OMIM:605231
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Macrocephaly/Autism Syndrome
Hepatomegaly, Penile freckling, Large for gestational age, Obesity, Hydrocele testis, Coarse hair... OMIM:605309
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Hepatic steatosis, Alopecia, Pituitary adenoma, Primary hyperparathyroidism, Hirsutism, Increased... ORPHA:189427
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cryptorchidism, Hypogonadism, Obesity OMIM:601794
Darier Disease
Abnormality of skin pigmentation, Abnormal hair morphology, Hypermelanotic macule ORPHA:218
Limb-Mammary Syndrome
Alopecia, Absent nipple, Sparse eyebrow, Bilateral breast hypoplasia, Breast aplasia, Hypoplastic... ORPHA:69085
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ... ORPHA:3214
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Dyskeratosis Congenita, Autosomal Recessive 8
Intrauterine growth retardation, Chromosomal breakage induced by crosslinking agents OMIM:620133
Hennekam Lymphangiectasia-Lymphedema Syndrome 3
Hydrocele testis, Synophrys, Protein-losing enteropathy OMIM:618154
Inflammatory Bowel Disease (Crohn Disease) 30
Gastritis, Duodenitis, Pancolitis, Abnormal intestine morphology, Protein-losing enteropathy, Eso... OMIM:619079
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Tethered cord, Spina bifida OMIM:619480
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Pheochromocytoma,... ORPHA:805
Neu-Laxova Syndrome 1
Spina bifida, Stillbirth, Short umbilical cord, Small placenta, Neonatal death, Hydranencephaly, ... OMIM:256520
Distal Deletion 12Q
Late onset atopic dermatitis, Hyperactivity, Failure to thrive in infancy, Unilateral cryptorchid... ORPHA:96149
Joubert Syndrome 14
Encephalocele, Hydrocephalus, Meningocele OMIM:614424
46,Xx Sex Reversal 2
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... OMIM:278850
Bloom Syndrome
Intrauterine growth retardation, Abnormality of chromosome stability, Chromosome breakage OMIM:210900
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Wilson Disease
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Increased body weig... ORPHA:905
Prader-Willi Syndrome
Hypopigmentation of hair, Failure to thrive in infancy, Decreased response to growth hormone stim... OMIM:176270
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Multiple pancreatic beta-cell adenomas, Elevated circulating growth hormone concentration, Large ... ORPHA:79644
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage OMIM:278720
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Meningocele ORPHA:2031
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Hyperhidrosis, Acne, Seborrheic dermatitis OMIM:167100
Jacobsen Syndrome
Intrauterine growth retardation, Spina bifida ORPHA:2308
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Spina bifida ORPHA:508498
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammat... ORPHA:39812
Menkes Disease
Gastrointestinal hemorrhage, Hypopigmentation of hair, Osteomyelitis, Inguinal hernia, Malabsorpt... ORPHA:565
Aicardi Syndrome
Spina bifida OMIM:304050
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Widow's peak, Hydrocele testis, Bicornuate uterus, Shawl scrotum OMIM:145420
Brittle Cornea Syndrome 1
Red hair, Dentinogenesis imperfecta, Atypical scarring of skin OMIM:229200
Dyskeratosis Congenita, Autosomal Recessive 6
Alopecia, Abnormality of skin pigmentation, Nail dystrophy, Sparse hair, Intrauterine growth reta... OMIM:616353
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Sparse eyebrow OMIM:225050
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypoplasia of the uterus, Hypogonadotropic hypogonadism OMIM:614842
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight, Goiter OMIM:274300
Neonatal Inflammatory Skin And Bowel Disease
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Anal fissure, Pustule,... ORPHA:294023
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Elevated hepatic transaminase, Absent vas deferens, Hypospadias, Jaundice, Aplasia/Hypoplasia of ... ORPHA:93111
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Spina bifida OMIM:274000
Legius Syndrome
Inguinal freckling, Hyperactivity, Acute monocytic leukemia, Non-small cell lung carcinoma, Axill... ORPHA:137605
Chediak-Higashi Syndrome
Hepatomegaly, Recurrent bacterial skin infections, Hypopigmentation of hair, Silver-gray hair, Ja... OMIM:214500
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Spina bifida, Patent urachus, Intrauterine growth retarda... OMIM:192350
Dyrk1A-Related Intellectual Disability Syndrome
Hyperactivity, Multiple joint contractures, Small for gestational age, Eczema, Anterior pituitary... ORPHA:464306
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Wagro Syndrome
Multiple exostoses, Hypoplastic female external genitalia, Obesity, Nephroblastoma, Decreased tes... OMIM:612469
Ichthyosis, Congenital, Autosomal Recessive 5
Erythroderma OMIM:604777
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hyperactivity, Cryptorchidism, Rectal prolapse, Narrow palate, Protein-losing enteropathy, Campto... OMIM:235510
Familial Pancreatic Carcinoma
Elevated hepatic transaminase, Pancreatic adenocarcinoma, Intestinal pseudo-obstruction, Function... ORPHA:1333
Koolen-De Vries Syndrome Due To A Point Mutation
Hydrocephalus, Spina bifida, Dural ectasia ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hydrocephalus, Spina bifida, Dural ectasia ORPHA:363958
Campomelic Dysplasia
Hydrocephalus, Spina bifida, Spinal dysraphism OMIM:114290
Monosomy 9Q22.3
Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma, Large for gestational age,... ORPHA:77301
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Hepatomegaly, Limb joint contracture, Seborrheic dermatitis, Micronodular cirrhosis, Flexion cont... OMIM:301072
Congenital Disorder Of Glycosylation, Type Im
Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebrow, Failure to thrive OMIM:610768
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Cholestasis, Polycystic ovari... ORPHA:264580
Holoprosencephaly
Encephalocele, Hydrocephalus, Spinal cord tumor, Spinal dysraphism, Branchial anomaly, Holoprosen... ORPHA:2162
Fanconi Anemia
Umbilical hernia, Hydrocephalus, Spina bifida, Intrauterine growth retardation ORPHA:84
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Cleft palate, High pa... OMIM:235255
Prune Belly Syndrome
Cryptorchidism, Abnormality of the uterus, Failure to thrive, Decreased testicular size, Urogenit... ORPHA:2970
Lateral Meningocele Syndrome
Tethered cord, Hydrocephalus, Meningocele, Dural ectasia, Syringomyelia, Umbilical hernia OMIM:130720
Cartilage-Hair Hypoplasia
Abnormality of chromosome stability, Spinal dysraphism ORPHA:175
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Sparse scalp hair, Decreased response to growth hormone stimulation test, Highly arched eyebrow, ... OMIM:615866
Juvenile Polyposis Of Infancy
Gastrointestinal hemorrhage, Cachexia, High, narrow palate, Patent ductus arteriosus, Rectal prol... ORPHA:79076
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Weight loss, Hypogonadism, Abnorma... ORPHA:85450
Myoectodermal Gonadal Dysgenesis Syndrome
Small for gestational age, Elevated circulating luteinizing hormone level, Highly arched eyebrow,... OMIM:618419
Letterer-Siwe Disease
Stomatitis, Hepatosplenomegaly, Jaundice, Seborrheic dermatitis OMIM:246400
Renal Hypodysplasia/Aplasia 1
Bicornuate uterus, Vaginal atresia OMIM:191830
Lateral Meningocele Syndrome
Umbilical hernia, Meningocele, Syringomyelia, Dural ectasia ORPHA:2789
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Increased body weight ORPHA:276608
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele ORPHA:1827
Pigmented Nodular Adrenocortical Disease, Primary, 4
Alopecia, Adrenal hyperplasia, Increased body weight, Hirsutism OMIM:615830
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Cryptorchidism, Blue irides, Hypopigmented... OMIM:613266
Seckel Syndrome 7
Hypoplasia of the uterus OMIM:614851
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Aplasia of the uterus OMIM:146255
Xeroderma Pigmentosum, Complementation Group A
Defective DNA repair after ultraviolet radiation damage OMIM:278700
Ulnar-Mammary Syndrome
Hypoplasia of penis, Cryptorchidism, Obesity, Breast aplasia, Hypoplastic nipples, Abnormality of... ORPHA:3138
46,Xy Sex Reversal 4
Hypergonadotropic hypogonadism, Agonadism, Sex reversal, Hypoplasia of the uterus, Gonadal dysgen... OMIM:154230
Juvenile Polyposis Syndrome
Small intestinal polyposis, Juvenile gastrointestinal polyposis, Hamartomatous polyposis, Multipl... ORPHA:2929
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Low anterior hairline, Premature graying of hair, Abnormali... OMIM:619488
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperactivity, Hyperthyroidism, Small for gestational age, Thyrotoxicosis with diffuse goiter, Ac... ORPHA:424
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Hepatomegaly, Increased body weight, Hepatocellular adenoma, Polyc... ORPHA:79240
Xeroderma Pigmentosum, Complementation Group D
Defective DNA repair after ultraviolet radiation damage OMIM:278730
Complement Component 5 Deficiency
Generalized seborrheic dermatitis OMIM:609536
Brittle Cornea Syndrome
Abnormality of hair pigmentation, Corneal scarring, Cleft palate, Hernia, Camptodactyly ORPHA:90354
Fanconi Anemia, Complementation Group P
Chromosomal breakage induced by crosslinking agents OMIM:613951
Revesz Syndrome
Intrauterine growth retardation, Abnormality of chromosome stability OMIM:268130
Currarino Syndrome
Bicornuate uterus, Rectovaginal fistula, Presacral teratoma, Septate vagina OMIM:176450
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus... OMIM:300048
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Inguinal hernia, Cryptorchidism, Pancreatic lymphangiectasis, Hepatosplenomegaly, H... ORPHA:1655
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Hamartoma of tongue, Septate vagina, Uterus didelphys, Low posterior hairline... OMIM:617925
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Hypoplasia of the vagina, Clitoral hypertrophy, Ambiguous genitalia, female, Long penis, Hypoplas... OMIM:202010
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Macronodular adrenal hyperplasia, Increased body weight OMIM:615954
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:168558
Scedosporiosis
Unusual skin infection, Pericarditis, Arthralgia/arthritis, Sinusitis, Pneumonia, Osteomyelitis, ... ORPHA:449280
Smith-Magenis Syndrome
Synophrys, Increased body weight OMIM:182290
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hypoplasia of the uterus, Aplasia of the vagina OMIM:277000
Rubinstein-Taybi Syndrome 1
Spina bifida occulta, Spina bifida OMIM:180849
Ehlers-Danlos Syndrome, Classic-Like
Ambiguous genitalia, female, Bicornuate uterus OMIM:606408
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Female external genitalia in individual with 46,X... ORPHA:289548
Seborrhea-Like Dermatitis With Psoriasiform Elements
Seborrheic dermatitis OMIM:610227
Vici Syndrome
Hypopigmentation of hair, Albinism, Ocular albinism, Chronic mucocutaneous candidiasis, Cleft pal... OMIM:242840
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Abnormality of male external genitalia, Adrenal hyperplasia, Abnormal externa... ORPHA:95699
Nijmegen Breakage Syndrome
Hyperactivity, Sinusitis, Glioma, Anal stenosis, Rhabdomyosarcoma, Retinal pigment epithelial mot... OMIM:251260
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Sparse axillary hair, ... OMIM:181450
Xfe Progeroid Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:610965
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Neoplasm, Gastroesophageal reflux, Otitis media, Compulsive behaviors, Abnormal repetitive manner... ORPHA:353281
Microcephaly 20, Primary, Autosomal Recessive
Hypoplasia of the uterus, Vaginal atresia OMIM:617914
Matthew-Wood Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Abnormality of the uterus, Annular pancreas, ... ORPHA:2470
Sotos Syndrome
Sparse eyebrow, Cryptorchidism, Increased body weight, Overgrowth, Prolonged neonatal jaundice, H... OMIM:117550
Meckel Syndrome 12
Hypoplasia of the uterus, Vaginal atresia OMIM:616258
Hand-Foot-Genital Syndrome
Bicornuate uterus, Hypospadias, Abnormality of the uterus ORPHA:2438
Familial Gestational Hyperthyroidism
Hyperactivity, Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulatin... ORPHA:99819
Chédiak-Higashi Syndrome
Elevated hepatic transaminase, Recurrent bacterial skin infections, Hypopigmentation of hair, Abn... ORPHA:167
Chromosome 17Q12 Deletion Syndrome
Elevated hepatic transaminase, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Ovarian cys... OMIM:614527
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Large for gestational age, Increased body weight, In... ORPHA:263455
Nijmegen Breakage Syndrome
Abnormality of chromosome stability, Abnormality of neuronal migration ORPHA:647
Malakoplakia
Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation... ORPHA:556
Woodhouse-Sakati Syndrome
Alopecia, Hypergonadotropic hypogonadism, Hypogonadotropic hypogonadism, Hypoplasia of the fallop... OMIM:241080
Blepharophimosis, Ptosis, And Epicanthus Inversus
Hypoplasia of the uterus, Increased circulating gonadotropin level, Highly arched eyebrow, Sparse... OMIM:110100
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida ORPHA:322
Otopalatodigital Syndrome, Type Ii
Umbilical hernia, Hydrocephalus, Stillbirth, Spina bifida OMIM:304120
Autosomal Recessive Polycystic Kidney Disease
Gastrointestinal hemorrhage, Cholangiocarcinoma, Cholangitis, Portal hypertension, Biliary hyperp... ORPHA:731
Cystinosis, Nephropathic
Hepatomegaly, Hypopigmentation of hair, Failure to thrive in infancy, Oral-pharyngeal dysphagia, ... OMIM:219800
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Endometriosis OMIM:613680
Townes-Brocks Syndrome 2
Rectovaginal fistula, Hypospadias, Bifid uterus OMIM:617466
Craniolenticulosutural Dysplasia
Brittle hair, Short stature, Abnormality of skin pigmentation, Coarse hair, Capillary hemangioma,... ORPHA:50814
Hand-Foot-Genital Syndrome
Bifid scrotum, Hypospadias, Uterus didelphys, Chordee, Longitudinal vaginal septum, Micropenis OMIM:140000
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, Aplasia of the uter... ORPHA:2237
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Short stature, Hypospadias, Postnatal growth retardation, ... ORPHA:235
Acrorenal-Mandibular Syndrome
Unicornuate uterus, Bicornuate uterus, Uterus didelphys, Absent nipple OMIM:200980
Acromesomelic Dysplasia 3
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Elevated circulating follicle stimulati... OMIM:609441
Blue Diaper Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:94086
Congenital Enterocyte Heparan Sulfate Deficiency
Hematochezia, Protein-losing enteropathy, Weight loss ORPHA:103910
Hereditary Sensory And Autonomic Neuropathy Type 4
Nail-biting, Fasciitis, Osteomyelitis, Hyperactivity, Anhidrosis, Impulsivity, Corneal scarring, ... ORPHA:642
Liver Disease, Severe Congenital
Chronic gastritis, Dry hair, Biliary hyperplasia, Protein-losing enteropathy, Elevated hepatic ir... OMIM:619991
Oeis Complex
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... OMIM:258040
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations
Small for gestational age, Septate vagina, Bicornuate uterus, Rectovaginal fistula, Labial hypopl... OMIM:300707
Acro-Renal-Mandibular Syndrome
Bicornuate uterus, Uterus didelphys ORPHA:958
Incontinentia Pigmenti
Alopecia, Short stature, Supernumerary nipple, Fine hair, Abnormality of skin pigmentation, Coars... OMIM:308300
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
Smith-Lemli-Opitz Syndrome
Hypopigmentation of hair, Aganglionic megacolon, Abnormal dental enamel morphology, Congenital di... ORPHA:818
Perlman Syndrome
Renal hamartoma, Large for gestational age, Cryptorchidism, Nephroblastomatosis, Nephroblastoma OMIM:267000
Mosaic Variegated Aneuploidy Syndrome
Short stature, Vaginal neoplasm, Myelodysplasia, Rhabdomyosarcoma, Multiple cafe-au-lait spots, A... ORPHA:1052
Adrenomyeloneuropathy
Frontal balding, Fine hair, Abnormality of skin pigmentation, Adrenocorticotropic hormone excess,... ORPHA:139399
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Short stature, Sparse hair, Fine hair ORPHA:1806
Tarp Syndrome
Abnormal hair pattern, Cryptorchidism, Cleft palate, Tongue nodules, Glossoptosis, Abnormal duode... ORPHA:2886
Woodhouse-Sakati Syndrome
Alopecia, Streak ovary, Hypoplasia of the fallopian tube, Decreased response to growth hormone st... ORPHA:3464
De Sanctis-Cacchione Syndrome
Defective DNA repair after ultraviolet radiation damage OMIM:278800
Duplication Of Urethra
Bifid scrotum, Hypospadias, Septate vagina, Epispadias, Coronal hypospadias, Uterus didelphys, Ch... ORPHA:237
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Hypoplasia of the uterus,... OMIM:119500
Cushing Syndrome Due To Ectopic Acth Secretion
Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary c... ORPHA:99889
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Absent external genitalia, Bilater... OMIM:263650
Bardet-Biedl Syndrome 12
Hypogonadism, Hydrometrocolpos, Vaginal atresia, Obesity OMIM:615989
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Hepatitis, Obesity, Cholestasis, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... ORPHA:209902
Curry-Jones Syndrome
Occipital meningocele, Lipomyelomeningocele OMIM:601707
Microsporidiosis
Cholangitis, Cachexia, Abnormality of the parathyroid gland, Biliary tract abnormality, Abnormal ... ORPHA:2552
Pseudotrisomy 13 Syndrome
Cryptorchidism, Micropenis, Bicornuate uterus OMIM:264480
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Inguinal hernia, Cryptorchidism, Ocular albinism, Iris hypopigmentation ORPHA:2719
Renal Cysts And Diabetes Syndrome
Elevated hepatic transaminase, Hypospadias, Biliary tract abnormality, Hypoplasia of the uterus, ... OMIM:137920
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Tall stature, Abnormal external genitalia, Hypogonadotropic hypogonadism, Pre... ORPHA:90794
Donnai-Barrow Syndrome
Bicornuate uterus OMIM:222448
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate ORPHA:1974
Familial Cutaneous Collagenoma
Abnormality of skin pigmentation ORPHA:53296
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Occipital meningocele, Hydrocephalus, Anencephaly OMIM:616546
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uterus ORPHA:2736
Opitz Gbbb Syndrome
Bifid scrotum, Enlarged ovaries, Hypospadias, Cryptorchidism, Widow's peak, Bicornuate uterus, Sh... ORPHA:2745
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Lathosterolosis
Intrauterine growth retardation, Meningocele ORPHA:46059
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Hepatomegaly, Small scrotum, Hypospadias, Septate vagina, Facial capillary hemangi... OMIM:270400
Fryns Syndrome
Cryptorchidism, Bicornuate uterus, Hypospadias ORPHA:2059
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Fryns Syndrome
Bifid scrotum, Ectopic pancreatic tissue, Hypospadias, Large for gestational age, Cryptorchidism,... OMIM:229850
Microphthalmia, Syndromic 9
Hypoplasia of the uterus, Cryptorchidism, Bicornuate uterus OMIM:601186
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Riddle Syndrome
Chromosomal breakage induced by ionizing radiation ORPHA:420741
Metachromatic Leukodystrophy
Abnormal stomach morphology, Abnormal gallbladder morphology, Hemobilia, Neoplasm of the gallblad... ORPHA:512
Turner Syndrome Due To Structural X Chromosome Anomalies
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Increased circulating gona... ORPHA:99413
Mosaic Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Increased circulating gona... ORPHA:99228
Monosomy X
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Increased circulating gona... ORPHA:99226
Turner Syndrome
Elevated hepatic transaminase, Alopecia, Failure to thrive in infancy, Increased circulating gona... ORPHA:881
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Micropenis, Hypospadias, High anterior hairline, Endometriosis ORPHA:363444
Ablepharon Macrostomia Syndrome
Absent eyebrow, Hypoplasia of penis, Abnormal hair pattern, Absent eyelashes, Fine hair, Growth d... ORPHA:920
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Meningocele ORPHA:397715
Meningioma
Hydrocephalus, Chromosomal breakage induced by ionizing radiation ORPHA:2495
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Hig... ORPHA:572333
Ring Chromosome 7 Syndrome
Hypospadias, Short stature, Highly arched eyebrow, Low anterior hairline, Hydrocele testis, Abnor... ORPHA:1449
Beckwith-Wiedemann Syndrome
Hepatomegaly, Nephroblastoma, Rhabdomyosarcoma, Large for gestational age, Cryptorchidism, Adreno... ORPHA:116
Ring Chromosome 13 Syndrome
Bifid scrotum, Alopecia, Hypoplasia of the gallbladder, Hypospadias, Abnormality of skin pigmenta... ORPHA:96176
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Meningocele ORPHA:1010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Intrauterine growth retardation, Large placenta, Spinal dysraphism ORPHA:96334
Phocomelia, Schinzel Type
Intrauterine growth retardation, Meningocele ORPHA:2879
Igg4-Related Kidney Disease
Pericarditis, Inflammatory abnormality of the skin, Lymphadenitis, Urinary bladder inflammation, ... ORPHA:449395
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Proteus Syndrome
Central heterochromia, Neoplasm of the thymus, Abnormality of skin pigmentation, Neoplasm of the ... ORPHA:744
Norrie Disease
Cachexia, Cryptorchidism, Uterine rupture, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Noonan Syndrome 1
Male infertility, Juvenile myelomonocytic leukemia, Hypospadias, Short stature, Postnatal growth ... OMIM:163950
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Linear Skin Defects With Multiple Congenital Anomalies 1
Hypospadias, Ovotestis, Hypoplasia of the uterus, Chordee, Micropenis, Clitoral hypertrophy OMIM:309801
Meacham Syndrome
Male pseudohermaphroditism, Blind vagina, Bicornuate uterus, Septate vagina OMIM:608978
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Holoprosencephaly, Occipital me... OMIM:610828
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Bicornuate uterus, Labial hypoplasia ORPHA:140952
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Abnormal hair whorl, Aplasia of the vagina, Aplasia of the uterus ORPHA:457284
Microphthalmia With Linear Skin Defects Syndrome
Abnormal penis morphology, Abnormality of retinal pigmentation, Severe short stature, Hypospadias... ORPHA:2556
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Hypospadias, Abnormal hair pattern, Cryptorchidism, Bicornuat... ORPHA:2052
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Small scrotum, Hypospadias, Small for gestational age, Cryptor... OMIM:201750
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Pontocerebellar Hypoplasia Type 7
Abnormal scrotal rugation, Cryptorchidism, Gonadal dysgenesis, Microphallus, Absent penis, Aplasi... ORPHA:284339
Fraser Syndrome 1
Absent eyebrow, Hypospadias, Absent eyelashes, Cryptorchidism, Extension of hair growth on temple... OMIM:219000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Micropenis, Thoracic hypertrich... OMIM:619503
Cushing Disease
Sparse scalp hair, Adrenal hyperplasia, Pituitary corticotropic cell adenoma, Increased body weig... ORPHA:96253
Lymphangioleiomyomatosis
Renal neoplasm, Retinal hamartoma, Renal angiomyolipoma, Abnormality of skin pigmentation, Ungual... ORPHA:538
Acrofacial Dysostosis, Rodríguez Type
Abnormality of the uterus ORPHA:1788
Orofaciodigital Syndrome Vi
Occipital meningocele OMIM:277170
Mayer-Rokitansky-Küster-Hauser Syndrome
Hypoplasia of the vagina, Aplasia of the uterus ORPHA:3109
Okamoto Syndrome
Facial hypertrichosis, Extension of hair growth on temples to lateral eyebrow, Hypertrichosis, Bi... ORPHA:2729
Ehlers-Danlos Syndrome, Vascular Type
Cryptorchidism, Cystocele, Cervical insufficiency, Uterine rupture, Uterine prolapse, Alopecia of... OMIM:130050
Acrofacial Dysostosis 1, Nager Type
Bicornuate uterus, Sparse lower eyelashes, Absent lower eyelashes OMIM:154400
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Hypoplastic nipples, ... OMIM:276820
Loeys-Dietz Syndrome
Tall stature, Uterine rupture ORPHA:60030
Roberts-Sc Phocomelia Syndrome
Hypospadias, Enlarged labia minora, Cryptorchidism, Long penis, Cavernous hemangioma of the face,... OMIM:268300
Hydrolethalus Syndrome 1
Abnormal vagina morphology, Hypospadias, Adrenal gland dysgenesis, Bifid uterus OMIM:236680
Cornelia De Lange Syndrome
Hypoplasia of penis, Hypospadias, Curly eyelashes, Highly arched eyebrow, Cryptorchidism, Synophr... ORPHA:199
Knobloch Syndrome 1
Occipital meningocele, Occipital encephalocele, Spina bifida occulta OMIM:267750
Townes-Brocks Syndrome 1
Bifid scrotum, Rectoperineal fistula, Hypospadias, Small for gestational age, Bifid uterus, Crypt... OMIM:107480
Peters-Plus Syndrome
Hypoplasia of the vagina, Hypospadias, Bilobate gallbladder, Cryptorchidism, Biliary tract abnorm... OMIM:261540
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia OMIM:271520
Arima Syndrome
Occipital meningocele OMIM:243910
Marfan Syndrome
Meningocele, Dural ectasia ORPHA:558
Cystic Fibrosis
Male infertility, Failure to thrive OMIM:219700
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Annular pancreas, Bicornuate uterus, Hypospadias OMIM:265380
Lacrimoauriculodentodigital Syndrome
Cryptorchidism, Abnormal salivary gland morphology, Bicornuate uterus, Lacrimal gland aplasia ORPHA:2363
Cholangiocarcinoma
Anorexia, Pruritus, Biliary tract neoplasm, Jaundice, Acholic stools ORPHA:70567
Cardiac-Urogenital Syndrome
Bifid scrotum, Unilateral cryptorchidism, Cryptorchidism, Aplasia of the uterus, Ambiguous genita... OMIM:618280
Hellp Syndrome
Elevated hepatic transaminase, Increased body weight ORPHA:244242
Vascular Ehlers-Danlos Syndrome
Alopecia, Hypospadias, Abnormality of hair texture, Abnormal eyelash morphology, Cryptorchidism, ... ORPHA:286
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cryptorchidism, Congenital hepatic fibrosis, Uterus ... ORPHA:93271
Coffin-Lowry Syndrome
Highly arched eyebrow, Coarse hair, Decreased body weight, Uterine prolapse, Thick eyebrow OMIM:303600
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Hypoplasia of the uterus, Clitoral hypoplasia, Anterior hypopituitarism ORPHA:709
Cutis Laxa, Autosomal Dominant 1
Uterine prolapse OMIM:123700
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Rectoperineal fistula, Hypospadias, Failure to thrive, Crypto... ORPHA:857
Primary Peritoneal Carcinoma
Neoplasm ORPHA:168829
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Small scrotum, Sparse eyelashes, Hypospadias, Supernumerary nipple, ... OMIM:601803
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Precocious puberty, Cryptorchidism, Abnormality of the anterior pituitary, Uterine prolapse, High... ORPHA:438213
Aneurysm-Osteoarthritis Syndrome
Uterine prolapse, Disproportionate tall stature ORPHA:284984
Classical Ehlers-Danlos Syndrome
Uterine prolapse, Cervical insufficiency ORPHA:287
Loeys-Dietz Syndrome 3
Uterine prolapse, Disproportionate tall stature, Cystocele 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
Brca1tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells

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