Gene: Brca2 MGI:109337

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

breast cancer 2, early onset

Synonyms:

RAB163, Fancd1

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 Brca2 mutations

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

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

Human diseases associated with Brca2 (13 diseases)
Human diseases predicted to be associated with Brca2 (895 diseases)

The table below shows human diseases associated to Brca2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Breast Cancer	Breast carcinoma	OMIM:114480
Prostate Cancer	Prostate cancer	OMIM:176807
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Hereditary Breast And Ovarian Cancer Syndrome	Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ...	ORPHA:145
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents	OMIM:605724
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Ovarian neoplasm, Breast carcinoma	OMIM:612555
Fanconi Anemia	Abnormality of femur morphology, Absent testis, Decreased fertility in males, Hypoplasia of the u...	ORPHA:84
Wilms Tumor 1	Nephroblastoma	OMIM:194070
Glioma Susceptibility 3	Medulloblastoma, Astrocytoma, Glioblastoma multiforme	OMIM:613029
Familial Pancreatic Carcinoma	Neoplasm of the liver, Breast carcinoma, Melanoma, Ovarian carcinoma, Colon cancer, Diabetes mell...	ORPHA:1333
Medulloblastoma	Medulloblastoma	OMIM:155255
Nephroblastoma	Neoplasm, Nephroblastoma, Neoplasm of the lung, Neoplasm of the liver	ORPHA:654
Cholangiocarcinoma	Biliary tract neoplasm	ORPHA:70567

The table below shows human diseases predicted to be associated to Brca2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Testicular Microlithiasis	Testicular microlithiasis	OMIM:610441
Testicular Torsion	Testicular torsion, Torsion of appendix of testis	OMIM:187400
Testes, Rudimentary	Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia	OMIM:273150
Pigmented Nodular Adrenocortical Disease, Primary, 3	Adrenal hyperplasia, Increased circulating cortisol level	OMIM:614190
Rhabdoid Tumor Predisposition Syndrome 2	Neoplasm of the central nervous system, Carcinoma	OMIM:613325
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Increased circulating ACTH level, Congenital adrenal hyperplasia	OMIM:613571
Fraxf Syndrome	Folate-dependent fragile site at Xq28	ORPHA:100974
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Hypogonadism, Male	Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis	OMIM:241100
Lichen Sclerosus Et Atrophicus	Squamous cell carcinoma, Carcinoma	OMIM:151590
Oocyte Maturation Defect 10	Female infertility, Miscarriage	OMIM:619176
Spermatogenic Failure, X-Linked, 2	Azoospermia, Testicular atrophy, Male infertility	OMIM:309120
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism, Adrenogenital syndrome	OMIM:103900
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Li-Fraumeni Syndrome 2	Glioma, Breast carcinoma, Stomach cancer, Meningioma, Sarcoma	OMIM:609265
Spina Bifida-Hypospadias Syndrome	Spinal dysraphism, Spina bifida	ORPHA:3176
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Partial Chromosome Y Deletion	Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ...	ORPHA:1646
Isochromosomy Yp	Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ...	ORPHA:98797
Precocious Puberty, Male-Limited	Precocious puberty in males, Decreased testicular size	OMIM:176410
Cerebral Sarcoma	Neoplasm, Fibrosarcoma	OMIM:117600
Melanoma-Pancreatic Cancer Syndrome	Oropharyngeal squamous cell carcinoma, Melanoma, Pancreatic squamous cell carcinoma, Squamous cel...	OMIM:606719
Isochromosomy Yq	Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins...	ORPHA:98798
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal meiosis	ORPHA:488191
Chromosomal Instability With Tissue-Specific Radiosensitivity	Abnormality of chromosome stability	OMIM:215510
Neural Tube Defects, X-Linked	Spina bifida, Anencephaly	OMIM:301410
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Spermatogenic Failure 57	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi...	OMIM:619528
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Oocyte Maturation Defect 9	Oocyte arrest at metaphase I, Female infertility	OMIM:619011
Spermatogenic Failure 72	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s...	OMIM:619867
Ring Chromosome Y Syndrome	Female infertility, Ambiguous genitalia, female, Streak ovary, Abnormality of the male genitalia,...	ORPHA:261529
Spermatogenic Failure 65	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619712
Lethal Congenital Contracture Syndrome 3	Neonatal death	OMIM:611369
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Spermatogenic Failure 71	Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility	OMIM:619831
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia	Unilateral vestibular schwannoma, Carcinoma	OMIM:603641
Spermatogenic Failure 20	Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 56	Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced...	OMIM:619515
Spermatogenic Failure 46	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell...	OMIM:619095
Oocyte Maturation Defect 2	Oocyte arrest at metaphase I, Female infertility	OMIM:616780
Oocyte Maturation Defect 4	Oocyte arrest at metaphase I, Female infertility	OMIM:617743
46,Xx Testicular Disorder Of Sex Development	Polycystic ovaries, Ambiguous genitalia, Male hypogonadism, Decreased testicular size	ORPHA:393
Spermatogenic Failure, X-Linked, 3	Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short...	OMIM:301059
Spermatogenic Failure 54	Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel...	OMIM:619379
Desmoid Tumor	Desmoid tumors, Sepsis, Fibroma, Intestinal polyposis, Neoplasm of the skin	ORPHA:873
Spermatogenic Failure 43	Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai...	OMIM:618751
Spermatogenic Failure 49	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe...	OMIM:619094
Premature Ovarian Failure 19	Irregular menstruation, Secondary amenorrhea, Female infertility, Premature ovarian insufficiency	OMIM:619245
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility	OMIM:619108
Epidermolysis Bullosa Simplex 2D, Generalized, Intermediate Or Severe, Autosomal Recessive	Recurrent upper respiratory tract infections, Sepsis	OMIM:619599
Spermatogenic Failure 40	Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse...	OMIM:618664
Spermatogenic Failure 39	Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili...	OMIM:618643
Oocyte Maturation Defect 8	Female infertility	OMIM:619009
Spermatogenic Failure 25	Azoospermia, Cryptozoospermia, Decreased testicular size	OMIM:617960
Spermatogenic Failure 42	Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma...	OMIM:618745
Oocyte Maturation Defect 12	Female infertility	OMIM:619697
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Abnormal calcium-phosphate regulating hormone level, Decreased circulating al...	ORPHA:3453
Spermatogenic Failure 63	Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility	OMIM:619689
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Azoospermia, Syndactyly, 2-4 toe syndactyly, Male hypogonadism	OMIM:241000
Spermatogenic Failure 58	Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ...	OMIM:619585
Colorectal Cancer, Susceptibility To, 10	Endometrial carcinoma, Colorectal polyposis, Carcinoma	OMIM:612591
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Neuroblastoma, Oropharyngeal squamous cell carcinoma, Pancreatic squamou...	ORPHA:443167
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Asherman Syndrome	Infertility, Miscarriage, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrua...	ORPHA:137686
Spermatogenic Failure 62	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619673
Spermatogenic Failure 61	Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest	OMIM:619672
Bullous Impetigo	Recurrent bacterial skin infections, Sepsis	ORPHA:36237
Spermatogenic Failure 73	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 4	Azoospermia, Male infertility	OMIM:270960
Spermatogenic Failure 74	Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 70	Azoospermia, Oligospermia, Male infertility, Reduced sperm motility	OMIM:619828
Spermatogenic Failure 47	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella	OMIM:619102
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity	Abnormality of chromosome stability	OMIM:600546
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid...	ORPHA:404
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 12	Azoospermia, Infertility, Abnormal male germ cell morphology	OMIM:615413
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma...	ORPHA:983
Spermatogenic Failure 41	Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head	OMIM:618670
Male Infertility Due To Acephalic Spermatozoa	Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid...	ORPHA:529970
Immunodeficiency 66	Sepsis	OMIM:618847
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Non-obstructive azoospermia, Abnormal spermatogenesis, Decreased testicular size, Azoospermia, In...	ORPHA:399805
Breast Cancer	Breast carcinoma	OMIM:114480
Spermatogenic Failure 11	Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility	OMIM:615081
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-...	ORPHA:403
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Spermatogenic Failure 7	Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 1	Cryptozoospermia, Oligospermia, Male infertility	OMIM:258150
Spermatogenic Failure 52	Azoospermia, Male infertility	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Azoospermia, Male infertility	OMIM:415000
Deafness-Infertility Syndrome	Azoospermia, Male infertility	ORPHA:94064
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Acth-Independent Macronodular Adrenal Hyperplasia	Neoplasm, Increased circulating cortisol level, Adrenal hyperplasia, Primary hypercortisolism, Ma...	OMIM:219080
Spermatogenic Failure 8	Azoospermia, Oligospermia, Cryptozoospermia	OMIM:613957
Spermatogenic Failure 32	Azoospermia, Infertility	OMIM:618115
Spermatogenic Failure 23	Azoospermia, Infertility	OMIM:617707
Prostate Cancer	Prostate cancer	OMIM:176807
Mitochondrial Complex I Deficiency, Nuclear Type 30	Intrauterine growth retardation, Neonatal death	OMIM:301021
Xeroderma Pigmentosum, Complementation Group G	Defective DNA repair after ultraviolet radiation damage, Small for gestational age	OMIM:278780
Immunodeficiency 46	Sepsis, Recurrent sinopulmonary infections, Chronic oral candidiasis	OMIM:616740
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hirsutism, Increased circulating cortisol level, Alopecia, Adrenal hyperplasia, Primary hypercort...	OMIM:615830
Oocyte Maturation Defect 11	Female infertility	OMIM:619643
Oocyte Maturation Defect 7	Female infertility	OMIM:618550
Oocyte Maturation Defect 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Preimplantation Embryonic Lethality 1	Female infertility	OMIM:616814
Oocyte Maturation Defect 1	Female infertility	OMIM:615774
Isolated Follicle Stimulating Hormone Deficiency	Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy...	ORPHA:52901
Lymphoproliferative Syndrome 2	Hodgkin lymphoma, Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent infections, Recurrent...	OMIM:615122
Hirschsprung Disease	Sepsis, Intestinal polyposis, Neoplasm of the thyroid gland	ORPHA:388
Deafness-Infertility Syndrome	Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi...	OMIM:611102
Reticular Dysgenesis	Sepsis	OMIM:267500
Spermatogenic Failure 5	Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa	OMIM:243060
Scleroderma, Familial Progressive	Chromosome breakage, Abnormality of chromosome stability	OMIM:181750
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Immotile sperm, Abnormal sperm morphology	OMIM:608653
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Bicornuate uterus, Short stature, Aplasia/hypoplasia of the uterus, Abnormal rib morphology, Azoo...	ORPHA:2578
Specific Granule Deficiency 2	Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent pneumonia, Recurrent otitis media	OMIM:617475
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility	OMIM:619696
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
N Syndrome	Abnormality of chromosome stability	OMIM:310465
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma, Chronic furunculosis, Recurrent cutaneous abscess formation	OMIM:613736
Spermatogenic Failure 30	Azoospermia, Cryptozoospermia	OMIM:618110
Spinocerebellar Ataxia Type 32	Azoospermia, Testicular atrophy, Male infertility	ORPHA:276183
Spermatogenic Failure 44	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Galactose Mutarotase Deficiency	Sepsis	ORPHA:570422
Epidermodysplasia Verruciformis, Susceptibility To, 3	Squamous cell carcinoma, Basal cell carcinoma	OMIM:618267
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Lung adenocarcinoma, Choriocarcinoma, Breast carcinoma, Prostate cancer...	OMIM:151623
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Decreased circulating renin level, Hyperaldosteronism	OMIM:613677
Tumor Predisposition Syndrome 2	Adenomatous colonic polyposis, Juvenile type ovarian granulosa cell tumor, Colon cancer, Uveal me...	OMIM:619975
Morbid Obesity And Spermatogenic Failure	Infertility, Type II diabetes mellitus, Azoospermia, Oligospermia, Obesity	OMIM:615703
Nijmegen Breakage Syndrome-Like Disorder	Chromosomal breakage induced by ionizing radiation	OMIM:613078
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome	Clinodactyly of the 5th finger, Short stature, Pectus carinatum, Radioulnar synostosis, Abnormal ...	ORPHA:3268
Combined Immunodeficiency Due To Crac Channel Dysfunction	Recurrent mycobacterial infections, Neoplasm, Recurrent fungal infections, Sepsis, Recurrent bact...	ORPHA:169090
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Recurrent bacterial skin infections, Chronic oral candidiasis, Recurrent cutaneous fungal infecti...	ORPHA:276
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Eunuchoid habitus, Primary amenorrhea, Secondary amenorrhea, Increased female libido, ...	ORPHA:432
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility	OMIM:261550
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Acth-Independent Macronodular Adrenal Hyperplasia 2	Macronodular adrenal hyperplasia, Increased urinary cortisol level, Decreased circulating ACTH le...	OMIM:615954
Cowden Syndrome 7	Papilloma, Breast carcinoma, Hemangioma, Trichilemmoma, Papillary thyroid carcinoma, Intestinal p...	OMIM:616858
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Sh...	ORPHA:2183
Satoyoshi Syndrome	Amenorrhea, Abnormality of femur morphology, Nephrogenic diabetes insipidus, Hypoplasia of the ut...	ORPHA:3130
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm	ORPHA:1221
Spermatogenic Failure 2	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:108420
Maternal Uniparental Disomy Of Chromosome X	Short stature, Camptodactyly of finger, Shield chest, Rocker bottom foot, Ambiguous genitalia, Pr...	ORPHA:261519
Spermatogenic Failure 29	Azoospermia	OMIM:618091
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Spermatogenic Failure 14	Azoospermia	OMIM:615842
Deleted in azoospermia	Azoospermia	OMIM:400003
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
Familial Adenomatous Polyposis 1	Adenomatous colonic polyposis, Medulloblastoma, Hepatoblastoma, Multiple gastric polyps, Fibroade...	OMIM:175100
49,Xyyyy Syndrome	Abnormality of the testis size, Large carpal bones, Decreased serum testosterone concentration, E...	ORPHA:99330
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome	Abnormality of the thyroid gland, Type II diabetes mellitus, Eunuchoid habitus, Hypoplasia of pen...	ORPHA:2234
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent candida infections, Onychomycosis, Recurrent bacterial skin infections, Anal canal squa...	ORPHA:217390
Neonatal Alloimmune Neutropenia	Sepsis	ORPHA:464370
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr...	OMIM:614837
Xeroderma Pigmentosum, Autosomal Dominant, Mild	Defective DNA repair after ultraviolet radiation damage	OMIM:194400
Ring Chromosome 21 Syndrome	Amenorrhea, Infertility, Short stature, Small hand, Syndactyly, Abnormal thorax morphology, Clino...	ORPHA:1445
48,Xxyy Syndrome	Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Azoo...	ORPHA:10
46,Xy Partial Gonadal Dysgenesis	Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h...	ORPHA:251510
Premature Ovarian Failure 6	Female infertility, Hypoplasia of the uterus, Streak ovary, Elevated circulating luteinizing horm...	OMIM:612310
Fanconi Anemia, Complementation Group G	Abnormality of chromosome stability	OMIM:614082
Premature Ovarian Failure 13	Amenorrhea, Female infertility, Hypoplasia of the uterus, Oligomenorrhea, Elevated circulating fo...	OMIM:617442
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Abnormal spermatoge...	ORPHA:399808
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Ovarian cyst, Decreased circulating cortisol level, Abnormal response to ACTH stimulation test, I...	ORPHA:90793
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Sprengel anomaly, Hypoplasia of the uterus, Bicornuate uterus, Short stature, Abnormal rib morpho...	OMIM:601076
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ...	OMIM:228300
Immunodeficiency 102	Sepsis, Recurrent upper respiratory tract infections, Recurrent lower respiratory tract infection...	OMIM:301082
Spermatogenic Failure 38	Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti...	OMIM:618433
Reticular Dysgenesis	Sepsis, Recurrent respiratory infections	ORPHA:33355
Kennedy Disease	Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility	ORPHA:481
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Neurogenic Thoracic Outlet Syndrome	Abnormal rib morphology	ORPHA:100073
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Abnormality of the ovary, Decreased testicular size, Hypogonadism	ORPHA:1875
Autosomal Agammaglobulinemia	Sepsis, Verrucae, Recurrent infections, Recurrent respiratory infections	ORPHA:33110
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Abnormal rib morphology, Short stature	ORPHA:2435
Primary Pigmented Nodular Adrenocortical Disease	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Pi...	ORPHA:189439
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Infertility, Abnormal vagina morphology, Hypoplasia of the uterus, Decreased serum testosterone c...	ORPHA:168563
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Fanconi Anemia, Complementation Group J	Chromosomal breakage induced by crosslinking agents	OMIM:609054
Felty Syndrome	Sepsis, Recurrent urinary tract infections, Lymphoma, Recurrent pharyngitis, Recurrent infections...	ORPHA:47612
Acquired Purpura Fulminans	Neoplasm, Sepsis	ORPHA:49566
Ovarian Dysgenesis 2	Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon...	OMIM:300510
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly	Narrow chest, Lateral clavicle hook, Postaxial polydactyly, Brachydactyly, Bell-shaped thorax, Ho...	OMIM:615633
Premature Ovarian Failure 10	Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo...	OMIM:612885
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Breast carcinoma, Duodenal adenocarcinoma,...	ORPHA:454840
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Hypoplasia of the uterus, Hypoplasia of the ovary, Decreased serum testosterone concentration, Mi...	OMIM:614841
Pyomyositis	Testicular teratoma, Sepsis, Recurrent infections, Recurrent cutaneous abscess formation	ORPHA:764
Partial Androgen Insensitivity Syndrome	Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito...	ORPHA:90797
Isolated Agammaglobulinemia	Sepsis, Recurrent respiratory infections, Recurrent cutaneous abscess formation	ORPHA:229717
Spondylometaphyseal Dysplasia, Type A4	Sclerotic humeral metaphysis, Metaphyseal irregularity, Disproportionate short-limb short stature...	OMIM:609052
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Premature pubarche	OMIM:201810
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul...	OMIM:229070
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Primary Unilateral Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera...	ORPHA:231580
Azoospermia, Obstructive, With Nephrolithiasis	Male infertility, Obstructive azoospermia, Spermatocele	OMIM:301060
Spermatogenic Failure 75	Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert...	OMIM:619949
Spermatogenic Failure 15	Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating...	OMIM:616950
Anemia, Hypochromic Microcytic, With Iron Overload 2	Azoospermia, Growth delay, Hypogonadism	OMIM:615234
Selective Igm Deficiency	Onychomycosis, Multiple myeloma, Thyroid carcinoma, Recurrent infection of the gastrointestinal t...	ORPHA:331235
X-Linked Agammaglobulinemia	Neoplasm, Recurrent cutaneous abscess formation, Recurrent pneumonia, Sepsis	ORPHA:47
Hemochromatosis, Type 2A	Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia	OMIM:602390
Sporadic Creutzfeldt-Jakob Disease	Sepsis, Recurrent infections	ORPHA:204
Adrenal Hypoplasia, Congenital	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	OMIM:300200
Mosaic Trisomy 14	Narrow chest, Failure to thrive, Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Abnor...	ORPHA:1703
46,Xx Gonadal Dysgenesis	Streak ovary, Short stature, Arachnodactyly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypo...	ORPHA:243
Radial-Renal Syndrome	Chromosome breakage	OMIM:179280
Ovarian Dysgenesis 10	Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am...	OMIM:619834
Premature Ovarian Failure 20	Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Female infertility...	OMIM:619938
Bone Marrow Failure Syndrome 5	Testicular atrophy, Hypogonadism	OMIM:618165
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad...	OMIM:300845
Ovarian Dysgenesis 9	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619665
Alg1-Cdg	Sepsis, Recurrent infections	ORPHA:79327
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia	Paradoxical increased cortisol secretion on dexamethasone suppression test, Pituitary adenoma, Hi...	ORPHA:189427
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Sepsis	OMIM:619059
Frontal Encephalocele	Hydrocephalus, Spina bifida, Encephalocele	ORPHA:1931
Asplenia, Isolated Congenital	Thrombocytosis, Asplenia, Howell-Jolly bodies	OMIM:271400
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Breast carcinoma, Decreased circulating cortisol level, Inc...	ORPHA:90790
Premature Ovarian Failure 5	Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda...	OMIM:611548
Transcobalamin Deficiency	Abnormality of chromosome stability	ORPHA:859
Androgen Insensitivity, Partial	Infertility, Abnormal rib cage morphology, Bifid scrotum, Micropenis, Male pseudohermaphroditism,...	OMIM:312300
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplastic spleen	ORPHA:89844
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism	ORPHA:369929
Gracile Bone Dysplasia	Failure to thrive, Hypoplastic spleen, Asplenia	OMIM:602361
48,Xyyy Syndrome	Dislocated radial head, Radioulnar synostosis, Male hypogonadism, Primary gonadal insufficiency, ...	ORPHA:99329
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Testicular atrophy, Decreased serum testosterone concentration, Eunuchoid habitus, Leydig cell in...	OMIM:308700
Stuve-Wiedemann Syndrome 2	Intrauterine growth retardation, Stillbirth, Neonatal death, Death in adolescence	OMIM:619751
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Adrenocorticotropic ...	ORPHA:90791
Hereditary Breast And Ovarian Cancer Syndrome	Neoplasm of the pancreas, Ovarian neoplasm, Breast carcinoma, Prostate cancer, Melanoma, Primary ...	ORPHA:145
48,Xxxy Syndrome	Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Azoospermia, Hypoplasia o...	ORPHA:96263
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, female, Pectus excavatum, Streak ovary, Ambiguous genitalia, Abnormal intern...	ORPHA:1772
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Increased serum testosterone level, Congenital adrenal hyperplasia	ORPHA:96181
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Hypoplasia of the ovary, Reduced circulating prolactin concentration, Short stature, Hypogonadotr...	ORPHA:2235
Autosomal Dominant Spondylocostal Dysostosis	Severe short stature, Posterior rib fusion, Abnormal morphology of female internal genitalia, Abn...	ORPHA:1797
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Short stature, Hypergonadotropic hypogonad...	ORPHA:280679
Obesity Due To Congenital Leptin Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:66628
Generalized Glucocorticoid Resistance Syndrome	Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased circulating cor...	ORPHA:786
Metatropic Dysplasia	Halberd-shaped pelvis, Cone-shaped epiphysis, Disproportionate short-trunk short stature, Hyperpl...	OMIM:156530
Diastrophic Dysplasia	Abnormal clavicle morphology, Neonatal short-limb short stature, Visceral angiomatosis, Hip dyspl...	ORPHA:628
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Hypoplasia of the thymus, B lymphocytopenia, T lymphocytopenia, Impaired lymphocyte transformatio...	OMIM:619313
Multiple Endocrine Neoplasia, Type Iv	Pituitary adenoma, Parathyroid adenoma, Carcinoid tumor, Renal angiomyolipoma, Pancreatic endocri...	OMIM:610755
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Disproportionate short-limb short stature, Hypoplasia of penis, Abnormal rib morphology, Ambiguou...	ORPHA:2772
Perrault Syndrome 4	Hypoplasia of the ovary, Hypoplasia of the uterus, Bicornuate uterus, Oligomenorrhea, Primary ame...	OMIM:615300
Obesity Due To Leptin Receptor Gene Deficiency	Hypoplasia of the ovary, Hyperinsulinemia, Decreased serum testosterone concentration, Hypergonad...	ORPHA:179494
Young Syndrome	Azoospermia	OMIM:279000
Warty Dyskeratoma	Acantholysis, Abnormal labia majora morphology, Vulvar neoplasm, Neoplasm of the tongue	ORPHA:69745
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Hypergonadotropic hypogonadism, Male hypogonadism, Superior rib anomalies	OMIM:307500
Jeune Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal sternum morphology, Short stature, Cone-shap...	ORPHA:474
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
Xeroderma Pigmentosum, Complementation Group F	Defective DNA repair after ultraviolet radiation damage, Deficient excision of UV-induced pyrimid...	OMIM:278760
Familial Male-Limited Precocious Puberty	Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism	ORPHA:3000
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Recurrent tonsillitis, Sepsis, Recurrent urinary tract infections, Recurrent streptococcal infect...	ORPHA:183675
49,Xxxxy Syndrome	Infertility, Type II diabetes mellitus, Clinodactyly of the 5th finger, Hypoplasia of penis, Shor...	ORPHA:96264
Perrault Syndrome 6	Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame...	OMIM:617565
47,Xyy Syndrome	Increased serum testosterone level, Cryptorchidism, Micropenis, Hypospadias, Oligospermia, Finger...	ORPHA:8
Spermatogenic Failure 28	Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul...	OMIM:618086
Maffucci Syndrome	Chondrosarcoma, Pituitary adenoma, Ovarian neoplasm, Parathyroid adenoma, Breast carcinoma, Exost...	ORPHA:163634
Ovarian Dysgenesis 3	Female infertility, Elevated circulating follicle stimulating hormone level, Elevated circulating...	OMIM:614324
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis	ORPHA:289916
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome	Abnormal vagina morphology, Streak ovary, Hypospadias, Nephroblastoma, Abnormality of the uterus,...	OMIM:194072
Bardet-Biedl Syndrome	Hypoplasia of the ovary, Hypoplasia of penis, Short stature, Postaxial hand polydactyly, Hypogona...	ORPHA:110
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Increased serum testosterone level, Decreased circulating aldosterone level, Elevated serum 11-de...	OMIM:202010
Mirage Syndrome	Decreased body weight, Lymphopenia, Leukopenia, Patent ductus arteriosus, Hypoplastic spleen, Ane...	OMIM:617053
Immunodeficiency, Common Variable, 8, With Autoimmunity	Lymphoproliferative disorder, Sepsis, Lymphoma, Recurrent sinusitis, Recurrent infections, Recurr...	OMIM:614700
Premature Ovarian Failure 18	Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level...	OMIM:619203
Ophthalmoplegia, External, And Myopia	Spina bifida	OMIM:311000
Premature Ovarian Failure 8	Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe...	OMIM:615723
Posttransplant Acute Limbic Encephalitis	Sepsis	ORPHA:163921
Omenn Syndrome	Sepsis, Lymphoma	ORPHA:39041
Axial Spondylometaphyseal Dysplasia	Mild postnatal growth retardation, Upper limb undergrowth, Disproportionate short-trunk short sta...	ORPHA:168549
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Impotence, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Contracture of the p...	ORPHA:2232
Leukocyte Adhesion Deficiency, Type Iii	Recurrent bacterial infections, Sepsis	OMIM:612840
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin...	OMIM:614897
Acalvaria	Hydrocephalus, Spina bifida, Holoprosencephaly	ORPHA:945
Renpenning Syndrome	Sprengel anomaly, Pectus excavatum, Severe short stature, Clinodactyly of the 5th finger, Hypospa...	ORPHA:3242
Hyperkeratosis Lenticularis Perstans	Squamous cell carcinoma, Basal cell carcinoma	ORPHA:409
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly	Narrow chest, Acetabular spurs, Short ribs, Short stature, Trident acetabulum, Brachydactyly, Pos...	OMIM:617405
Femoral-Facial Syndrome	Sprengel anomaly, Rib fusion, Coxa vara, Aplasia/Hypoplasia of the tibia, Short stature, Short fe...	ORPHA:1988
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Hemochromatosis, Type 1	Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Hepatocellular carcinom...	OMIM:235200
Hypogonadotropic Hypogonadism 25 With Anosmia	Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh...	OMIM:618841
Epidermolysis Bullosa, Lethal Acantholytic	Clinodactyly of the 5th finger, Widely spaced toes, Tapered distal phalanges of finger, Syndactyl...	OMIM:609638
Leukoencephalopathy With Dystonia And Motor Neuropathy	Hypergonadotropic hypogonadism, Azoospermia	OMIM:613724
Galactosemia	Sepsis	ORPHA:352
Acrocapitofemoral Dysplasia	Cone-shaped epiphyses of the phalanges of the hand, Pectus excavatum, Hypoplasia of the radius, C...	OMIM:607778
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Sepsis	ORPHA:231154
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Hypospadias, Camptodactyly, Abnormal rib morphology, Rhizomelia, Short foot, Postnata...	OMIM:611209
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Narrow chest, Abnormal clavicle morphology, Abnormal rib morphology, Ambiguous genitalia, Rhizome...	ORPHA:93267
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Sepsis	ORPHA:544503
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Carcinoma	OMIM:615225
Classic Galactosemia	Sepsis	ORPHA:79239
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Aplasia/Hypoplasia of fingers, Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature...	ORPHA:3082
Schopf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Basal cell carcinoma, Poroma, Apocrine hidrocystoma	OMIM:224750
Thymic Aplasia	Recurrent candida infections, Recurrent streptococcus pneumoniae infections, Recurrent infection ...	ORPHA:83471
Agammaglobulinemia, X-Linked	Enteroviral dermatomyositis syndrome, Pyoderma, Sepsis, Hepatocellular carcinoma, Recurrent urina...	OMIM:300755
Prune Belly Syndrome	Urogenital sinus anomaly, Failure to thrive, Pectus excavatum, Cryptorchidism, Congenital hip dis...	ORPHA:2970
Kyphomelic Dysplasia	Narrow chest, Undulate ribs, Anterior rib cupping, Flat acetabular roof, Missing ribs, Short thor...	ORPHA:1801
Fanconi Anemia, Complementation Group A	Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu...	OMIM:227650
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Sepsis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent pneumonia, R...	OMIM:618986
Müllerian Aplasia And Hyperandrogenism	Abnormal vagina morphology, Increased serum testosterone level, Hypoplasia of the uterus, Short s...	ORPHA:247768
Spermatogenic Failure, X-Linked, 4	Abnormal prolactin level, Decreased serum testosterone concentration, Elevated circulating lutein...	OMIM:301077
Frasier Syndrome	Gonadal dysgenesis with female appearance, male, Ambiguous genitalia, male, Streak ovary, Hypergo...	ORPHA:347
Lamellar Ichthyosis	Sepsis, Recurrent respiratory infections	ORPHA:313
Fanconi Anemia, Complementation Group D1	Chromosomal breakage induced by crosslinking agents	OMIM:605724
Stormorken-Sjaastad-Langslet Syndrome	Anemia, Asplenia	ORPHA:3204
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome	Neonatal sepsis, Recurrent infections	OMIM:614739
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Spina bifida, Anencephaly	ORPHA:2476
Hypergonadotropic Hypogonadism And Partial Alopecia	Hypergonadotropic hypogonadism, Streak ovary	OMIM:241090
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Calciphylaxis	Sepsis	ORPHA:280062
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent candida infections, Recurrent upper respiratory tract infections, Recurrent lower respi...	ORPHA:169154
Gonadoblastoma	Ovarian gonadoblastoma, Increased serum testosterone level, Gonadal dysgenesis with female appear...	ORPHA:206484
Craniodiaphyseal Dysplasia	Abnormal rib morphology, Diaphyseal thickening, Short stature	ORPHA:1513
Immunodeficiency 68	Sepsis	OMIM:612260
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections	OMIM:616100
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Burkitt lymphoma, Multiple myeloma, Hodgkin lymphoma, B-cell lymphoma, Prostate cancer, Nephrobla...	ORPHA:158057
Immunodeficiency 54	Chromosome breakage	OMIM:609981
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Testicular atrophy, Decreased fertility	OMIM:313200
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Thin ribs, Short stature, Metaphyseal cupping of metacarpals, Abnormality of the calcaneus, Rhizo...	ORPHA:163966
Fanconi Anemia, Complementation Group O	Chromosome breakage	OMIM:613390
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Male pseudohermaphroditism, Aplasia/hypoplasia of the uterus, Testicul...	ORPHA:754
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Sepsis, Recurrent upper respiratory tract infections, Recurrent sinusitis, Recurrent bronchitis, ...	ORPHA:293978
10Q22.3Q23.3 Microduplication Syndrome	Abnormal rib morphology, Ambiguous genitalia, Abnormal clavicle morphology, Hypospadias	ORPHA:276422
Craniosynostosis, Herrmann-Opitz Type	Short stature, Abnormality of the urethra, Brachydactyly, Abnormal rib morphology, Split hand, In...	ORPHA:2145
Pemphigus Vulgaris	Weight loss, Acantholysis	ORPHA:704
Metaphyseal Chondrodysplasia, Schmid Type	Femoral bowing, Short long bone, Metaphyseal irregularity, Disproportionate short-limb short stat...	ORPHA:174
Cowden Syndrome 1	Breast carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinom...	OMIM:158350
Osteosclerosis With Ichthyosis And Premature Ovarian Failure	Hypoplasia of the ovary, Premature ovarian insufficiency	OMIM:609993
Pgm3-Cdg	Recurrent fungal infections, Sepsis, Recurrent bacterial infections, Lymphoma, Recurrent infectio...	ORPHA:443811
Infant Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70587
Cog4-Cdg	Recurrent upper respiratory tract infections, Recurrent infection of the gastrointestinal tract, ...	ORPHA:263501
Juberg-Hayward Syndrome	Abnormality of finger, Severe short stature, Hypoplasia of the radius, Hypospadias, Radioulnar sy...	ORPHA:2319
8P11.2 Deletion Syndrome	Supernumerary ribs, Azoospermia, Hypoplasia of penis, Short stature, Hypogonadotropic hypogonadis...	ORPHA:251066
Heart Defects-Limb Shortening Syndrome	Narrow chest, Mesomelic/rhizomelic limb shortening, Abnormal rib morphology, Abnormal metaphysis ...	ORPHA:1354
Fanconi Anemia, Complementation Group C	Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu...	OMIM:227645
Fanconi Anemia, Complementation Group E	Absent thumb, Small for gestational age, Hypergonadotropic hypogonadism, Short stature, Short thu...	OMIM:600901
Bloom Syndrome	Growth delay, Type II diabetes mellitus, Postnatal growth retardation, Clinodactyly of the 5th fi...	OMIM:210900
Whim Syndrome	Papilloma, Cutaneous melanoma, Sepsis, Recurrent bacterial infections, Recurrent upper respirator...	ORPHA:51636
Ataxia-Telangiectasia	Abnormality of chromosome stability	ORPHA:100
Perrault Syndrome 2	Amenorrhea, Streak ovary	OMIM:614926
Kallmann Syndrome With Spastic Paraplegia	Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog...	OMIM:308750
Oncogenic Osteomalacia	Giant cell tumor of bone, Neurofibromas, Osteosarcoma, Neoplasm of head and neck, Neoplasm of the...	ORPHA:352540
Aarskog-Scott Syndrome	Failure to thrive, Testicular atrophy, Pectus excavatum, Decreased serum testosterone concentrati...	OMIM:305400
Adult Acute Respiratory Distress Syndrome	Sepsis	ORPHA:70578
Lethal Acantholytic Erosive Disorder	Clinodactyly of the 5th finger, Camptodactyly of toe, 2-3 finger syndactyly, 4-5 finger syndactyl...	ORPHA:158687
Kid Syndrome	Recurrent candida infections, Recurrent bacterial skin infections, Recurrent cutaneous fungal inf...	ORPHA:477
Mitochondrial Complex Iv Deficiency, Nuclear Type 16	Chromosomal breakage induced by crosslinking agents	OMIM:619060
Autosomal Recessive Spondylocostal Dysostosis	Rib fusion, Short stature, Hypospadias, Camptodactyly of finger, Abnormal morphology of female in...	ORPHA:2311
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormal resp...	ORPHA:95699
Ciliary Dyskinesia, Primary, 40	Infertility, Absent outer dynein arms, Azoospermia	OMIM:618300
Acute Lung Injury	Sepsis	ORPHA:178320
Familial Glucocorticoid Deficiency	Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub...	ORPHA:361
Craniorachischisis	Myelomeningocele, Cervical spina bifida, Anencephaly, Sirenomelia, Spinal dysraphism	ORPHA:63260
Bloom Syndrome	Stomach cancer, Intrauterine growth retardation, Abdominal obesity, Neoplasm of the colon, Esopha...	ORPHA:125
Heme Oxygenase 1 Deficiency	Sepsis	OMIM:614034
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Hodgkin lymphoma, Breast carcinoma, Stomach cancer, Prostate cancer, Melanom...	ORPHA:79501
Fanconi Anemia, Complementation Group V	Chromosomal breakage induced by crosslinking agents	OMIM:617243
Fragile X Syndrome	Folate-dependent fragile site at Xq28	OMIM:300624
De Sanctis-Cacchione Syndrome	Severe short stature, Bilateral coxa valga, Melanoma, Gonadal hypoplasia, Defective DNA repair af...	OMIM:278800
Xeroderma Pigmentosum Variant	Squamous cell carcinoma, Melanoma, Basal cell carcinoma	ORPHA:90342
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Mitochondrial hypertrophy, Female infertility, Premature ovarian insufficiency, Short stature	OMIM:619518
3M Syndrome	Enlarged thorax, Clinodactyly of the 5th finger, Thin ribs, Short stature, Hypospadias, Congenita...	ORPHA:2616
Apc-Related Attenuated Familial Adenomatous Polyposis	Adrenocortical adenoma, Odontoma, Adrenocortical carcinoma, Lipoma, Multiple gastric polyps, Duod...	ORPHA:247806
Inhalational Anthrax	Sepsis	ORPHA:247257
Skin Fragility-Woolly Hair Syndrome	Failure to thrive, Acantholysis, Palmoplantar hyperkeratosis	OMIM:607655
Complete Androgen Insensitivity Syndrome	Increased serum testosterone level, Blind vagina, Increased antimullerian hormone level, Abnormal...	ORPHA:99429
Schöpf-Schulz-Passarge Syndrome	Squamous cell carcinoma, Basal cell carcinoma, Ovarian neoplasm	ORPHA:50944
Spondyloepimetaphyseal Dysplasia, Irapa Type	Coxa vara, Disproportionate short-limb short stature, Synostosis of carpal bones, Upper limb unde...	ORPHA:93351
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Mucopolysaccharidosis-Plus Syndrome	Sepsis, Recurrent bronchopulmonary infections, Recurrent pneumonia, Recurrent respiratory infections	OMIM:617303
Ovarian Fibrothecoma	Increased serum testosterone level, Diffuse leiomyomatosis, Fibrosarcoma, Abnormal endometrium mo...	ORPHA:314478
Cat-Eye Syndrome	Abnormal rib morphology, Hip dysplasia, Intrauterine growth retardation, Short stature	ORPHA:195
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Sepsis, Neoplasm of the heart	ORPHA:2241
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome	Blind vagina, Thin ribs, Bifid scrotum, Micropenis, Glandular hypospadias, Penile hypospadias, Pe...	ORPHA:456328
Becker Nevus Syndrome	Rib fusion, Pectus excavatum, Supernumerary nipple, Pectus carinatum, Abnormality of tibia morpho...	ORPHA:64755
Fanconi Anemia, Complementation Group S	Chromosome breakage	OMIM:617883
Breast-Ovarian Cancer, Familial, Susceptibility To, 2	Ovarian neoplasm, Breast carcinoma	OMIM:612555
Microcephalic Primordial Dwarfism, Toriello Type	Severe short stature, Brachydactyly, Abnormal rib morphology, Abnormal epiphysis morphology, Intr...	ORPHA:2643
Trisomy 13	Narrow chest, Ectrodactyly, Capillary hemangioma, Abnormal morphology of female internal genitali...	ORPHA:3378
Hyper-Ige Recurrent Infection Syndrome 2, Autosomal Recessive	Recurrent fungal infections, Recurrent bacterial infections, Squamous cell carcinoma, Recurrent s...	OMIM:243700
Laterality Defects, Autosomal Dominant	Asplenia	OMIM:601086
Meningococcal Meningitis	Sepsis	ORPHA:33475
Metatropic Dysplasia	Narrow chest, Halberd-shaped pelvis, Severe short stature, Clinodactyly of the 5th finger, Campto...	ORPHA:2635
Thin Ribs-Tubular Bones-Dysmorphism Syndrome	Abnormal rib morphology, Intrauterine growth retardation, Slender long bone, Abnormal pelvic gird...	ORPHA:1506
Autosomal Recessive Kenny-Caffey Syndrome	Growth delay, Cortical thickening of long bone diaphyses, Thin ribs, Stenosis of the medullary ca...	ORPHA:93324
Peroxisome Biogenesis Disorder 12A (Zellweger)	Sepsis	OMIM:614886
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Asplenia	OMIM:618948
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked	Abnormal rib morphology	OMIM:300864
Cyclic Neutropenia	Sepsis, Recurrent tonsillitis	ORPHA:2686
Fragile X Syndrome	Folate-dependent fragile site at Xq28	ORPHA:908
Ring Chromosome 22 Syndrome	Azoospermia, 2-3 toe syndactyly, Growth delay, Neurofibromas	ORPHA:1446
Fanconi Anemia, Complementation Group Q	Chromosome breakage	OMIM:615272
Scedosporiosis	Sepsis	ORPHA:449280
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Growth delay, Acantholysis, Orthokeratosis, Palmoplantar keratoderma	OMIM:615508
Immunodeficiency With Hyper-Igm, Type 1	Recurrent lower respiratory tract infections, Recurrent bacterial infections, Sepsis, Chronic ora...	OMIM:308230
Fanconi Anemia	Abnormality of femur morphology, Absent testis, Decreased fertility in males, Hypoplasia of the u...	ORPHA:84
Darier-White Disease	Acantholysis, Enlargement of parotid gland, Subungual hyperkeratotic fragments	OMIM:124200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin, Sepsis, Recurrent infections	ORPHA:79396
Grant Syndrome	Sprengel anomaly, Narrow chest, Short stature, Abnormality of the glenoid fossa, Abnormal rib mor...	ORPHA:2097
Endosteal Hyperostosis, Worth Type	Abnormal rib morphology, Clavicular sclerosis, Diaphyseal thickening	ORPHA:2790
Secondary Short Bowel Syndrome	Sepsis	ORPHA:95427
Legionnaires Disease	Sepsis, Recurrent pharyngitis	ORPHA:549
Aromatase Deficiency	Delayed epiphyseal ossification, Female infertility, Ambiguous genitalia, female, Eunuchoid habit...	ORPHA:91
Leopard Syndrome 1	Hypoplasia of the ovary, Pectus excavatum, Short stature, Delayed menarche, Micropenis, Hypospadi...	OMIM:151100
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo...	OMIM:400045
Staphylococcal Necrotizing Pneumonia	Sepsis	ORPHA:36238
Fanconi Anemia, Complementation Group D2	Annular pancreas, Neutropenia, Small for gestational age, Thrombocytopenia, Deficient excision of...	OMIM:227646
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Absent thumb, Short femur, Micropenis, Short stature, Short tibia, Hypoplasia of the ulna, Aplasi...	OMIM:612447
Dyggve-Melchior-Clausen Disease	Broad carpal bones, Hypoplasia of the capital femoral epiphysis, Pectus carinatum, Disproportiona...	ORPHA:239
Ventilator-Induced Diaphragmatic Dysfunction	Sepsis	ORPHA:505395
Schisis Association	Encephalocele, Spina bifida, Anencephaly	ORPHA:63862
Meier-Gorlin Syndrome 1	Absent glenoid fossa, Birth length less than 3rd percentile, Pectus carinatum, Genu valgum, Clito...	OMIM:224690
Pearson Syndrome	Exocrine pancreatic insufficiency, Neutropenia, Hepatomegaly, Splenomegaly, Small for gestational...	ORPHA:699
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility	ORPHA:48
Cushing Syndrome Due To Ectopic Acth Secretion	Medullary thyroid carcinoma, Neuroendocrine neoplasm, Neoplasm of the thymus, Small intestine car...	ORPHA:99889
Myotubular Myopathy With Abnormal Genital Development	Ambiguous genitalia, male, Thin ribs, Bifid scrotum, Micropenis, Hypospadias, Unilateral cryptorc...	OMIM:300219
Large Congenital Melanocytic Nevus	Neoplasm, Cutaneous melanoma, Rhabdomyosarcoma, Sarcoma, Neoplasm of the skin	ORPHA:626
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Hypoplastic spleen, Multilobulated spleen	OMIM:601186
Craniodiaphyseal Dysplasia, Autosomal Dominant	Elevated circulating parathyroid hormone level, Thickened ribs, Diaphyseal sclerosis, Short stature	OMIM:122860
Lassa Fever	Sepsis	ORPHA:99824
Superficial Epidermolytic Ichthyosis	Palmoplantar keratoderma, Acantholysis	ORPHA:455
Familial Benign Chronic Pemphigus	Acantholysis, Hyperkeratosis	ORPHA:2841
Septopreoptic Holoprosencephaly	Central diabetes insipidus, Precocious puberty, Anterior hypopituitarism, Abnormal rib morphology	ORPHA:280195
Congenital Enterovirus Infection	Sepsis	ORPHA:292
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Sepsis, Recurrent urinary tract infections, Recurrent bacterial infections, Recurrent upper respi...	OMIM:612541
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Clinodactyly of the 5th finger, Hypoplasia of penis, Short stature, Abnormal hip bone morphology,...	ORPHA:3068
Chronic Granulomatous Disease	Sepsis, Recurrent respiratory infections	ORPHA:379
Immunodeficiency 59 And Hypoglycemia	Recurrent lower respiratory tract infections, Sepsis, Recurrent upper respiratory tract infections	OMIM:233600
Hypoglossia With Situs Inversus	Polysplenia, Asplenia	OMIM:612776
Cryptococcosis	Neoplasm, Sepsis, Lymphoid leukemia	ORPHA:1546
Kenny-Caffey Syndrome, Type 1	Thin ribs, Long clavicles, Congenital hypoparathyroidism, Thin clavicles, Small hand, Birth lengt...	OMIM:244460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal clavicle morphology, Pectus excavatum, Short stature, Abnormal hip bone morphology, Hypo...	ORPHA:2522
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases	Spina bifida	OMIM:211960
Ataxia-Telangiectasia With Generalized Skin Pigmentation And Early Death	Chromosome breakage, Abnormality of chromosome stability	OMIM:208910
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Decreased fibular diameter, Micropenis, Small for gestational age, Hypospadias, Short ribs, Multi...	OMIM:616897
Shwachman-Diamond Syndrome	Sepsis, Recurrent bacterial infections, Myelodysplasia, Recurrent viral infections, Leukemia, Acu...	ORPHA:811
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral chest hypoplasia, Short stature, Follicular hyperkeratosis, Abnormal rib morphology, P...	OMIM:308205
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Narrow chest, Short ribs, Hypoplasia of the radius, Hypoplastic ilia, Postaxial polydactyly, Brac...	OMIM:617895
Toxic Epidermal Necrolysis	Abnormal vagina morphology, Weight loss, Abnormality of the urethra, Acantholysis	ORPHA:537
Alg12-Cdg	Sepsis, Recurrent ear infections, Recurrent pharyngitis, Recurrent pneumonia, Recurrent respirato...	ORPHA:79324
Ellis-Van Creveld Syndrome	Narrow chest, Acetabular spurs, Disproportionate short-limb short stature, Neonatal short-limb sh...	OMIM:225500
46,Xx Sex Reversal 2	Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B...	OMIM:278850
Avian Influenza	Sepsis	ORPHA:454836
Endove Syndrome, Limb-Only Type	Neonatal sepsis	OMIM:619217
Wiskott-Aldrich Syndrome	Neoplasm, Sepsis, Lymphoma, Chronic leukemia, Acute leukemia, Recurrent respiratory infections	ORPHA:906
Acro-Renal-Mandibular Syndrome	Sprengel anomaly, Abnormal clavicle morphology, Bicornuate uterus, Thin ribs, Split foot, Hypopla...	ORPHA:958
Thoracolaryngopelvic Dysplasia	Slender build, Irregular chondrocostal junctions, Short ribs, Metaphyseal widening, Bell-shaped t...	OMIM:187760
Ovarian Fibroma	Odontogenic keratocysts of the jaw, Gonadal calcification, Basal cell carcinoma, Ovarian fibroma,...	ORPHA:314473
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Abnormal sternum morphology, Supernumerary nipple, Micropenis, Short ribs, Congenital hypothyroid...	ORPHA:2519
H Syndrome	Amenorrhea, Short stature, Micropenis, Camptodactyly, Hallux valgus, Delayed puberty, Hypogonadis...	ORPHA:168569
46,Xy Sex Reversal 7	Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe...	OMIM:233420
Testicular Germ Cell Tumor	Azoospermia, Embryonal neoplasm, Choriocarcinoma, Teratoma	OMIM:273300
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy, Clinodactyly of the 5th finger, Syndactyly, Toe syndactyly	OMIM:601163
Mesomelic Dysplasia, Kantaputra Type	Clinodactyly of the 5th finger, Short stature, Camptodactyly of finger, Abnormality of the humeru...	ORPHA:1836
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Cone-shaped epiphyses of the phalanges of the hand, Delayed ossification of carpal bones, Narrow ...	OMIM:609616
Stevens-Johnson Syndrome	Weight loss, Abnormality of the urethra, Dyspareunia, Acantholysis	ORPHA:36426
Nevus Comedonicus Syndrome	Spina bifida, Spina bifida occulta	ORPHA:64754
Fibrochondrogenesis 1	Rhizomelia, Dumbbell-shaped long bone, Posterior rib cupping, Short long bone, Thoracic hypoplasi...	OMIM:228520
Achondrogenesis Type 1B	Narrow chest, Severe short stature, Abnormal rib morphology, Short thorax, Short foot, Disproport...	ORPHA:93298
Hypophosphatasia	Narrow chest, Short stature, Abnormal rib morphology, Bowing of the long bones, Abnormal metaphys...	ORPHA:436
Tetragametic Chimerism	Gonadal dysgenesis with female appearance, male, Micropenis, Bifid scrotum, Perineal hypospadias,...	ORPHA:199310
Vacterl/Vater Association	Hypoplasia of penis, Finger syndactyly, Bifid scrotum, Hypospadias, Abnormality of the urethra, A...	ORPHA:887
Fanconi Anemia, Complementation Group U	Chromosome breakage	OMIM:617247
Diethylstilbestrol Syndrome	Hypoplasia of the uterus, Breast carcinoma, Micropenis, Hypospadias, Melanoma, Vaginal neoplasm, ...	ORPHA:1916
Blepharophimosis, Ptosis, And Epicanthus Inversus	Amenorrhea, Female infertility, Hypoplasia of the uterus, Irregular menstruation, Increased circu...	OMIM:110100
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Metaphyseal cupping of proximal phalanges, Metaphyseal cupping, Thin ribs, Short stature, 11 pair...	OMIM:300863
Ciliary Dyskinesia, Primary, 45	Male infertility, Absent inner and outer dynein arms	OMIM:618801
Fibrous Dysplasia Of Bone	Abnormality of femur morphology, Abnormal clavicle morphology, Ovarian cyst, Abnormality of the h...	ORPHA:249
Holt-Oram Syndrome	Sprengel anomaly, Abnormal clavicle morphology, Pectus excavatum, Absent thumb, Down-sloping shou...	ORPHA:392
Currarino Syndrome	Presacral teratoma, Sepsis, Recurrent urinary tract infections	OMIM:176450
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Decreased fertility in males, Decreased circulating androgen concentration, Hypergonadotropic hyp...	ORPHA:90796
Three M Syndrome 2	Severe short stature, Thin ribs, Small for gestational age, Short stature, Short 5th finger, Pect...	OMIM:612921
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Adrenal insufficiency, Growth delay, Abnormality of the hypothalamus-pituitary axis, Hypothyroidi...	ORPHA:300298
Short Rib-Polydactyly Syndrome	Cone-shaped epiphysis, Bowing of the long bones, Intrauterine growth retardation, Short long bone...	ORPHA:1505
Late-Onset Isolated Acth Deficiency	Pituitary adenoma, Sepsis	ORPHA:199299
Vas Deferens, Congenital Bilateral Aplasia Of	Azoospermia, Male infertility, Absent vas deferens	OMIM:277180
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Femoral bowing, Cone-shaped epiphysis, Short digit, Hypoplasia of the ulna, Ambiguous genitalia, ...	OMIM:613091
Symptomatic Form Of Hemochromatosis Type 1	Amenorrhea, Infertility, Testicular atrophy, Cholangiocarcinoma, Decreased serum testosterone con...	ORPHA:465508
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Sepsis	ORPHA:247691
Sternum, Premature Obliteration Of Sutures Of	Premature sternal synostosis, Cryptorchidism, Short sternum	OMIM:184800
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