| Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
| Pa Polymorphism Of Alpha-2-Globulin |
|
Abnormal immunoglobulin level |
OMIM:260100 |
| Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
| Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
| 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 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
| 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 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 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
| Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
| Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
| Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
| Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
| 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 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
| Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
| Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
| Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
| Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
| Thrombocytopenia 7 |
|
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... |
OMIM:619130 |
| Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
| 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 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
| Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
| Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
| Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
| Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
| 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 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
| Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
| Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
| Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
| Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
| 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 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 |
| Isochromosomy Yp |
|
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... |
ORPHA:98797 |
| 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 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
| Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
| Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
| Testicular Microlithiasis |
|
Testicular microlithiasis |
OMIM:610441 |
| Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
| Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
| Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
| Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
| Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
| Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
| Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Athrombia, Essential |
|
Impaired platelet aggregation, Prolonged bleeding time, Impaired platelet adhesion |
OMIM:209050 |
| Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
| Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
| Thrombocythemia 1 |
|
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... |
OMIM:187950 |
| Isochromosomy Yq |
|
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... |
ORPHA:98798 |
| Supravalvular Aortic Stenosis |
|
Arrhythmia, Supravalvular aortic stenosis |
ORPHA:3193 |
| Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
| 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 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
| Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
| Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
| Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... |
OMIM:173590 |
| Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
| Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia |
ORPHA:231393 |
| Pseudoxanthomatous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis |
ORPHA:280794 |
| Platelet Responsiveness To Adrenaline, Depressed |
|
Impaired epinephrine-induced platelet aggregation |
OMIM:173580 |
| Testes, Rudimentary |
|
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia |
OMIM:273150 |
| Secretory Component Deficiency |
|
Secretory IgA deficiency |
OMIM:269650 |
| Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
| Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
| Glanzmann Thrombasthenia 2 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:619267 |
| Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation |
OMIM:261550 |
| Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Absent inner dynein arms, Coiled sperm flag... |
OMIM:620356 |
| Morbid Obesity And Spermatogenic Failure |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Obesity, Oligozoospermia, Increase... |
OMIM:615703 |
| 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 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
| Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
| Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome |
|
Decreased testicular size |
ORPHA:436144 |
| Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
| 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 |
| Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
| Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
| Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Arrhythmia, Sudden cardiac death |
OMIM:212500 |
| Spermatogenic Failure, X-Linked, 1 |
|
Sertoli cell-only phenotype, Obesity |
OMIM:305700 |
| Candidiasis, Familial, 1 |
|
Alopecia, Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
| Bleeding Disorder, Platelet-Type, 22 |
|
Impaired platelet aggregation |
OMIM:618462 |
| Sinoatrial Node Dysfunction And Deafness |
|
Increased heart rate variability, Abnormal QRS complex, Syncope, Bradycardia |
OMIM:614896 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 1 |
|
Right ventricular cardiomyopathy, Ventricular arrhythmia, Sudden cardiac death |
OMIM:107970 |
| Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 18 |
|
Bradycardia |
OMIM:619521 |
| Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
| Ring Chromosome Y Syndrome |
|
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... |
ORPHA:261529 |
| Inflammatory Skin And Bowel Disease, Neonatal, 1 |
|
Pustule, Paronychia, Increased circulating IgE level, Erythroderma, Failure to thrive, Blephariti... |
OMIM:614328 |
| Glanzmann Thrombasthenia 1 |
|
Prolonged bleeding time, Decreased platelet glycoprotein IIb-IIIa, Impaired ADP-induced platelet ... |
OMIM:273800 |
| Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
| Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... |
ORPHA:399805 |
| Bleeding Disorder, Platelet-Type, 18 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced ... |
OMIM:615888 |
| Bleeding Disorder, Platelet-Type, 11 |
|
Impaired collagen-induced platelet aggregation, Prolonged bleeding time, Abnormal platelet count,... |
OMIM:614201 |
| Specific Granule Deficiency 1 |
|
Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ... |
OMIM:245480 |
| Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Testicular atrophy |
ORPHA:276183 |
| Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... |
OMIM:616950 |
| Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy |
OMIM:241100 |
| Clouston Syndrome |
|
Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab... |
OMIM:129500 |
| Ventricular Fibrillation, Paroxysmal Familial, 1 |
|
Tachycardia, Syncope, Ventricular fibrillation |
OMIM:603829 |
| Immunodeficiency 86 |
|
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level |
OMIM:619549 |
| Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
| Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
| Neutrophil Immunodeficiency Syndrome |
|
Leukocytosis, Abnormality of neutrophil physiology |
ORPHA:183707 |
| Hypogonadotropic Hypogonadism 11 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614840 |
| Immunodeficiency With Hyper-Igm, Type 3 |
|
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... |
OMIM:606843 |
| Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
| Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Spermatocele, Obstructive azoospermia |
OMIM:301060 |
| Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
| Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
| Atrial Fibrillation, Familial, 18 |
|
Paroxysmal atrial fibrillation, First degree atrioventricular block, Permanent atrial fibrillatio... |
OMIM:617280 |
| Pseudoprogeria Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Sparse eyebrow, Thin skin, Decreased body weight, Spa... |
ORPHA:2985 |
| Glanzmann Thrombasthenia |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Impaired ADP-induced pla... |
ORPHA:849 |
| Kennedy Disease |
|
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Abnormal circulating lipid ... |
ORPHA:481 |
| Catecholaminergic Polymorphic Ventricular Tachycardia |
|
Syncope, Ventricular tachycardia, Sudden cardiac death |
ORPHA:3286 |
| Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... |
OMIM:619949 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Hypohidrosis, Fingernail dyspla... |
ORPHA:1660 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 2 |
|
Polymorphic ventricular tachycardia, Syncope, Ventricular tachycardia, Bradycardia |
OMIM:611938 |
| Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypopl... |
OMIM:300200 |
| Von Willebrand Disease |
|
Abnormality of thrombocytes, Abnormal platelet function |
ORPHA:903 |
| Hemosiderosis, Pulmonary, With Deficiency Of Gamma-A Globulin |
|
Decreased circulating IgA level |
OMIM:235500 |
| Immune Deficiency, Familial Variable |
|
Decreased circulating IgG level, Decreased circulating IgA level |
OMIM:146830 |
| Platelet Disorder, Undefined |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
| Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Keratitis, Scarring alopecia of scalp, Folliculitis, ... |
OMIM:612843 |
| Indolent Systemic Mastocytosis |
|
Maculopapular exanthema, Skin rash, Splenomegaly, Increased proportion of CD25+ mast cells, Masto... |
ORPHA:98848 |
| 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 |
| Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Prolonged bleeding time, Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, G... |
OMIM:155100 |
| Autosomal Recessive Spastic Paraplegia Type 46 |
|
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... |
ORPHA:320391 |
| Diethylstilbestrol Syndrome |
|
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Small for gestational age, Decrea... |
ORPHA:1916 |
| Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair |
ORPHA:55654 |
| Spermatogenic Failure 28 |
|
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... |
OMIM:618086 |
| Alopecia Universalis Congenita |
|
Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis |
OMIM:203655 |
| Cardiomyopathy, Dilated, 1P |
|
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia |
OMIM:609909 |
| Ectodermal Dysplasia 15, Hypohidrotic/Hair Type |
|
Sparse scalp hair, Sparse eyelashes, Eczema, Slow-growing hair, Hypohidrosis, Sparse hair, Blepha... |
OMIM:618535 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair |
OMIM:146550 |
| Keratosis Follicularis Spinulosa Decalvans, X-Linked |
|
Sparse eyelashes, Keratitis, Sparse eyebrow, Scarring alopecia of scalp, Folliculitis, Dystrophic... |
OMIM:308800 |
| X-Linked Intellectual Disability-Hypogonadism-Ichthyosis-Obesity-Short Stature Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Obesity, Aplasia/Hypoplasia of the testes |
ORPHA:3055 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Sparse... |
OMIM:602400 |
| Dystrophic Epidermolysis Bullosa Pruriginosa |
|
Subcutaneous nodule, Increased circulating IgE level, Atrophic scars, Nail dystrophy, Dermal atro... |
ORPHA:89843 |
| Gamma-A-Globulin, Defect In Assembly Of |
|
Decreased circulating IgA level |
OMIM:137050 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility, Elevated circulating creatine kinase concentration |
OMIM:313200 |
| Immunodeficiency With Hyper-Igm, Type 2 |
|
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... |
OMIM:605258 |
| Testicular Regression Syndrome |
|
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... |
ORPHA:983 |
| Hypotrichosis 11 |
|
Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Absent axillary hair, Sparse hair,... |
OMIM:615059 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Atrophic gastritis, Alopecia, Recurrent skin infections, Autoimmune hemolytic anemia, Recurrent p... |
OMIM:616576 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Alopecia, Abnormal fingernail morphology, Sparse eyebrow, Hypoplastic toenails, Sparse hair, Spar... |
ORPHA:2722 |
| Immunodeficiency With Hyper-Igm, Type 5 |
|
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... |
OMIM:608106 |
| Atrial Fibrillation, Familial, 15 |
|
Supraventricular tachycardia, Atrial flutter, Atrial fibrillation, Sudden cardiac death |
OMIM:615770 |
| Atrial Fibrillation, Familial, 9 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Syncope, Palpitations, Prolonged Q... |
OMIM:613980 |
| Granulomatous disease with defect in neutrophil chemotaxis |
|
Impaired neutrophil killing of staphylococci |
OMIM:233670 |
| Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Alopecia, Onychogryposis of toenails, Dermal atrophy, Alopecia of scalp, Sparse body hair, Dystro... |
OMIM:617294 |
| Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
| 46,Xx Testicular Difference Of Sex Development |
|
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries |
ORPHA:393 |
| Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
| Cardiomyopathy, Dilated, 1O |
|
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... |
OMIM:608569 |
| Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Abnormal macrophage morphology, Abnormality of neutrophils, Splenomegaly, Acute mye... |
ORPHA:2585 |
| Alopecia Universalis |
|
Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis |
ORPHA:701 |
| Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
| Alopecia Areata 2 |
|
Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis |
OMIM:610753 |
| Atrial Septal Defect 6 |
|
Atrial fibrillation, Bradycardia |
OMIM:613087 |
| Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
| Bleeding Disorder, Platelet-Type, 13, Susceptibility To |
|
Impaired thromboxane A2 agonist-induced platelet aggregation |
OMIM:614009 |
| Alopecia Areata 1 |
|
Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis |
OMIM:104000 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 3 |
|
Prolonged QT interval, Bidirectional ventricular tachycardia, Cardiac arrest, Polymorphic ventric... |
OMIM:614021 |
| Atrial Fibrillation, Familial, 4 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Permanent atrial fibrillation, Palpitations,... |
OMIM:611493 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 4 |
|
Cardiac arrest, Sudden cardiac death, Ventricular tachycardia, Premature ventricular contraction,... |
OMIM:614916 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Pustule, Paronych... |
ORPHA:37 |
| Ventricular Tachycardia, Familial |
|
Right bundle branch block, Cardiomyopathy, Paroxysmal ventricular tachycardia, Sudden cardiac death |
OMIM:192605 |
| Flotch Syndrome |
|
Sparse eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Blepharitis, Inflammat... |
ORPHA:2045 |
| Hypogonadotropic Hypogonadism 7 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... |
OMIM:146110 |
| Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Abnormal eyelash morphology, Melanocytic nevus, Periodontitis, Sparse body hai... |
ORPHA:1008 |
| Cardiomyopathy, Familial Hypertrophic, 12 |
|
Paroxysmal atrial fibrillation, Sudden cardiac death, Ventricular tachycardia, Reduced left ventr... |
OMIM:612124 |
| Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
| Long Qt Syndrome 5 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Torsade de pointes, Prolonged QTc interval, Ven... |
OMIM:613695 |
| 47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
| Olmsted Syndrome, X-Linked |
|
Posterior blepharitis, Subungual hyperkeratosis, Blepharitis, Alopecia totalis |
OMIM:300918 |
| Poikiloderma With Neutropenia |
|
Skin rash, Sparse eyebrow, Splenomegaly, Recurrent pneumonia, Nasolacrimal duct obstruction, Low ... |
OMIM:604173 |
| Cardiac Arrhythmia, Ankyrin-B-Related |
|
Prolonged QT interval, Atrial fibrillation, Sudden cardiac death, Sinus bradycardia, Syncope |
OMIM:600919 |
| Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Bone marrow hypocellularity, Poikilocytosis, Neu... |
OMIM:300835 |
| Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy |
|
Paroxysmal atrial fibrillation, Reduced systolic function, Bidirectional ventricular tachycardia,... |
OMIM:604772 |
| Pseudo-Von Willebrand Disease |
|
Prolonged bleeding time, Intermittent thrombocytopenia |
OMIM:177820 |
| Platelet Disorder, Familial, With Associated Myeloid Malignancy |
|
Acute myeloid leukemia, Prolonged bleeding time, Acute monocytic leukemia, Impaired platelet aggr... |
OMIM:601399 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 5 |
|
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... |
OMIM:604400 |
| Brugada Syndrome |
|
Tachycardia, Cardiac arrest, First degree atrioventricular block, Trifascicular block, ST segment... |
ORPHA:130 |
| Hidrotic Ectodermal Dysplasia |
|
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... |
ORPHA:189 |
| X-Linked Agammaglobulinemia |
|
Recurrent cutaneous abscess formation, Alopecia, Sinusitis, Osteomyelitis, Skin rash, Thrombocyto... |
ORPHA:47 |
| Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligozoospermia |
OMIM:314300 |
| Short Qt Syndrome 2 |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Syncope, Bradycardia, Ventricul... |
OMIM:609621 |
| Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Abnormal fingernail morphology, Eczema, Hypohidrosis, Thin skin, Sparse hair, Sparse body hair |
ORPHA:1810 |
| Brugada Syndrome 1 |
|
Atrial flutter, Atrial fibrillation, Cardiac arrest, Supraventricular tachycardia with an accesso... |
OMIM:601144 |
| Mast Cell Sarcoma |
|
Mastocytosis, Splenomegaly, Weight loss |
ORPHA:66661 |
| X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
| Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
| Mastocytosis, Cutaneous |
|
Cutaneous mastocytosis |
OMIM:154800 |
| Dermoodontodysplasia |
|
Thin skin, Nail dysplasia, Trichodysplasia |
OMIM:125640 |
| Familial Short Qt Syndrome |
|
Atrial fibrillation, Sudden cardiac death, Shortened QT interval, Atrioventricular block, Syncope... |
ORPHA:51083 |
| Hermansky-Pudlak Syndrome 9 |
|
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia |
OMIM:614171 |
| Reticular Dysgenesis |
|
Impaired T cell function, Lack of T cell function |
OMIM:267500 |
| Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Absent eyelashes, Lacrimal duct atresia... |
OMIM:106260 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death, Eosinophilia, Neutropenia |
OMIM:257100 |
| Cardiomyopathy, Dilated, 1G |
|
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... |
OMIM:604145 |
| T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Alopecia, Failure to thrive, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
ORPHA:169154 |
| Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
| Immunodeficiency 11A |
|
Agammaglobulinemia, Reduced antigen-specific T cell proliferation, Decreased circulating antibody... |
OMIM:615206 |
| Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin, Sparse hair, Failure to thrive, Aplasia/Hypoplasia of the eyebrow |
ORPHA:261304 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair |
ORPHA:505 |
| Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hepatosplenomegaly, Hemophagocytosis, Death in childhood, Reduced delayed hyper... |
OMIM:607624 |
| Dyskeratosis Congenita |
|
Abnormality of neutrophils, White hair, Hyperhidrosis, Premature graying of hair, Periodontitis, ... |
ORPHA:1775 |
| Aggressive Systemic Mastocytosis |
|
Pancytopenia, Maculopapular exanthema, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplen... |
ORPHA:98850 |
| Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Erythematous macule, Alopecia, ... |
OMIM:615559 |
| Kid Syndrome |
|
Angular cheilitis, Posterior blepharitis, Scarring alopecia of scalp, Recurrent cutaneous fungal ... |
ORPHA:477 |
| Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testos... |
OMIM:308700 |
| Spermatogenic Failure 14 |
|
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... |
OMIM:615842 |
| Ifap Syndrome 2 |
|
Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca, Nail dystrophy, ... |
OMIM:619016 |
| Immunodeficiency, Common Variable, 3 |
|
Decreased proportion of class-switched memory B cells, Decreased circulating total IgM, Reduced i... |
OMIM:613493 |
| Focal Facial Dermal Dysplasia Type Iv |
|
Abnormal mast cell morphology, Nevus |
ORPHA:398189 |
| Lichen Planus Pemphigoides |
|
Skin vesicle, Conjunctivitis, Abnormality of the nail, Blepharitis |
ORPHA:254478 |
| Short Qt Syndrome 3 |
|
Shortened QT interval, Tachycardia, Palpitations |
OMIM:609622 |
| Precocious Puberty, Male-Limited |
|
Decreased testicular size, Precocious puberty in males |
OMIM:176410 |
| Perifolliculitis Capitis Abscedens Et Suffodiens, Familial |
|
Alopecia, Perifolliculitis, Alopecia of scalp |
OMIM:260910 |
| 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 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... |
OMIM:229070 |
| Alpha-Heavy Chain Disease |
|
Splenomegaly, Alopecia, Dysgammaglobulinemia, Anemia |
ORPHA:100025 |
| Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... |
OMIM:301077 |
| Necrobiosis Lipoidica |
|
Inflammatory abnormality of the skin, Indurated nodule, Skin nodule, Skin ulcer, Atrophic scars, ... |
ORPHA:542592 |
| Long Qt Syndrome 9 |
|
Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Syncope, Abnormal U wave, Ventricular a... |
OMIM:611818 |
| Immunodeficiency 46 |
|
Chronic oral candidiasis, Intermittent thrombocytopenia, Decreased circulating antibody level, Co... |
OMIM:616740 |
| Microphthalmia, Isolated 4 |
|
Absent testis |
OMIM:613094 |
| Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Increased mitochondrial number, Mildly elevated creatine kinase |
ORPHA:457050 |
| Sea-Blue Histiocytosis |
|
Splenomegaly, Subcutaneous nodule, Sea-blue histiocytosis, Blepharitis, Thrombocytopenia |
ORPHA:158029 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Sparse hair, Alopecia, Thin toenail, Dystrophic toenail |
OMIM:614928 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Pneumonia, Purulent rhinitis, Arthritis, T lymphocytopenia, Conjunctivitis, B lymphocytopenia, Ot... |
OMIM:601457 |
| Kerion Celsi |
|
Alopecia, Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent ... |
ORPHA:499 |
| Parc Syndrome |
|
Absent eyelashes, Absent eyebrow, Alopecia |
OMIM:600331 |
| Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Cutaneous anergy |
OMIM:183350 |
| 46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency |
|
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... |
ORPHA:753 |
| Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypog... |
OMIM:308750 |
| Bleeding Disorder, Platelet-Type, 8 |
|
Impaired ADP-induced platelet aggregation |
OMIM:609821 |
| Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis |
|
Failure to thrive, Psoriasiform dermatitis, Blepharitis |
OMIM:616834 |
| Long Qt Syndrome 6 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613693 |
| Incessant Infant Ventricular Tachycardia |
|
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Conge... |
ORPHA:45453 |
| Immunodeficiency, Common Variable, 1 |
|
Pneumonia, Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Neutropen... |
OMIM:607594 |
| Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... |
OMIM:616117 |
| Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia |
|
Upslanted palpebral fissure, Epicanthus, Cutaneous mastocytosis |
OMIM:248910 |
| Gray Platelet Syndrome |
|
Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Abnormal number of alpha... |
OMIM:139090 |
| Long Qt Syndrome 15 |
|
Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard... |
OMIM:616249 |
| Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
|
Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis |
ORPHA:169095 |
| Congenital Heart Defects And Ectodermal Dysplasia |
|
Medial flaring of the eyebrow, Sparse scalp hair, Thin skin, High anterior hairline, Fragile nails |
OMIM:617364 |
| Oliver-Mcfarlane Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
OMIM:275400 |
| Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness |
|
Prolonged QT interval, Shock, Cardiac arrest, Polymorphic ventricular tachycardia, Premature vent... |
OMIM:615441 |
| Absence Of Fingerprints-Congenital Milia Syndrome |
|
Milia, Skin rash, Thin skin, Hypohidrosis |
ORPHA:1658 |
| Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
|
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Atrioventricular block, Complete heart block with narrow QRS complexes, Sin... |
OMIM:140400 |
| Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
| Agammaglobulinemia 6, Autosomal Recessive |
|
Recurrent pneumonia, Abnormal T cell morphology, Agammaglobulinemia, Decreased circulating total ... |
OMIM:612692 |
| Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
| Acrogeria |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer, Fine hair |
ORPHA:2500 |
| Autosomal Dominant Deafness-Onychodystrophy Syndrome |
|
Hypoplastic toenails, Absent thumbnail, Absent toenail, Absent fingernail, Aplasia cutis congenit... |
ORPHA:79499 |
| Ventricular Arrhythmias Due To Cardiac Ryanodine Receptor Calcium Release Deficiency Syndrome |
|
Left ventricular noncompaction cardiomyopathy, Sudden cardiac death, Torsade de pointes, Ventricu... |
OMIM:115000 |
| Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
| Long Qt Syndrome 2 |
|
Prolonged QT interval, Cardiac arrest, Sudden cardiac death, Syncope, Torsade de pointes, Prolong... |
OMIM:613688 |
| Hypohidrotic Ectodermal Dysplasia |
|
Abnormal hair quantity, Sinusitis, Slow-growing hair, Eczema, Trichorrhexis nodosa, Xerostomia, H... |
ORPHA:238468 |
| Alopecia Totalis |
|
Alopecia, Alopecia of scalp |
ORPHA:700 |
| Alopecia-Intellectual Disability Syndrome 1 |
|
Alopecia, Alopecia universalis |
OMIM:203650 |
| Wolff-Parkinson-White Syndrome |
|
Wolff-Parkinson-White syndrome, Atrial flutter, Paroxysmal atrial fibrillation, Prolonged QRS com... |
OMIM:194200 |
| Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections |
|
Alopecia, Osteomyelitis, Recurrent skin infections, Eczema, Eosinophilia, Recurrent pneumonia, In... |
OMIM:618282 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 6 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Premature ventricular contraction |
OMIM:604401 |
| Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Small for gestational age, Eczema, Failure to thrive in infancy, Decreased proportion of CD8-posi... |
OMIM:617241 |
| Wiskott-Aldrich Syndrome 2 |
|
Defective T cell proliferation, Reduced natural killer cell activity |
OMIM:614493 |
| Immunodeficiency, Common Variable, 10 |
|
Trachyonychia, Psoriasiform dermatitis, Alopecia totalis, Decreased response to growth hormone st... |
OMIM:615577 |
| Long Qt Syndrome 8 |
|
Sudden cardiac death, Sinus bradycardia, Syncope, Aborted sudden cardiac death, Prolonged QTc int... |
OMIM:618447 |
| Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Abnormally low T cell receptor excision circle leve... |
OMIM:619374 |
| Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Elevated creatine kinase after exercise, Decreased mitochondrial number, Slender build |
ORPHA:352470 |
| B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Epicanthus, Telecanthus, Sparse eyelashes, Sparse eyebrow, Atypical scarring o... |
ORPHA:75496 |
| Short Qt Syndrome 1 |
|
Paroxysmal atrial fibrillation, Cardiac arrest, Sudden cardiac death, Shortened QT interval, Sync... |
OMIM:609620 |
| Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Alopecia totalis, Abnormality of the nail, Death in childhood |
OMIM:302000 |
| Immunodeficiency, Common Variable, 14 |
|
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... |
OMIM:617765 |
| Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recu... |
OMIM:240500 |
| Platelet Glycoprotein Iv Deficiency |
|
Prolonged bleeding time, Giant platelets, Thrombocytopenia |
OMIM:608404 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Macule, Alopecia, Entropion, Hypermelanotic macule, Keratitis, Hypop... |
ORPHA:910 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Cardiomyopathy, Dilated, 1E |
|
Atrial flutter, Atrial fibrillation, Reduced systolic function, Atrial standstill, Dilated cardio... |
OMIM:601154 |
| Hypogonadotropic Hypogonadism 14 With Or Without Anosmia |
|
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea |
OMIM:614858 |
| Localized Dystrophic Epidermolysis Bullosa, Acral Form |
|
Recurrent loss of toenails and fingernails, Crusting erythematous dermatitis, Erythematous plaque... |
ORPHA:158673 |
| Immunodeficiency 32B |
|
Neutrophilia, Sinusitis, Pneumonia, Eosinophilia, Thrombocytopenia, Splenomegaly, Bronchiectasis,... |
OMIM:226990 |
| Lead Poisoning |
|
Decreased HDL cholesterol concentration, Decreased female libido, Small for gestational age, Abno... |
ORPHA:330015 |
| Hemochromatosis, Type 1 |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Increased circulating ferritin concentration, A... |
OMIM:235200 |
| Bernard-Soulier Syndrome |
|
Prolonged bleeding time, Impaired ristocetin-induced platelet aggregation, Giant platelets, Macro... |
OMIM:231200 |
| Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Inflammatory abnormality of the skin, Sinusitis, Failure to thrive, Recurrent pneumonia, Increase... |
ORPHA:277 |
| Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked |
|
Alopecia, Glomerulonephritis, Eczema, Autoimmune thrombocytopenia, Eosinophilia, Thrombocytopenia... |
OMIM:304790 |
| Brugada Syndrome 9 |
|
Prolonged QT interval, ST segment elevation, Palpitations, Presyncope |
OMIM:616399 |
| Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Alopecia, Hypermelanotic macule, Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, N... |
ORPHA:79397 |
| Atrial Fibrillation, Familial, 7 |
|
Paroxysmal atrial fibrillation, Permanent atrial fibrillation, Prolonged QTc interval, Sinus brad... |
OMIM:612240 |
| Ventricular Fibrillation, Paroxysmal Familial, 2 |
|
Ventricular fibrillation, Sudden cardiac death, Premature ventricular contraction |
OMIM:612956 |
| Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Abnormal sweat gland morphology, Ab... |
OMIM:607823 |
| Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Failure to thrive, Downslanted palpebral fissures, Thin skin |
ORPHA:157965 |
| Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... |
ORPHA:90797 |
| Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
| Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... |
OMIM:153670 |
| Cardiomyopathy, Dilated, 2F |
|
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... |
OMIM:619747 |
| Long Qt Syndrome 12 |
|
Syncope, Prolonged QTc interval, Ventricular fibrillation, Torsade de pointes |
OMIM:612955 |
| Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome |
|
Alopecia, Small for gestational age, Decreased response to growth hormone stimulation test, Long ... |
ORPHA:3363 |
| 19Q13.11 Microdeletion Syndrome |
|
Supernumerary nipple, Cachexia, Fine hair, Sparse or absent eyelashes, Thin skin, Nail dysplasia,... |
ORPHA:217346 |
| 17Q23.1Q23.2 Microdeletion Syndrome |
|
Epicanthus, Sacral dimple, Highly arched eyebrow, Long eyelashes, Chronic otitis media, Failure t... |
ORPHA:261279 |
| Progressive Familial Heart Block, Type Ib |
|
Prolonged QT interval, Shortened PR interval, Atrioventricular block, Right bundle branch block, ... |
OMIM:604559 |
| Myeloma, Multiple |
|
Paraproteinemia |
OMIM:254500 |
| Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
|
Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
| Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Premature ovarian insufficiency, Elevated circulating creatine kinase concentration, Female infer... |
OMIM:619518 |
| Hypogonadotropic Hypogonadism 4 With Or Without Anosmia |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Obesity, Primary amenorrhea, Ab... |
OMIM:610628 |
| Focal Facial Dermal Dysplasia Type I |
|
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Atrophic scars, Skin dimple, Sp... |
ORPHA:79133 |
| Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
| Bleeding Disorder, Platelet-Type, 17 |
|
Prolonged bleeding time, Increased RBC distribution width, Macrothrombocytopenia, Absence of alph... |
OMIM:187900 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod... |
OMIM:602032 |
| Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
|
Hemolytic anemia, Autoimmune hemolytic anemia, Psoriasiform dermatitis, Decreased proportion of C... |
OMIM:606367 |
| Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... |
ORPHA:90793 |
| Quebec Platelet Disorder |
|
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation |
OMIM:601709 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 8 |
|
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... |
OMIM:607450 |
| Rapp-Hodgkin Syndrome |
|
Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebro... |
OMIM:129400 |
| Thanatophoric Dysplasia, Glasgow Variant |
|
Neonatal death, Anemia, Hepatosplenomegaly |
OMIM:273680 |
| Fibrodysplasia Ossificans Progressiva |
|
Failure to thrive, Alopecia, Subcutaneous nodule, Anemia |
ORPHA:337 |
| 46,Xy Partial Gonadal Dysgenesis |
|
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... |
ORPHA:251510 |
| Sick Sinus Syndrome 1 |
|
Prolonged QT interval, Ventricular escape rhythm, Absent P wave, Atrioventricular block, Sinus br... |
OMIM:608567 |
| Eec Syndrome |
|
Entropion, Slow-growing hair, Aplasia/Hypoplasia of the skin, Decreased response to growth hormon... |
ORPHA:1896 |
| Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia... |
OMIM:612650 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Complete Androgen Insensitivity Syndrome |
|
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... |
ORPHA:99429 |
| Prolactin Deficiency With Obesity And Enlarged Testes |
|
Macroorchidism, Obesity, Reduced circulating prolactin concentration |
OMIM:264120 |
| Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... |
OMIM:614837 |
| T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
|
Ridged nail, Alopecia, Decreased helper T cell proportion, Nail pits, T lymphocytopenia, Nail dys... |
OMIM:601705 |
| Sézary Syndrome |
|
Alopecia, Abnormal immunoglobulin level, Splenomegaly, Nail dystrophy, Erythroderma, Abnormal lym... |
ORPHA:3162 |
| Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... |
ORPHA:91351 |
| Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
| Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Stillbirth, Thin skin |
OMIM:259410 |
| Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm |
OMIM:614874 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod... |
ORPHA:3361 |
| Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
| Hypotrichosis Simplex Of The Scalp |
|
Abnormal eyebrow morphology, Sparse scalp hair, Allergic rhinitis, Absent facial hair, Abnormalit... |
ORPHA:90368 |
| Ataxia-Telangiectasia |
|
Hypopigmentation of hair, Aplasia/Hypoplasia of the skin, Failure to thrive, Decreased circulatin... |
ORPHA:100 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Decreased HDL cholesterol concentration, Decreased circulating apolipoprotein A... |
ORPHA:85450 |
| Classic Mycosis Fungoides |
|
Alopecia, Skin rash, Eczema, Abnormal eyelid morphology, Splenomegaly, Hypopigmented skin patches... |
ORPHA:2584 |
| Brugada Syndrome 6 |
|
ST segment elevation, Ventricular fibrillation, Cardiac arrest |
OMIM:613119 |
| Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyebrow, Hypothyroidism, Fine hair, Melanocytic nevus, Hypohi... |
ORPHA:1882 |
| 46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... |
ORPHA:752 |
| Brugada Syndrome 8 |
|
Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Premature Ovarian Failure 10 |
|
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... |
OMIM:612885 |
| Hennekam-Beemer Syndrome |
|
Macule, Pneumonia, Mastocytosis, Subcutaneous nodule, Upslanted palpebral fissure, Skin vesicle, ... |
ORPHA:2135 |
| Short Qt Syndrome 7 |
|
Cardiac arrest, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular fibrillation |
OMIM:620231 |
| Bullous Diffuse Cutaneous Mastocytosis |
|
Cutaneous mastocytosis, Erythroderma |
ORPHA:280785 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Nasolacrimal duct obstruction, Nail pits, Fine hair, ... |
ORPHA:978 |
| Long Qt Syndrome 3 |
|
Ventricular flutter, Sudden cardiac death, Ventricular tachycardia, Syncope, Torsade de pointes, ... |
OMIM:603830 |
| Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
| Hermansky-Pudlak Syndrome 3 |
|
Impaired platelet aggregation, Abnormal number of dense granules |
OMIM:614072 |
| Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
| L-Ferritin Deficiency |
|
Alopecia |
OMIM:615604 |
| Adult Syndrome |
|
Sparse scalp hair, Absent nipple, Fair hair, Eczema, Sparse axillary hair, Nasolacrimal duct obst... |
OMIM:103285 |
| Erythrokeratodermia Variabilis |
|
Macule, Alopecia, Skin rash, Hypermelanotic macule, Abnormal hair morphology, Weight loss, Abnorm... |
ORPHA:317 |
| Pili Torti-Onychodysplasia Syndrome |
|
Absent eyebrow, Alopecia, Brittle hair, Eczema, Absent eyelashes, Nail dystrophy, Trichodysplasia... |
ORPHA:2890 |
| Wiskott-Aldrich Syndrome |
|
Sinusitis, Abnormal eosinophil morphology, Microcytic anemia, Inflammation of the large intestine... |
ORPHA:906 |
| Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
| Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Splenomegaly, Crusting erythemato... |
ORPHA:742 |
| Alopecia, Familial Focal |
|
Patchy alopecia |
OMIM:104110 |
| Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome |
|
Alopecia totalis |
ORPHA:1014 |
| Alopecia, Androgenetic, 1 |
|
Alopecia |
OMIM:109200 |
| Alopecia-Intellectual Disability Syndrome 3 |
|
Alopecia universalis |
OMIM:613930 |
| Alopecia-Intellectual Disability Syndrome 2 |
|
Alopecia universalis |
OMIM:610422 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Presyncope,... |
OMIM:618920 |
| Androgen Insensitivity, Partial |
|
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... |
OMIM:312300 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Hyperglycinemia |
OMIM:619063 |
| Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
| Von Willebrand Disease, Type 3 |
|
Prolonged bleeding time, Impaired platelet aggregation, Thrombocytopenia |
OMIM:277480 |
| Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
| Myotonic Dystrophy 2 |
|
Elevated circulating creatine kinase concentration, Oligozoospermia, Hypogonadism, Type II diabet... |
OMIM:602668 |
| Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Eunuchoid habitus, Hypergonadotropic hypogonadism... |
ORPHA:91 |
| Thumb Deformity And Alopecia |
|
Alopecia |
OMIM:188150 |
| Dyskeratosis Congenita, X-Linked |
|
Acute myeloid leukemia, Ridged nail, Alopecia, Pancytopenia, Sparse eyelashes, Split nail, Thromb... |
OMIM:305000 |
| X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism, Obesity |
ORPHA:85286 |
| Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Abnormal mitochondrial morphology |
OMIM:300438 |
| Familial Partial Lipodystrophy, Dunnigan Type |
|
Aplasia/Hypoplasia of the skin, Splenomegaly, Pancreatitis, Generalized hirsutism, Xanthomatosis,... |
ORPHA:2348 |
| Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
| Sick Sinus Syndrome 4 |
|
Sinoatrial block, Chronotropic incompetence, Abnormal QT interval, Paroxysmal atrial fibrillation... |
OMIM:619464 |
| Immunodeficiency 64 With Lymphoproliferation |
|
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos... |
OMIM:618534 |
| Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Elevated circulating sit... |
OMIM:210250 |
| Atopic Keratoconjunctivitis |
|
Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, B... |
ORPHA:163934 |
| Ciliary Dyskinesia, Primary, 45 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:618801 |
| Limb-Mammary Syndrome |
|
Absent lacrimal punctum, Alopecia, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Ab... |
ORPHA:69085 |
| Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Alopecia, Hypopigmented skin patches, Fingernail dysplasia, Sparse hair, Onychogryposis of finger... |
ORPHA:2251 |
| Dyskeratosis Congenita, Digenic |
|
Alopecia, Failure to thrive, Sparse eyelashes, Bilateral ptosis, Decreased circulating total IgM,... |
OMIM:620040 |
| Brugada Syndrome 3 |
|
Atrial fibrillation, J wave, Sudden cardiac death, Shortened QT interval, Syncope, Ventricular ar... |
OMIM:611875 |
| Ulerythema Ophryogenesis |
|
Miscarriage, Acne, Hyperkeratotic papule, Dermal atrophy, Erythematous papule, Contact dermatitis... |
ORPHA:3406 |
| Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... |
OMIM:614897 |
| Pseudopelade Of Brocq |
|
Sparse scalp hair, Alopecia, Recurrent skin infections, Abnormal hair morphology, Cheilitis, Papu... |
ORPHA:129 |
| Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Nail dystrophy, Milia, Aplasia cutis congenita, Anony... |
ORPHA:79402 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, T-wave alternans, Bradycardia |
OMIM:618782 |
| Bleeding Disorder, Platelet-Type, 12 |
|
Impaired platelet aggregation |
OMIM:605735 |
| 46,Xy Complete Gonadal Dysgenesis |
|
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries |
ORPHA:242 |
| Chronic Atrial And Intestinal Dysrhythmia |
|
Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Mitral regurgitation, Sick sinus ... |
OMIM:616201 |
| Arthrochalasia Ehlers-Danlos Syndrome |
|
Epicanthus, Thin skin |
ORPHA:1899 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
| Immunodeficiency With Hyper-Igm, Type 1 |
|
Decreased circulating IgE, Neutropenia, Decreased circulating IgG level, Hemolytic anemia, Hepati... |
OMIM:308230 |
| Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Cigarette-paper scars, Downslanted palpebral fissures, Thin skin, Webbed neck |
OMIM:612350 |
| Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Pneumonia, Widow's peak, Periodontitis, Reduction of neutrophil motility, Recurrent... |
OMIM:266265 |
| 46,Xy Sex Reversal 10 |
|
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... |
OMIM:616425 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hepatitis, Hypopigmented skin patches, Skin ulcer, Onyc... |
ORPHA:525 |
| Hypogonadotropic Hypogonadism 22 With Or Without Anosmia |
|
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... |
OMIM:616030 |
| Leydig Cell Hypoplasia |
|
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... |
ORPHA:755 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... |
OMIM:600858 |
| Silver-Russell Syndrome 2 |
|
Thin skin, Hyperhidrosis |
OMIM:618905 |
| Flynn-Aird Syndrome |
|
Alopecia, Alopecia of scalp, Dermal atrophy |
OMIM:136300 |
| Myotonic Dystrophy 1 |
|
Hypogonadism, Cholelithiasis, Testicular atrophy |
OMIM:160900 |
| Epidermolysis Bullosa Simplex With Anodontia/Hypodontia |
|
Sparse scalp hair, Alopecia, Abnormal fingernail morphology, Hypoplastic toenails, Fingernail dys... |
ORPHA:2325 |
| Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
| Cardiomyopathy, Dilated, 1A |
|
Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, C... |
OMIM:115200 |
| Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... |
OMIM:614841 |
| Pparg-Related Familial Partial Lipodystrophy |
|
Aplasia/Hypoplasia of the skin, Splenomegaly, Generalized hirsutism, Xanthomatosis, Thin skin, Pa... |
ORPHA:79083 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
| Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Epicanthus, Supernumerary nipple, Abnormal eyelid morphology, Hypothyroidism, Fine hair, Aplastic... |
ORPHA:1812 |
| Juvenile Hyaline Fibromatosis |
|
Death in infancy, Aplasia/Hypoplasia of the skin, Abnormal hair morphology, Subcutaneous nodule, ... |
ORPHA:2028 |
| Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Sinusitis, Skin rash, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmu... |
ORPHA:572 |
| Classic Galactosemia |
|
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... |
ORPHA:79239 |
| Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
| Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Ptosis, Epicanthus, Curly hair, Lacrimal duct stenosis, Slow-growing hair, High... |
OMIM:617506 |
| 46,Xx Sex Reversal 4 |
|
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... |
OMIM:617480 |
| Moynahan Syndrome |
|
Sparse hair, Alopecia, Cachexia |
ORPHA:2574 |
| Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:601859 |
| X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
| 46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
| Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Eczema, Lymphadenitis, Leukocytosis, Splenomegaly, Inflammation of the large intestine, Nail dyst... |
OMIM:615895 |
| Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Recurrent bacterial skin infections, Hypopigmentation of hair, Pan... |
ORPHA:167 |
| Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Sparse hair, Failure to thrive, Thin skin |
OMIM:219150 |
| Focal Facial Dermal Dysplasia Type Iii |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Sparse lower eyelashes, Highly arched eyebrow, Abnorm... |
ORPHA:1807 |
| Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
| Tularemia |
|
Brain abscess, Skin rash, Pneumonia, Erythema nodosum, Thrombocytopenia, Leukocytosis, Localized ... |
ORPHA:3392 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Decreased mitochondrial number, Hypergonadotropic hypogonadism, Elevated circulating creatine kin... |
ORPHA:352447 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Increased circulating ferritin ... |
ORPHA:465508 |
| Recon Progeroid Syndrome |
|
Thrombocytopenia, Hirsutism, Hyperconvex thumb nails, Absent lower eyelashes, Keratoconjunctiviti... |
OMIM:620370 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Telecanthus, Sparse eyelashes, Decreased response to growth hormone stimulatio... |
OMIM:129900 |
| Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
| Pili Torti |
|
Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ... |
ORPHA:2889 |
| Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
|
Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
| Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
|
Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
| Candidiasis, Familial, 8 |
|
Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis |
OMIM:615527 |
| Crandall Syndrome |
|
Alopecia, Brittle hair, Fine hair, Sparse body hair, Pili torti, Aplasia/Hypoplasia of the eyebrow |
ORPHA:202 |
| Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent eyebrow, Anhidrosis, Brittle hair, Sparse eyelashes, Eczema, Absent nipple, Concave nail, ... |
OMIM:305100 |
| Neonatal Inflammatory Skin And Bowel Disease |
|
Recurrent bacterial skin infections, Chapped lip, Psoriasiform dermatitis, Pustule, Horizontal ey... |
ORPHA:294023 |
| Moebius Syndrome |
|
Death in infancy, Epicanthus, Breast aplasia, Multiple cafe-au-lait spots, Blepharitis, Ptosis |
ORPHA:570 |
| Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Ambiguous genitalia, female, Ambiguous genitalia, male, Inc... |
ORPHA:90791 |
| Cortisone Reductase Deficiency 1 |
|
Alopecia, Acne, Obesity, Hirsutism |
OMIM:604931 |
| Autosomal Agammaglobulinemia |
|
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Bronchiectasis, Hepat... |
ORPHA:33110 |
| Fetal Encasement Syndrome |
|
Thin skin |
OMIM:613630 |
| Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome |
|
Alopecia, Psoriasiform dermatitis, Severe B lymphocytopenia, Alopecia totalis, Decreased circulat... |
ORPHA:293978 |
| Ciliary Dyskinesia, Primary, 22 |
|
Absent inner and outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615444 |
| Quinquaud Folliculitis Decalvans |
|
Recurrent skin infections, Pustule, Scarring alopecia of scalp, Abnormal hair morphology, Patchy ... |
ORPHA:346 |
| Nicolaides-Baraitser Syndrome |
|
Alopecia, Eczema, Curly eyelashes, Highly arched eyebrow, Abnormal hair pattern, Long eyelashes, ... |
ORPHA:3051 |
| Spastic Paraplegia Type 7 |
|
Abnormal mitochondrial morphology |
ORPHA:99013 |
| Sick Sinus Syndrome 2 |
|
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... |
OMIM:163800 |
| Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy |
OMIM:613987 |
| Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Epicanthus, Synophrys, Widow's peak, Upper eyelid edema, Thin skin, Thin eyebrow, Cafe-au-lait sp... |
OMIM:617804 |
| Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets |
|
Decreased circulating 12-HETE, Iron deficiency anemia, Decreased serum thromboxane B2, Impaired p... |
OMIM:618372 |
| Marie Unna Hereditary Hypotrichosis |
|
Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e... |
ORPHA:444 |
| Hepatoerythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Scarring alopecia of scalp, Erythroid hype... |
ORPHA:95159 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Ptosis, Alopecia, Aplasia/Hypoplasia of the skin, Hyperconvex fingernails, Dermal atrophy, Skin v... |
ORPHA:257 |
| Systemic Lupus Erythematosus 17 |
|
Lymphopenia, Alopecia, Autoimmune thrombocytopenia, Thrombocytopenia, Leukopenia, Optic neuritis,... |
OMIM:301080 |
| Atrial Tachyarrhythmia With Short Pr Interval |
|
Paroxysmal atrial tachycardia, Permanent atrial fibrillation, Paroxysmal atrial fibrillation, Sho... |
OMIM:108950 |
| Ectodermal Dysplasia-Syndactyly Syndrome 1 |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h... |
OMIM:613573 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercortisolism, Pancr... |
OMIM:610475 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Myositis, Tubulointerstitial nephritis, Iron deficiency anemia, Colitis, Neutropenia, Hypothyroid... |
ORPHA:37042 |
| Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
| Leukonychia Totalis |
|
Abnormal eyelash morphology, Abnormal fingernail morphology, Blepharitis, Abnormal toenail morpho... |
ORPHA:2387 |
| Cronkhite-Canada Syndrome |
|
Alopecia, Abnormal fingernail morphology, Cachexia, Hypoplastic toenails, Splenomegaly, Anemia, D... |
ORPHA:2930 |
| 46,Xy Sex Reversal 8 |
|
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia |
OMIM:614279 |
| Hermansky-Pudlak Syndrome 7 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:614076 |
| Congenital Erythropoietic Porphyria |
|
Recurrent bacterial skin infections, Hemolytic anemia, Reticulocytosis, Anisocytosis, Scarring al... |
ORPHA:79277 |
| Hermansky-Pudlak Syndrome 5 |
|
Prolonged bleeding time, Absent platelet dense granules, Impaired ADP-induced platelet aggregatio... |
OMIM:614074 |
| Ehlers-Danlos Syndrome, Cardiac Valvular Type |
|
Atrophic scars, Thin skin |
OMIM:225320 |
| Autosomal Recessive Hypohidrotic Ectodermal Dysplasia |
|
Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Hypohidrosis, Abno... |
ORPHA:248 |
| Epidermolysis Bullosa, Junctional 1B, Severe |
|
Death in infancy, Congenital localized absence of skin, Atrophic scars, Nail dystrophy, Nail dysp... |
OMIM:226700 |
| Atrial Fibrillation, Familial, 10 |
|
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Permanent atrial fibrill... |
OMIM:614022 |
| Congenital Ichthyosiform Erythroderma |
|
Alopecia, Keratitis, Hypohidrosis, Erythroderma, Failure to thrive, Abnormality of the nail, Ectr... |
ORPHA:79394 |
| Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... |
ORPHA:2239 |
| Exostoses With Anetodermia And Brachydactyly, Type E |
|
Dermal atrophy |
OMIM:133690 |
| Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia, Failure to th... |
OMIM:614813 |
| Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Sparse eyelashes, Lacrimal duct stenosis, Sparse axillary hair, Decreased resp... |
OMIM:604292 |
| Kaufman Oculocerebrofacial Syndrome |
|
Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Sparse hair, Thin skin, Ble... |
OMIM:244450 |
| Marshall-Smith Syndrome |
|
Failure to thrive, Generalized hirsutism, Thin skin |
ORPHA:561 |
| Immunodeficiency, Common Variable, 8, With Autoimmunity |
|
Atrophic gastritis, Uveitis, Inflammation of the large intestine, Colitis, Conjunctivitis, Decrea... |
OMIM:614700 |
| Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive |
|
Alopecia, Nail dystrophy |
OMIM:616487 |
| Roifman Syndrome |
|
Eczema, Eosinophilia, Hyperconvex nail, Recurrent pneumonia, Prominent eyelashes, Hepatosplenomeg... |
ORPHA:353298 |
| Juvenile Xanthogranuloma |
|
Uveitis, Myeloproliferative disorder, Iritis, Multiple cafe-au-lait spots, Blepharitis |
ORPHA:158000 |
| Hypotrichosis 5 |
|
Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs... |
OMIM:612841 |
| Ciliary Dyskinesia, Primary, 9 |
|
Male infertility, Absent outer dynein arms |
OMIM:612444 |
| Pachyonychia Congenita |
|
Alopecia, Epidermoid cyst, Angular cheilitis, Paronychia, Onychogryposis of toenails, Fingernail ... |
ORPHA:2309 |
| Agammaglobulinemia 1, Autosomal Recessive |
|
Recurrent pneumonia, Neutropenia, Bronchiectasis, Decreased circulating antibody level, Agammaglo... |
OMIM:601495 |
| Oculocerebrocutaneous Syndrome |
|
Alopecia, Eyelid coloboma, Orbital cyst, Focal dermal aplasia/hypoplasia |
OMIM:164180 |
| Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Skin rash, Recurrent pneumonia, Decreased mean platelet volume, Inflammation of the large intesti... |
OMIM:617718 |
| Mogs-Cdg |
|
Decreased circulating IgG level, Alopecia, Thrombocytopenia, Hypothyroidism, Hepatosplenomegaly, ... |
ORPHA:79330 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Aplasia cutis congenita on trunk or limbs, Recurrent skin infections, Onychogryposis, D... |
ORPHA:79396 |
| Porokeratosis Of Mibelli |
|
Aplasia/Hypoplasia of the skin |
ORPHA:735 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thrombocytopenia, Fine hair, Premature graying of hair, Nail dystrophy, Bone marrow hypocellulari... |
OMIM:612199 |
| Localized Junctional Epidermolysis Bullosa |
|
Sparse axillary hair, Sparse pubic hair, Scarring alopecia of scalp, Atrophic, patchy alopecia, A... |
ORPHA:251393 |
| Autoimmune Polyendocrinopathy Type 4 |
|
Atrophic gastritis, Alopecia, Macrocytic anemia, Autoimmune thrombocytopenia, Iridocyclitis, Xero... |
ORPHA:227990 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome |
|
Epicanthus, Hyperpigmented/hypopigmented macules, Synophrys, Upslanted palpebral fissure, Blephar... |
ORPHA:280633 |
| Monilethrix |
|
Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercortisolism, Stria... |
OMIM:219080 |
| Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Failure ... |
OMIM:600802 |
| Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Aplasia/Hypoplasia of the skin, Alopecia totalis, Subcutaneous nodule, Atypical scarring of skin,... |
ORPHA:1366 |
| Zellweger-Like Syndrome Without Peroxisomal Anomalies |
|
Alopecia, Epicanthus, Brittle hair, Upslanted palpebral fissure, Failure to thrive |
ORPHA:50812 |
| Autoimmune Polyendocrinopathy Type 3 |
|
Atrophic gastritis, Alopecia, Macrocytic anemia, Autoimmune hypoparathyroidism, Autoimmune thromb... |
ORPHA:227982 |
| Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
|
Lymphopenia, Abnormal B cell count, Abnormal T cell count, Skin rash, Autoimmune hemolytic anemia... |
ORPHA:331206 |
| Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... |
OMIM:305400 |
| Congenital Disorder Of Glycosylation, Type Iif |
|
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia |
OMIM:603585 |
| Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Reduced sperm motility |
OMIM:615434 |
| Tooth Agenesis, Selective, 4 |
|
Sparse scalp hair, Sparse eyebrow, Hypohidrosis, Short eyelashes, Thin skin, Palmoplantar hyperhi... |
OMIM:150400 |
| Flynn-Aird Syndrome |
|
Alopecia, Cachexia, Primary adrenal insufficiency, Skin ulcer, Dermal atrophy |
ORPHA:2047 |
| Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA... |
OMIM:603909 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal mitochondrial morphology |
ORPHA:275872 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Abnormal eyebrow morphology, Alopecia, Absent eyelashes, Breast aplasia, Thin skin, Dermal atrophy |
ORPHA:90153 |
| Alopecia-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia, Sparse body hair, Aplasia/Hypoplasia of the eyebrow |
ORPHA:2850 |
| Gapo Syndrome |
|
Oligozoospermia, Hypogonadism, Dysmenorrhea, Amenorrhea |
ORPHA:2067 |
| Hypomelanosis Of Ito |
|
Alopecia, Macular hypopigmented whorls, streaks, and patches, Epicanthus |
OMIM:300337 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Hirsutism, Obesity, Abdominal obesity, Thin skin, Striae distensae |
OMIM:219090 |
| Sweet Syndrome |
|
Predominantly dermal neutrophilic infiltrate, Myositis, Increased circulating interleukin 6 conce... |
ORPHA:3243 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Ventricular tachycardia, First degree atrioventricular block, Left bundle branch block |
OMIM:615616 |
| 45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... |
ORPHA:1772 |
| Omenn Syndrome |
|
Alopecia, Failure to thrive, Pneumonia, Eosinophilia, Splenomegaly, Leukocytosis, Thyroiditis, An... |
ORPHA:39041 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa... |
OMIM:614929 |
| Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Skin rash, Maculopapular exanthema, Reduced na... |
ORPHA:540 |
| Mandibuloacral Dysplasia |
|
Sparse hair, Alopecia, Thin skin, Hypoplastic fingernail |
ORPHA:2457 |
| Hereditary Acrokeratotic Poikiloderma |
|
Eczema, Pustule, Xerostomia, Hypopigmented skin patches, Skin ulcer, Keratoconjunctivitis, Papule... |
ORPHA:2907 |
| Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Alopecia, Sparse eyelashes, Sparse eyebrow, Hypohidrosis, Nail dysplasia, Erysipelas |
OMIM:615704 |
| T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
| Celiac Disease, Susceptibility To, 1 |
|
Alopecia, Macrocytic anemia, Eczema, Thyroiditis, Weight loss, Iron deficiency anemia, Recurrent ... |
OMIM:212750 |
| Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Aplasia of the thymus, Pneumonia, Eosinophilia, Splenomegaly, Increased circul... |
OMIM:602450 |
| Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
| Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Aplasia/Hypoplasia of the skin, Splenomegaly, Pancreatitis, Generalized hirsutism, Premature gray... |
ORPHA:280365 |
| Wolfram Syndrome 1 |
|
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus |
OMIM:222300 |
| Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Sparse hair, Narrow palpebral fissure, Thin skin, Fine hair |
OMIM:614438 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Palpebral edema, Absent eyelashes, Dermal atrophy, S... |
ORPHA:69735 |
| Bare Lymphocyte Syndrome, Type Ii |
|
Viral hepatitis, Cholangitis, Chronic mucocutaneous candidiasis, Agammaglobulinemia, Panhypogamma... |
OMIM:209920 |
| Periventricular Nodular Heterotopia |
|
Thin skin |
ORPHA:98892 |
| Premature Aging Syndrome, Penttinen Type |
|
Skin nodule, Thin skin, Dermal atrophy, Shallow orbits, Sparse hair, Keloids, Failure to thrive |
OMIM:601812 |
| Monilethrix |
|
Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h... |
ORPHA:573 |
| Distal Deletion 19P |
|
Keloids, Alopecia, Thick eyebrow, Decreased circulating antibody level |
ORPHA:96129 |
| Carney Complex |
|
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abn... |
ORPHA:1359 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Alopecia, Abnormal hair morphology, Dermal atrophy, Nail dystrophy, Thin skin |
ORPHA:90154 |
| Glass Syndrome |
|
Long eyelashes, Thin skin, Nail dysplasia, Sparse hair, Downslanted palpebral fissures |
OMIM:612313 |
| Porphyria Cutanea Tarda |
|
Facial hypertrichosis, Alopecia, Onycholysis |
OMIM:176100 |
| Testicular Agenesis |
|
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... |
ORPHA:325124 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Alopecia, Hypopigmentation of hair, Ptosis |
ORPHA:1067 |
| Johnson Neuroectodermal Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Multiple cafe-au-lait spots, Hypohidrosis, Sparse hai... |
ORPHA:2316 |
| Renpenning Syndrome |
|
Abnormal hairshaft morphology, Alopecia, Epicanthus, Cachexia, Upslanted palpebral fissure, Thin ... |
ORPHA:3242 |
| Short Syndrome |
|
Telecanthus, Small for gestational age, Thin skin |
OMIM:269880 |
| Terminal Osseous Dysplasia-Pigmentary Defects Syndrome |
|
Alopecia, Epicanthus, Hyperpigmented papule, Preauricular pit |
ORPHA:88630 |
| Keratoderma Hereditarium Mutilans |
|
Alopecia, Abnormality of the nail, Papule, Abnormal toenail morphology |
ORPHA:494 |
| Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Ambiguous genitalia, Failure to thrive, Abnormal mitochondrial shape, Clitoral hypertrophy |
ORPHA:543470 |
| Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Medial flaring of the eyebrow, Failure to thrive, Upslanted palpebral fissure, Thin skin |
OMIM:617602 |
| Lipoid Proteinosis Of Urbach And Wiethe |
|
Skin erosion, Patchy alopecia, Papule, Skin plaque |
OMIM:247100 |
| Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Upslanted palpebral fissure, Alopecia, Severe failure to thrive |
OMIM:215100 |
| Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
| Alopecia-Contractures-Dwarfism Mental Retardation Syndrome |
|
Alopecia, Telecanthus |
OMIM:203550 |
| Osteogenesis Imperfecta, Type Ii |
|
Small for gestational age, Thin skin |
OMIM:166210 |
| Vulvovaginal Gingival Syndrome |
|
Ridged nail, Skin erosion, Abnormality of tumor necrosis factor secretion |
ORPHA:83453 |
| Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin, Ptosis |
ORPHA:1214 |
| Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Monocytopenia, Lymphopenia, Pancytopenia, D... |
OMIM:618986 |
| Hermansky-Pudlak Syndrome 6 |
|
Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Abnormal platelet granules |
OMIM:614075 |
| Cardiomyopathy, Dilated, 1Y |
|
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... |
OMIM:611878 |
| Immunodeficiency 96 |
|
Conjunctival telangiectasia, Eczema, Increased proportion of gamma-delta T cells, Decreased circu... |
OMIM:619774 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin, Thick eyebrow, Ptosis |
ORPHA:230851 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Truncal obesity, Increased circulating cortisol level, Thin skin, Primary hypercortisolism, Stria... |
OMIM:610489 |
| Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyponatremia, Endometrial carcinoma, Decreased circulating cortisol level, Adrenal hyperplasia, M... |
ORPHA:90790 |
| Focal Dermal Hypoplasia |
|
Macule, Alopecia, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Thin skin, De... |
ORPHA:2092 |
| Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Ridged nail, Alopecia, Aplastic anemia, Thrombocytopenia, Nail pits, Premature graying of hair, L... |
OMIM:127550 |
| Palmoplantar Keratoderma And Congenital Alopecia 1 |
|
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair |
OMIM:104100 |
| Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Deep-set nails, Thin skin |
OMIM:201170 |
| Von Willebrand Disease, Type 1 |
|
Prolonged bleeding time, Impaired platelet aggregation |
OMIM:193400 |
| Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... |
OMIM:500013 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Eczema, Keratoconjunctivitis, Weight loss, Thrombocytopenia, Perioral eczema |
ORPHA:79242 |
| Epidermolysis Bullosa, Lethal Acantholytic |
|
Alopecia totalis, Aplasia cutis congenita, Absent fingernail, Neonatal death, Skin erosion, Anony... |
OMIM:609638 |
| Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Premature graying of hair, Osteomyelitis leading to amputation due to slow healing fractures, Thi... |
OMIM:112250 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Alopecia, Bone marrow hypocellularity, Nail dystrophy, Sparse hair, Failure to thrive |
OMIM:616353 |
| Zika Virus Disease |
|
Maculopapular exanthema, Skin rash, Miscarriage, Thrombocytopenia, Arthritis, Increased circulati... |
ORPHA:448237 |
| De Barsy Syndrome |
|
Epicanthus, Thin skin, Sparse hair, Failure to thrive, Downslanted palpebral fissures |
ORPHA:2962 |
| Immunodeficiency 58 |
|
Recurrent cutaneous abscess formation, Eczema, Allergic rhinitis, Seborrheic dermatitis, Recurren... |
OMIM:618131 |
| Bloom Syndrome |
|
Male infertility, Premature ovarian insufficiency, Small for gestational age, Diabetes mellitus, ... |
ORPHA:125 |
| Self-Improving Dystrophic Epidermolysis Bullosa |
|
Abnormality of the subungual region, Skin erosion, Gastrointestinal inflammation, Atrophic scars,... |
ORPHA:79411 |
| Autoimmune Polyendocrinopathy Type 2 |
|
Hypoparathyroidism, Alopecia, Primary adrenal insufficiency, Hypopigmented skin patches, Graves d... |
ORPHA:3143 |
| Palmoplantar Keratoderma And Congenital Alopecia 2 |
|
Nail dystrophy, Alopecia totalis, Nail dysplasia |
OMIM:212360 |
| Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
| Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Hyperhidrosis, Thin skin, Sparse hair, Milia, Short palpebral fissure |
OMIM:601559 |
| Adams-Oliver Syndrome 2 |
|
Alopecia, Low anterior hairline, Narrow palpebral fissure, Small nail, Aplasia cutis congenita |
OMIM:614219 |
| Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Nail dystrophy, Congenital localized absence of skin |
OMIM:132000 |
| Ciliary Dyskinesia, Primary, 19 |
|
Male infertility, Absent inner and outer dynein arms |
OMIM:614935 |
| Monosomy 18P |
|
Alopecia, Epicanthus, Low posterior hairline, Webbed neck, Hypothyroidism, Ptosis |
ORPHA:1598 |
| Cushing Disease |
|
Sparse scalp hair, Striae distensae, Acne, Leukocytosis, Increased body weight, Recurrent cutaneo... |
ORPHA:96253 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Thin skin, Anemia, Ectropion |
ORPHA:2719 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Decreased activity of mitochondrial complex I, Increased mitochondrial number |
OMIM:615578 |
| Congenital Disorder Of Glycosylation, Type Iil |
|
Death in infancy, Epicanthus, Pancytopenia, Impaired T cell function, Splenomegaly, Decreased spe... |
OMIM:614576 |
| Meier-Gorlin Syndrome 1 |
|
Death in infancy, Small for gestational age, Hyperconvex nail, Long eyelashes, Thin skin, Blephar... |
OMIM:224690 |
| Helsmoortel-Van Der Aa Syndrome |
|
Epicanthus, Decreased response to growth hormone stimulation test, Bilateral ptosis, Ectropion of... |
OMIM:615873 |
| Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
| Schöpf-Schulz-Passarge Syndrome |
|
Sparse hair, Alopecia, Aplasia/Hypoplasia of the eyebrow |
ORPHA:50944 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Downslanted palpebral fissures, Thin skin, Ptosis |
OMIM:616592 |
| Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Myositis, Sinusitis, Skin rash, Failure to thrive, Thrombocytopenia, Splenomegaly, Arthritis, Pan... |
OMIM:617591 |
| Lesch-Nyhan Syndrome |
|
Testicular atrophy, Hyperuricemia |
OMIM:300322 |
| Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Recurrent otitis media, Hyperthyroidism, Hypothyroidism, Thin skin |
ORPHA:449291 |
| Macrophage Activation Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Abnormality o... |
ORPHA:158061 |
| Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
|
Reduced progressive sperm motility |
OMIM:619608 |
| Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Abnormal eyelid morphology, Low anterior hairli... |
ORPHA:1787 |
| Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia |
|
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Alopecia, Asplenia, Iridocyclit... |
OMIM:240300 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Congenital abnormal hair pattern, Pneumonia, Spotty hypopigmentation, Nail dystrophy, A... |
ORPHA:1867 |
| Oculocerebrocutaneous Syndrome |
|
Skin tags, Alopecia, Aplasia/Hypoplasia of the skin, Abnormal fingernail morphology, Hypopigmente... |
ORPHA:1647 |
| Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
| Agammaglobulinemia, X-Linked |
|
T lymphocytopenia, Conjunctivitis, Decreased circulating IgE, Neutropenia, Decreased circulating ... |
OMIM:300755 |
| Insulin-Resistance Syndrome Type B |
|
Alopecia, Skin rash, Pneumonia, Abnormality of body weight, Increased circulating IgA level, Thro... |
ORPHA:2298 |
| Ichthyosis With Alopecia, Eclabium, Ectropion, And Mental Retardation |
|
Alopecia, Ectropion |
OMIM:242510 |
| Hermansky-Pudlak Syndrome 11 |
|
Reduced platelet dense granules, Impaired collagen-induced platelet aggregation |
OMIM:619172 |
| Cornelia De Lange Syndrome |
|
Highly arched eyebrow, Curly eyelashes, Synophrys, Low anterior hairline, Low posterior hairline,... |
ORPHA:199 |
| Idiopathic Trachyonychia |
|
Ridged nail, Thin nail, Autoimmune thrombocytopenia, Concave nail, Atopic dermatitis, Nail pits, ... |
ORPHA:79153 |
| Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma |
|
Death in early adulthood, Alopecia, Sparse eyelashes, Sparse eyebrow, Death in adolescence, Nail ... |
OMIM:605676 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Abnormal hair pattern, Absent eyelashes, Breast hypoplasia, Fine hair... |
ORPHA:920 |
| Ichthyosis, Congenital, Autosomal Recessive 1 |
|
Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Sparse hair, Ectropion |
OMIM:242300 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Sacral dimple, Large for gestation... |
ORPHA:544488 |
| Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism, Small for gestational age |
OMIM:227650 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Sinusitis, Failure to thrive, Pneumonia, Pure red cell aplasia, Impa... |
OMIM:613179 |
| Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Periodontitis, Thin skin |
OMIM:130080 |
| Kury-Isidor Syndrome |
|
Ptosis, Alopecia, Sacral dimple, Recurrent otitis media, Downslanted palpebral fissures, Hypertri... |
OMIM:619762 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... |
OMIM:157640 |
| Epidermolysis Bullosa Dystrophica, Autosomal Recessive |
|
Alopecia, Atrophic scars, Conjunctivitis, Nail dystrophy, Nail dysplasia, Milia, Anemia |
OMIM:226600 |
| Juvenile Temporal Arteritis |
|
Eosinophilia, Allergic rhinitis, Skin nodule, Leukocytosis, Conjunctivitis |
ORPHA:26137 |
| Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Decreased activity of mitochondrial complex I, Hyperalaninemia, Failure to thrive, Mitochondrial ... |
OMIM:618250 |
| Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
| Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Elevated circulating creatine kinase concentration |
OMIM:602541 |
| Hemifacial Atrophy, Progressive |
|
Blepharophimosis, Patchy alopecia, Horner syndrome, Poliosis |
OMIM:141300 |
| Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
| Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Alopecia, Conjunctivitis, Erythroderma, Sparse hair, Failure to thrive, Fragile nails |
OMIM:242150 |
| Hermansky-Pudlak Syndrome 2 |
|
Prolonged bleeding time, Absent platelet dense granules, Reduced natural killer cell activity, Sp... |
OMIM:608233 |
| Hoyeraal-Hreidarsson Syndrome |
|
Abnormal leukocyte morphology, Sparse scalp hair, Thrombocytopenia, Premature graying of hair, Na... |
ORPHA:3322 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Alopecia, Abnormal fingernail morphology, Primary adrenal insufficiency, Hypo... |
ORPHA:3453 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Hemolytic anemia, Acute pancreatitis, Abscess, Eczema, Perianal abscess, Splenomegaly, Lymphadeni... |
OMIM:618935 |
| Adams-Oliver Syndrome |
|
Alopecia, Aplasia/Hypoplasia of the skin, Aplastic/hypoplastic toenail, Leukopenia, Absent finger... |
ORPHA:974 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Aplasia of the thymus, Recurrent pneumonia, Bronchiectasis, Hepatosplenomegaly... |
OMIM:242700 |
| Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Sparse scalp hair, Epicanthus, Failure to thrive, Cholangitis, Hepatosplenomegaly, Upslanted palp... |
OMIM:266920 |
| Dermatosparaxis Ehlers-Danlos Syndrome |
|
Epicanthus, Thin skin, Esophagitis |
ORPHA:1901 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Alopecia, Aplasia/Hypoplasia of the skin, Failure to thrive, Abnormal hai... |
ORPHA:79474 |
| Rhizomelic Chondrodysplasia Punctata |
|
Alopecia, Epicanthus, Sparse body hair |
ORPHA:177 |
| Bjornstad Syndrome |
|
Anhidrosis, Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular int... |
OMIM:262000 |
| Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Central adrenal insufficiency, Alopecia, Melanocytic nevus |
OMIM:612079 |
| Cleft Lip/Palate-Ectodermal Dysplasia Syndrome |
|
Alopecia, Highly arched eyebrow, Synophrys, Hypohidrosis, Dystrophic fingernails, Dystrophic toen... |
ORPHA:3253 |
| Bathing Suit Ichthyosis |
|
Alopecia, Hypohidrosis, Nail dystrophy, Erythroderma, Sparse hair, Ectropion |
ORPHA:100976 |
| Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Neonatal death, Aplasia cutis congenita |
OMIM:612138 |
| Wiedemann-Rautenstrauch Syndrome |
|
Absent eyebrow, Sparse scalp hair, Entropion, Sparse eyelashes, Pneumonia, Alopecia, Failure to t... |
OMIM:264090 |
| Mandibulofacial Dysostosis With Alopecia |
|
Preauricular pit, Alopecia, Sparse eyelashes, Lower eyelid coloboma, Preauricular skin tag |
OMIM:616367 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape |
OMIM:610773 |
| Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
| Arterial Tortuosity Syndrome |
|
Blepharophimosis, Downslanted palpebral fissures, Thin skin, Short palpebral fissure |
OMIM:208050 |
| Keutel Syndrome |
|
Recurrent otitis media, Alopecia, Dermal atrophy, Recurrent sinusitis |
ORPHA:85202 |
| Restrictive Dermopathy 1 |
|
Entropion, Sparse eyelashes, Short nail, Absent eyelashes, Sparse eyebrow, Stillbirth, Neonatal d... |
OMIM:275210 |
| Barth Syndrome |
|
Failure to thrive, Abnormal mitochondrial morphology |
OMIM:302060 |
| Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Alopecia, Acne, Increased body weight, Increased circulating cortisol level, Primary hypercortiso... |
OMIM:615830 |
| Renal Cysts And Diabetes Syndrome |
|
Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the young, Elevated circulating creati... |
OMIM:137920 |
| Incontinentia Pigmenti |
|
Ridged nail, Alopecia, Maculopapular exanthema, Eosinophilia, Supernumerary nipple, Keratitis, Le... |
OMIM:308300 |
| Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Mitochondrial swelling, Mildly elevated creatine kinase |
ORPHA:397744 |
| Omenn Syndrome |
|
Alopecia, Severe B lymphocytopenia, Eosinophilia, Pneumonia, Splenomegaly, Thrombocytopenia, Hypo... |
OMIM:603554 |
| Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia |
|
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... |
OMIM:307200 |
| Johanson-Blizzard Syndrome |
|
Absent lacrimal punctum, Alopecia, Death in infancy, Abnormal hair pattern, Failure to thrive, An... |
ORPHA:2315 |
| Björnstad Syndrome |
|
Alopecia, Brittle hair |
ORPHA:123 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Anhidrosis, Alopecia, Abnormal fingernail morphology, Skin ulcer, Palmoplantar hyperhidrosis, Ski... |
ORPHA:659 |
| Adams-Oliver Syndrome 4 |
|
Hypoplastic toenails, Aplasia cutis congenita, Toenail dysplasia |
OMIM:615297 |
| Cutaneous Telangiectasia And Cancer Syndrome, Familial |
|
Ridged nail, Alopecia, Yellow nails, Onycholysis, Nail dystrophy, Sparse lateral eyebrow |
OMIM:614564 |
| Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome |
|
Alopecia, Brittle hair, Upslanted palpebral fissure, Coarse hair, Nail dystrophy |
ORPHA:75389 |
| Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Recurrent bacterial skin infections, Hypopigmentation ... |
OMIM:214500 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Sparse scalp hair, Numerous nevi, Atrophic scars, Thin skin, Downslanted palpebral fissures, Ptosis |
ORPHA:536471 |
| Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Keratitis, Osteoarthritis, Skin ulcer, Dystrophic fingernails, Ab... |
ORPHA:1657 |
| Immunodeficiency 7 |
|
Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Neutropenia, Patchy alopecia, Chron... |
OMIM:615387 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Sparse hair, Failure to thrive, Lacrimal duct stenosis, Thin skin |
OMIM:151050 |
| Arterial Tortuosity Syndrome |
|
Myocarditis, Thin skin, Esophagitis, Blepharophimosis, Short palpebral fissure |
ORPHA:3342 |
| Barber-Say Syndrome |
|
Ablepharon, Telecanthus, Aplasia/Hypoplasia of the skin, Sparse or absent eyelashes, Breast aplas... |
ORPHA:1231 |
| Menkes Disease |
|
Sparse hair, Alopecia, Brittle hair, Death in childhood |
OMIM:309400 |
| Wolfram Syndrome 2 |
|
Impaired collagen-induced platelet aggregation, Decreased circulating antibody level |
OMIM:604928 |
| Combined Oxidative Phosphorylation Deficiency 19 |
|
Failure to thrive, Mitochondrial swelling |
OMIM:615595 |
| Macs Syndrome |
|
Epicanthus, Alopecia, Palpebral edema, Sparse eyebrow, Bronchiectasis, Recurrent aphthous stomati... |
OMIM:613075 |
| Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Alopecia, Truncal obesity, Epicanthus, Supernumerary nipple |
ORPHA:3224 |
| Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma |
|
Conjunctival telangiectasia, Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystroph... |
OMIM:618373 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Pneumonia, Eosinophilia, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Kerato... |
OMIM:158310 |
| Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome |
|
Congenital alopecia totalis, Sparse eyebrow, Absent pubic hair, Absent axillary hair, Alopecia of... |
ORPHA:2269 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Anhidrosis, Alopecia, Thin nail, Abnormal hair morphology, Hypohidrosis, Small nail, Ectropion |
OMIM:242100 |
| Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Eosinophilic infiltration of the esophagus, Perianal abscess, Leukocytosis, Increased circulating... |
OMIM:618213 |
| Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
| Congenital Disorder Of Glycosylation, Type Im |
|
Death in infancy, Alopecia, Inflammatory abnormality of the skin, Sparse eyelashes, Sparse eyebro... |
OMIM:610768 |
| Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
| Adult Acute Respiratory Distress Syndrome |
|
Increased circulating interleukin 6 concentration, Pneumonia, Abnormal circulating interleukin co... |
ORPHA:70578 |
| Epidermolysis Bullosa, Junctional 1A, Intermediate |
|
Patchy alopecia, Nail dystrophy, Fragile nails, Palmar hyperhidrosis |
OMIM:226650 |
| Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency |
|
Impaired neutrophil bactericidal activity, Spontaneous hemolytic crises, Splenomegaly, Cholecysti... |
OMIM:613470 |
| Schimke Immuno-Osseous Dysplasia |
|
Failure to thrive, Small for gestational age, Impaired T cell function, Hypermelanotic macule, Mi... |
ORPHA:1830 |
| Mixed Connective Tissue Disease |
|
Hemolytic anemia, Myositis, Pericarditis, Skin rash, Gastritis, Alopecia, Myocarditis, Splenomega... |
ORPHA:809 |
| Acute Lung Injury |
|
Acute pancreatitis, Increased circulating interleukin 6 concentration, Pneumonia, Abnormality of ... |
ORPHA:178320 |
| Lassa Fever |
|
Increased circulating IgM level, Miscarriage, Conjunctivitis |
ORPHA:99824 |
| Frontonasal Dysplasia 2 |
|
Telecanthus, Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Upslanted palpebral f... |
OMIM:613451 |
| Geroderma Osteodysplastica |
|
Thin skin |
ORPHA:2078 |
| Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects, Nail dystrophy, Highly arched eyebrow |
OMIM:300887 |
| Bartsocas-Papas Syndrome |
|
Alopecia totalis, Hypoplastic toenails, Ankyloblepharon, Popliteal pterygium, Sparse or absent ey... |
ORPHA:1234 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Alopecia, Cachexia, Xerostomia, Nail dystrophy, Nail dysplasia, Anemia |
OMIM:175500 |
| Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Alopecia, Pancytopenia, Aplastic anemia, Fine hair, Premature graying of hair, Leukopenia, Bone m... |
OMIM:613990 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Epicanthus, Recurrent pneumonia, Thin skin, Molluscoid pseudotumors, Downslanted palpebral fissur... |
OMIM:225400 |
| Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Upslanted palpebral fissure, Alopecia, Telecanthus, Fine hair |
ORPHA:228390 |
| Incontinentia Pigmenti |
|
Alopecia, Skin rash, Eosinophilia, Supernumerary nipple, Abnormal fingernail morphology, Keratiti... |
ORPHA:464 |
| Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Increased mitochondrial number, Diabetes mellitus, Hypothyroidism, Abnormal circulating creatine ... |
ORPHA:263297 |
| Ablepharon-Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Hypoplasia of eyelid, Absent eyelashes, Hypoplastic nipples, Thin ski... |
OMIM:200110 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Downslanted palpebral fissures, Decreased response to growth hormone stimulation test |
OMIM:601853 |
| Kikuchi-Fujimoto Disease |
|
Macule, Erythematous macule, Alopecia, Skin rash, Palpebral edema, Pustule, Myocarditis, Thromboc... |
ORPHA:50918 |
| Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Alopecia, Sparse eyelashes, Sparse scalp hair, Small for gestational ... |
OMIM:268400 |
| Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Increased circulating interleukin 6 concentration, Microcytic anemia, Increased circulating inter... |
OMIM:256040 |
| Wiskott-Aldrich Syndrome |
|
Abnormal delayed hypersensitivity skin test, Iron deficiency anemia, Inflammation of the large in... |
OMIM:301000 |
| Hyperkeratosis Lenticularis Perstans |
|
Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
| Leprosy |
|
Urticarial plaque, Absent eyebrow, Alopecia, Hypopigmented macule, Abnormality of the spleen, Ski... |
ORPHA:548 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Abnormal mitochondrial shape, Hypospadias, Decreased activity of mitochon... |
ORPHA:17 |
| Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Absent eyebrow, Epicanthus, Membranoproliferative glomerulonephritis, Sparse eyelashes, Palpebral... |
OMIM:137940 |
| Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Failure to thrive, Impaired T cell function, Splenomegaly, Paronychia, Alopecia of scalp |
OMIM:201100 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin, Cachexia, Abnormal hair morphology, Weight loss, Premature grayin... |
ORPHA:1979 |
| Bresek Syndrome |
|
Neonatal death, Alopecia |
ORPHA:85284 |
| T-Cell Immunodeficiency With Thymic Aplasia |
|
Failure to thrive, Sinusitis, Decreased proportion of naive T cells, Pneumonia, Aplasia of the th... |
ORPHA:83471 |
| Ectodermal Dysplasia And Immunodeficiency 2 |
|
Sparse scalp hair, Anhidrosis, Defective production of NFKB1-dependent cytokines, Splenomegaly, H... |
OMIM:612132 |
| Autoerythrocyte Sensitization Syndrome |
|
Abnormal erythrocyte morphology, Thrombocytosis, Impaired platelet adhesion, Autoimmune thrombocy... |
ORPHA:324636 |
| Even-Plus Syndrome |
|
Highly arched eyebrow, Synophrys, Atopic dermatitis, Sparse hair, Aplasia cutis congenita |
OMIM:616854 |
| Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome |
|
Absent eyebrow, Alopecia, Absent eyelashes, Small nail, Cafe-au-lait spot, Downslanted palpebral ... |
ORPHA:166035 |
| Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair |
ORPHA:1839 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Nevus, Multiple pterygia, Abnormal eyeli... |
ORPHA:2990 |
| Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency |
|
Iridocyclitis, Alopecia, Hypothyroidism, Pancreatitis |
ORPHA:412057 |
| Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Synophrys, Atypical scarring of skin, Thin skin, Downslanted palpebral fissures |
ORPHA:536545 |
| Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Sparse scalp hair, Sparse eyelashes, Hypoplastic pilosebaceous units, Sparse eyebrow, Hypoplastic... |
OMIM:601345 |
| Psoriasis-Related Juvenile Idiopathic Arthritis |
|
Anterior uveitis, Psoriasiform dermatitis, Skin rash, Iridocyclitis, Oligoarthritis, Uveitis, Ent... |
ORPHA:85436 |
| Onychotrichodysplasia And Neutropenia |
|
Curly hair, Chronic irritative conjunctivitis, Chronic neutropenia, Curly eyelashes, Concave nail... |
OMIM:258360 |
| Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
| Autoimmune Polyendocrine Syndrome, Type Ii |
|
Alopecia, Hyperthyroidism, Asplenia, Primary adrenal insufficiency, Hepatitis, Chronic mucocutane... |
OMIM:269200 |
| Alopecia-Intellectual Disability Syndrome 4 |
|
Alopecia, Erythroderma |
OMIM:618840 |
| Pediatric Systemic Lupus Erythematosus |
|
Lymphopenia, Myositis, Alopecia, Skin rash, Discoid lupus rash, Arthritis, Leukopenia, Microangio... |
ORPHA:93552 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Acne, Leukocytosis, Increased body weight, Recurrent cutaneo... |
ORPHA:99889 |
| B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:536467 |
| Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Death in early adulthood, Alopecia, Brittle hair, Dermal atrophy, Sparse hair |
OMIM:608612 |
| Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Alopecia, Striae distensae, Acne, Primary hyperparathyroidism, Increased body weight, Increased c... |
ORPHA:189427 |
| Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
| Dystonia-Aphonia Syndrome |
|
Abnormal mitochondrial shape |
ORPHA:412217 |
| Vici Syndrome |
|
Lymphopenia, Epicanthus, Hypopigmentation of hair, Failure to thrive, Albinism, Decreased circula... |
OMIM:242840 |
| Adams-Oliver Syndrome 3 |
|
Hypoplastic fifth fingernail, Short palpebral fissure, Aplasia cutis congenita |
OMIM:614814 |
| Nodular Non-Suppurative Panniculitis |
|
Aplasia/Hypoplasia of the skin, Splenomegaly, Subcutaneous nodule, Weight loss, Panniculitis, Inf... |
ORPHA:33577 |
| Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Pituitary growth hormone cell adenoma, Elevated circulating creatinine concentr... |
ORPHA:730 |
| Relapsing Polychondritis |
|
Episcleritis, Macule, Pericarditis, Alopecia, Chondritis of pinna, Keratitis, Myocarditis, Hepati... |
ORPHA:728 |
| Short Syndrome |
|
Sparse hair, Alopecia, Telecanthus, Weight loss |
ORPHA:3163 |
| Centrifugal Lipodystrophy |
|
Alopecia, Lymphadenitis, Inflammatory abnormality of the skin |
ORPHA:90156 |
| Abnormal Hair, Joint Laxity, And Developmental Delay |
|
Alopecia, Fragile nails, Small nail, Recurrent otitis media, Pili torti, Trichorrhexis nodosa, Sp... |
OMIM:261990 |
| Leukocyte Adhesion Deficiency |
|
Sinusitis, Severe periodontitis, Conjunctivitis, Otitis media, Vaginitis, Polycythemia, Perianal ... |
ORPHA:2968 |
| Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis |
|
Alopecia, Sparse eyelashes, Thick hair, Sparse eyebrow, Splenomegaly, Sclerosing cholangitis, Spa... |
OMIM:607626 |
| Bartsocas-Papas Syndrome 1 |
|
Skin tags, Absent eyebrow, Ablepharon, Alopecia, Sparse scalp hair, Alopecia totalis, Cicatricial... |
OMIM:263650 |
| Chanarin-Dorfman Syndrome |
|
Alopecia, Ectropion |
OMIM:275630 |
| Wiedemann-Rautenstrauch Syndrome |
|
Sparse scalp hair, Entropion, Recurrent skin infections, Decreased response to growth hormone sti... |
ORPHA:3455 |
| Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Abnormal mitochondrial shape |
ORPHA:485421 |
| Giant Cell Arteritis |
|
Alopecia, Pericarditis, Skin ulcer, Hyperhidrosis, Weight loss, Arthritis, Ptosis |
ORPHA:397 |
| Ane Syndrome |
|
Alopecia, Decreased response to growth hormone stimulation test, Reduced circulating prolactin co... |
ORPHA:157954 |
| Mgat2-Cdg |
|
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Impa... |
ORPHA:79329 |
| H Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Psoriasiform dermatitis, Histiocytosis, Microcytic anemia,... |
ORPHA:168569 |
| Lipodystrophy, Familial Partial, Type 7 |
|
Sparse scalp hair, Small for gestational age, Recurrent pancreatitis, Thin skin, Sparse hair, Fai... |
OMIM:606721 |
| Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Alopecia, Small for gestational age, Microcytic anemia, Low posterior hairline, T lymphocytopenia... |
ORPHA:2959 |
| Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the skin, Sparse eyelashes, Skin rash, Alopecia totalis, Aplastic anemia, S... |
ORPHA:2909 |
| Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Hyperphosphatemia, Hypocalcemia, Abnormal platelet function, Hypocalcemic tetany, Hyp... |
ORPHA:79443 |
| Tetrasomy 9P |
|
Absent gallbladder, Cryptorchidism, Oligozoospermia, Lissencephaly, Infertility, Micropenis, Pach... |
ORPHA:3310 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Increased inflammatory response, Increased circulating interleukin 6 concentration, Skin rash, In... |
ORPHA:542323 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Alopecia, Hypohidrosis, Upslanted palpebral fissure, Sparse hair, Abnormal toenail morphology |
ORPHA:1005 |
| Warburg-Cinotti Syndrome |
|
Epicanthus, Symblepharon, Narrow palpebral fissure, Thin skin, Blepharophimosis, Sterile abscess |
OMIM:618175 |
| Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin, Abnormality of the nail, Small nail |
ORPHA:384 |
| Hallermann-Streiff Syndrome |
|
Telecanthus, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Uveitis, De... |
ORPHA:2108 |
| Ciliary Dyskinesia, Primary, 1 |
|
Male infertility, Absent outer dynein arms |
OMIM:244400 |
| Satoyoshi Syndrome |
|
Alopecia, Alopecia universalis |
OMIM:600705 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ptosis, Alopecia, Obesity, Abnormal granulocyte morphology, Ectropion |
ORPHA:98907 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 1 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233700 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 2 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233710 |
| Hermansky-Pudlak Syndrome 8 |
|
Impaired platelet aggregation |
OMIM:614077 |
| Trichothiodystrophy |
|
Ridged nail, Congenital exfoliative erythroderma, Epicanthus, Brittle hair, Sparse scalp hair, Ec... |
ORPHA:33364 |
| Alstrom Syndrome |
|
Alopecia, Chronic active hepatitis, Decreased response to growth hormone stimulation test, Hypoth... |
OMIM:203800 |
| Hereditary Orotic Aciduria |
|
Impaired T cell function, Splenomegaly, Abnormal toenail morphology, Downslanted palpebral fissur... |
ORPHA:30 |
| Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Alopecia |
OMIM:241090 |
| Fumarase Deficiency |
|
Lissencephaly, Hyperbilirubinemia, Failure to thrive, Mitochondrial swelling, Polymicrogyria |
OMIM:606812 |
| Granulomatous Disease, Chronic, Autosomal Recessive, 4 |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:233690 |
| Werner Syndrome |
|
Sparse scalp hair, Aplasia/Hypoplasia of the skin, Miscarriage, Abnormal hair whorl, Skin ulcer, ... |
ORPHA:902 |
| Porphyria, Congenital Erythropoietic |
|
Absent eyebrow, Alopecia, Hemolytic anemia, Splenomegaly, Loss of eyelashes, Atypical scarring of... |
OMIM:263700 |
| Systemic Sclerosis |
|
Pericarditis, Osteomyelitis, Recurrent skin infections, Glomerulonephritis, Alopecia, Nail bed te... |
ORPHA:90291 |
| Generalized Eruptive Keratoacanthoma |
|
Keratoconjunctivitis sicca, Conjunctivitis, Papule, Ectropion |
ORPHA:411777 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Linear nevus sebaceous, Alopecia, Nevus sebaceous, Nevus |
OMIM:163200 |
| Zinc Deficiency, Transient Neonatal |
|
Alopecia, Eczema |
OMIM:608118 |
| X-Linked Intellectual Disability, Snyder Type |
|
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy |
ORPHA:3063 |
| Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
| X-Linked Dominant Chondrodysplasia Punctata |
|
Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,... |
ORPHA:35173 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Hyperhidrosis, Nail dystrophy, Nail dysplasia, Sparse hair, Alopecia un... |
OMIM:614594 |
| Biotinidase Deficiency |
|
Alopecia, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunctivitis |
OMIM:253260 |
| Leigh Syndrome |
|
Ptosis, Alopecia, Eczema, Neutropenia, Frontal hirsutism, Failure to thrive, Anemia, Hypertrichosis |
ORPHA:506 |
| Rothmund-Thomson Syndrome Type 1 |
|
Aplastic anemia, Alopecia totalis, Small for gestational age, Anemia, Sparse or absent eyelashes,... |
ORPHA:221008 |
| Coccidioidomycosis |
|
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... |
ORPHA:228123 |
| Olmsted Syndrome 2 |
|
Sparse hair, Woolly hair, Cheilitis, Alopecia universalis |
OMIM:619208 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Epicanthus, Failure to thrive, Secondary hyperparathyroidism, Alopecia universalis |
OMIM:277440 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Alopecia, Widened atrophic scar, Sacral dimple, Piezogenic pedal papules, Bilateral ptosis, Kerat... |
ORPHA:536532 |
| Gapo Syndrome |
|
Alopecia, Epicanthus, Sparse eyelashes, Epidermoid cyst, Sparse eyebrow, Hypoplastic nipples, Nai... |
OMIM:230740 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Telecanthus, Thick hair, Thrombocytopenia, Hepatosplenomegaly, Leukopenia, Increased ... |
ORPHA:505248 |
| Localized Scleroderma |
|
Fasciitis, Abnormal skin adnexa morphology, Cutaneous sclerotic plaque, Localized skin lesion, Hy... |
ORPHA:90289 |
| Juvenile Dermatomyositis |
|
Myositis, Pericarditis, Palpebral edema, Skin rash, Alopecia, Skin ulcer, Weight loss, Arthritis |
ORPHA:93672 |
| Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies |
|
Upslanted palpebral fissure, Patchy alopecia, Sparse hair, Hypothyroidism, Short palpebral fissure |
OMIM:617763 |
| Encephalocraniocutaneous Lipomatosis |
|
Limbal dermoid, Alopecia, Eyelid coloboma, Nevus psiloliparus |
OMIM:613001 |
| Von Hippel-Lindau Syndrome |
|
Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Pheochromocy... |
OMIM:193300 |
| Xeroderma Pigmentosum, Complementation Group A |
|
Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy, Verrucous epidermal ... |
OMIM:278700 |
| Toriello-Lacassie-Droste Syndrome |
|
Epicanthus, Telecanthus, Aplasia/Hypoplasia of the skin, Blepharophimosis, Eyelid coloboma, Abnor... |
ORPHA:3339 |
| Obesity Due To Congenital Leptin Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Pituitary hypot... |
ORPHA:66628 |
| Vascular Ehlers-Danlos Syndrome |
|
Macule, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Alopecia, Abnormality of hair texture... |
ORPHA:286 |
| Sarcoidosis, Susceptibility To, 1 |
|
Abnormality of T cell physiology, Pancytopenia, Iridocyclitis, Splenomegaly, Enlarged lacrimal gl... |
OMIM:181000 |
| Obesity Due To Leptin Receptor Gene Deficiency |
|
Decreased proportion of CD4-positive helper T cells, Decreased T cell activation, Pituitary hypot... |
ORPHA:179494 |
| Adrenoleukodystrophy |
|
Alopecia, Primary adrenal insufficiency |
OMIM:300100 |
| Autosomal Recessive Robinow Syndrome |
|
Death in infancy, Epicanthus, Alopecia, Nevus flammeus, Sacral dimple, Upslanted palpebral fissur... |
ORPHA:1507 |
| Sarcoidosis |
|
Increased T cell count, Subcutaneous nodule, Uveitis, Tubulointerstitial nephritis, Leukopenia, H... |
ORPHA:797 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Alopecia |
OMIM:600785 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Epicanthus, Osteoarthritis, Subcutaneous nodule, Atypical scarring of skin, Keratoconjunctivitis ... |
ORPHA:285 |
| Xeroderma Pigmentosum Variant |
|
Keratitis, Dermal atrophy |
ORPHA:90342 |
| Satoyoshi Syndrome |
|
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis |
ORPHA:3130 |
| Rothmund-Thomson Syndrome Type 2 |
|
Aplastic anemia, Alopecia totalis, Small for gestational age, Anemia, Sparse or absent eyelashes,... |
ORPHA:221016 |
| Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
| Keratoderma Hereditarium Mutilans With Ichthyosis |
|
Alopecia, Nail dystrophy, Onychogryposis |
ORPHA:79395 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Alopecia, Numerous nevi, Eczema, Sacral dimple, Blepharophimosis, Decreased response ... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Alopecia, Numerous nevi, Eczema, Sacral dimple, Blepharophimosis, Decreased response ... |
ORPHA:363958 |
| Orofaciodigital Syndrome Type 1 |
|
Epicanthus, Brittle hair, Telecanthus, Alopecia, Lip pit, Coarse hair, Sparse hair, Chronic otiti... |
ORPHA:2750 |
| Progeroid Short Stature With Pigmented Nevi |
|
Numerous nevi, Small for gestational age, Allergic rhinitis, Impaired T cell function, Allergic c... |
OMIM:176690 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Abnormal eyebrow morphology, Alopecia, Sparse facial hair, Sparse eyebrow, Sparse pubic hair, Inc... |
ORPHA:2232 |
| Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula... |
OMIM:241200 |
| Floating-Harbor Syndrome |
|
Hypospadias, Cryptorchidism, Glandular hypospadias, Epididymal cyst, Varicocele |
OMIM:136140 |
| Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
| Granulomatous Disease, Chronic, X-Linked |
|
Recurrent bacterial skin infections, Liver abscess, Osteomyelitis, Discoid lupus rash, Splenomega... |
OMIM:306400 |
| Nestor-Guillermo Progeria Syndrome |
|
Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Failure to thrive |
OMIM:614008 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased body weight, Failure to thrive, Recurrent skin infections, Skin erosion, Atypical scarr... |
ORPHA:89842 |
| Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Generalized hirsutism |
ORPHA:1553 |
| Severe Generalized Junctional Epidermolysis Bullosa |
|
Alopecia, Failure to thrive, Recurrent skin infections, Pneumonia, Skin erosion, Paronychia, Gast... |
ORPHA:79404 |
| Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Alopecia, Onychogryposis of fingernail, Sacral dimple, Curly eyelashes, Naevus flamme... |
ORPHA:3107 |
| Cystinosis, Nephropathic |
|
Male infertility, Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Hypomagnesemia, ... |
OMIM:219800 |
| 3-Methylcrotonyl-Coa Carboxylase 2 Deficiency |
|
Alopecia, Failure to thrive, Seborrheic dermatitis |
OMIM:210210 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 10 |
|
Normochromic anemia, Small for gestational age, Alopecia totalis, Thrombocytopenia |
OMIM:618775 |
| Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Alopecia |
OMIM:600142 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m... |
ORPHA:2396 |
| Floating-Harbor Syndrome |
|
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Epididymal cyst, Vari... |
ORPHA:2044 |
| Lyme Disease |
|
Skin nodule, Uveitis, Arthritis, Dermal atrophy, Infectious encephalitis |
ORPHA:91546 |
| Infection-Related Hemolytic Uremic Syndrome |
|
Hemolytic anemia, Brain abscess, Increased circulating interleukin 6 concentration, Pneumonia, My... |
ORPHA:544482 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Alopecia, Central hypothyroidism |
ORPHA:453533 |
| Holocarboxylase Synthetase Deficiency |
|
Alopecia, Skin rash, Thrombocytopenia |
OMIM:253270 |
| Fibrodysplasia Ossificans Progressiva |
|
Alopecia |
OMIM:135100 |
| Xeroderma Pigmentosum, Variant Type |
|
Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278750 |
| Noonan Syndrome |
|
Abnormality of the spleen, Abnormal platelet function |
ORPHA:648 |
| Desmosterolosis |
|
Epicanthus, Aplasia/Hypoplasia of the skin, Splenomegaly, Dermal atrophy, Failure to thrive, Down... |
ORPHA:35107 |
| Xeroderma Pigmentosum, Complementation Group E |
|
Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278740 |
| Steinert Myotonic Dystrophy |
|
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... |
ORPHA:273 |
| Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion, Small for gestational age |
ORPHA:567983 |
| Hypocalcemic Vitamin D-Resistant Rickets |
|
Alopecia, Hyperparathyroidism |
ORPHA:93160 |
| Chronic Graft Versus Host Disease |
|
Fasciitis, Alopecia, Pancytopenia, Urinary bladder inflammation, Xerostomia, Bronchiectasis, Inte... |
ORPHA:99921 |
| Noonan Syndrome 1 |
|
Male infertility, Hypospadias, Failure to thrive in infancy, Cryptorchidism, Hypogonadism |
OMIM:163950 |
| Acute Generalized Exanthematous Pustulosis |
|
Predominantly dermal neutrophilic infiltrate, Neutrophilia, Eosinophilia, Pustule, Leukocytosis, ... |
ORPHA:293173 |
| Orofaciodigital Syndrome I |
|
Epicanthus, Telecanthus, Dry hair, Alopecia, Sparse hair, Downslanted palpebral fissures, Milia |
OMIM:311200 |
| Scalp-Ear-Nipple Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Sparse axillary hair, Sparse pubic hair, Lower eyelid c... |
OMIM:181270 |
| Hutchinson-Gilford Progeria Syndrome |
|
Alopecia |
OMIM:176670 |
| Acute Radiation Syndrome |
|
Inflammatory abnormality of the skin, Skin ulcer, Interstitial pneumonitis, Granulocytopenia, Der... |
ORPHA:454831 |
| Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects |
|
Alopecia, Epidermal nevus, Stillbirth, Small nail, Nevus |
OMIM:308050 |
| Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:2833 |
| Von Hippel-Lindau Disease |
|
Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Pancreatic endocrine t... |
ORPHA:892 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Recurrent skin infections, Eczema, Subungual hyperke... |
OMIM:308205 |
| Granulomatosis With Polyangiitis |
|
Episcleritis, Sinusitis, Keratitis, Uveitis, Skin ulcer, Weight loss, Granulomatosis, Conjunctivi... |
OMIM:608710 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:99226 |
| Dermatomyositis |
|
Abnormal hair quantity, Pericarditis, Abnormal eosinophil morphology, Aplasia/Hypoplasia of the s... |
ORPHA:221 |
| Turner Syndrome |
|
Hypoplastic toenails, Gastrointestinal inflammation, Hyperconvex fingernails, Inflammation of the... |
ORPHA:881 |
| Biotinidase Deficiency |
|
Skin rash, Alopecia, Eczematoid dermatitis, Conjunctivitis |
ORPHA:79241 |
| Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... |
ORPHA:158684 |
| Linear Nevus Sebaceus Syndrome |
|
Alopecia, Telecanthus, Melanocytic nevus |
ORPHA:2612 |
| Xeroderma Pigmentosum, Complementation Group D |
|
Entropion, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278730 |
| Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Sparse scalp hair, Alopecia, Dermal atrophy, Onychogryposis |
OMIM:248370 |
| Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Alopecia, Decreased circulating cortisol level, Acne, Hirsutism |
ORPHA:90795 |
| Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Thin skin, Striae distensae |
ORPHA:60030 |
| Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Sparse eyebrow, Patchy alopecia, Erythroderma, Sparse hair, Failure to thrive, ... |
OMIM:302960 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type |
|
Upslanted palpebral fissure, Patchy alopecia, Decreased body weight, Failure to thrive, Thick eye... |
OMIM:300534 |
| Lethal Acantholytic Erosive Disorder |
|
Absent eyebrow, Absent eyelashes, Absent toenail, Absent fingernail, Congenital alopecia totalis,... |
ORPHA:158687 |
| Kindler Epidermolysis Bullosa |
|
Aplasia/Hypoplasia of the skin, Recurrent skin infections, Cheilitis, Atypical scarring of skin, ... |
ORPHA:2908 |
| Xeroderma Pigmentosum, Complementation Group C |
|
Entropion, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278720 |
| Adams-Oliver Syndrome 5 |
|
Hypersplenism, Splenomegaly, Hypoplastic toenails, Cutis marmorata telangiectatica congenita, Apl... |
OMIM:616028 |
| Systemic Lupus Erythematosus |
|
Hemolytic anemia, Alopecia, Lupus nephritis, Discoid lupus rash, Cheilitis, Arthritis, Leukopenia... |
ORPHA:536 |
| African Trypanosomiasis |
|
Erythematous macule, Pericarditis, Alopecia, Miscarriage, Keratitis, Myocarditis, Splenomegaly, H... |
ORPHA:3385 |
| Ectodermal Dysplasia-Skin Fragility Syndrome |
|
Chapped lip, Recurrent skin infections, Recurrent pneumonia, Cheilitis, Hypohidrosis, Nail dystro... |
ORPHA:158668 |
| Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Eczema, Toenail dysplasia, Synophrys, Nasolacrimal duct obstruction, Sparse hair, ... |
OMIM:300966 |
| Colchicine Poisoning |
|
Leukocytosis, Myocarditis, Alopecia |
ORPHA:31824 |
| Phakomatosis Pigmentokeratotica |
|
Melanocytic nevus, Linear nevus sebaceous, Hyperhidrosis, Patchy alopecia, Blue nevus, Nevus spilus |
ORPHA:2874 |
| Viss Syndrome |
|
Chronic gastritis, Ptosis, Sparse scalp hair, Alopecia, Eczema, Increased circulating IgE level, ... |
OMIM:619472 |
| Hallermann-Streiff Syndrome |
|
Sparse scalp hair, Sparse eyelashes, Small for gestational age, Sparse eyebrow, Recurrent pneumon... |
OMIM:234100 |
| Velocardiofacial Syndrome |
|
Blepharophimosis, Narrow palpebral fissure, Hypoparathyroidism, Impaired T cell function |
OMIM:192430 |
| Malignant Atrophic Papulosis |
|
Peritonitis, Weight loss, Dermal atrophy, Arteritis, Papule, Ptosis |
ORPHA:679 |
| Nocardiosis |
|
Brain abscess, Pericarditis, Osteomyelitis, Liver abscess, Pneumonia, Keratitis, Lymphadenitis, D... |
ORPHA:31204 |
| Subacute Cutaneous Lupus Erythematosus |
|
Discoid lupus rash, Cheilitis, Annular cutaneous lesion, Dermal atrophy, Malar rash |
ORPHA:163525 |
| 22Q11.2 Deletion Syndrome |
|
Hypoparathyroidism, Telecanthus, Epicanthus, Acne, Impaired T cell function, Hyperthyroidism, Abn... |
ORPHA:567 |
| Autosomal Dominant Hypocalcemia |
|
Alopecia, Abnormal fingernail morphology, Eczema, Abnormality of the nail |
ORPHA:428 |
| Cogan Syndrome |
|
Episcleritis, Keratitis, Leukocytosis, Uveitis, Scleritis, Conjunctivitis, Thrombocytosis, Inflam... |
ORPHA:1467 |
| Cystic Fibrosis |
|
Male infertility, Failure to thrive |
OMIM:219700 |
| Reactive Arthritis |
|
Pericarditis, Osteomyelitis, Pustule, Enthesitis, Weight loss, Arthritis, Inflammation of the lar... |
ORPHA:29207 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Alopecia totalis, Hypermelanotic macule, Nocturnal lagophthalmos, Osteoarthritis,... |
ORPHA:740 |
| Barber-Say Syndrome |
|
Telecanthus, Absent nipple, Sparse eyelashes, Sparse eyebrow, Epiblepharon, Low anterior hairline... |
OMIM:209885 |
| Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Absent eyebrow, Absent eyelashes, Premature graying of hair, Sparse hair, Alopecia universalis |
ORPHA:363618 |
| Trichotillomania |
|
Alopecia |
OMIM:613229 |
| Cockayne Syndrome B |
|
Anhidrosis, Dry hair, Small for gestational age, Abnormal hair morphology, Splenomegaly, Atypical... |
OMIM:133540 |
| Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Hypoparathyroidism, Abnormality of T cell physiology, Psoriasiform dermatitis |
ORPHA:2237 |
| De Sanctis-Cacchione Syndrome |
|
Entropion, Hypermelanotic macule, Keratitis, Conjunctivitis, Dermal atrophy, Ectropion |
OMIM:278800 |
| Behcet Syndrome |
|
Erythema nodosum, Iridocyclitis, Epididymitis, Arthritis, Patchy alopecia, Iritis |
OMIM:109650 |
| Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Leukocytosis, Alopecia, Hypoplasia of eyelid, Abdominal obesity |
OMIM:619321 |
| Xfe Progeroid Syndrome |
|
Failure to thrive, Dermal atrophy, Cachexia, Death in adolescence |
OMIM:610965 |
| Adams-Oliver Syndrome 1 |
|
Aplasia cutis congenita on trunk or limbs, Alopecia, Supernumerary nipple, Aplasia cutis congenit... |
OMIM:100300 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Inflammatory abnormality of the skin, Skin rash, Symblepharon, Pneumonia, Trich... |
ORPHA:95455 |
| Junctional Epidermolysis Bullosa With Pyloric Atresia |
|
Recurrent skin infections, Urinary bladder inflammation, Nail dystrophy, Aplasia cutis congenita,... |
ORPHA:79403 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology, Abnormal ... |
ORPHA:2556 |
| Ring Chromosome 13 Syndrome |
|
Alopecia, Epicanthus, Cafe-au-lait spot, Primary hypothyroidism |
ORPHA:96176 |
| Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
| Oculoectodermal Syndrome |
|
Epicanthus, Epidermal nevus, Supernumerary nipple, Preauricular skin tag, Eyelid coloboma, Limbal... |
OMIM:600268 |
| Isolated Congenital Alacrima |
|
Keratitis, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis |
ORPHA:91416 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Asymmetric, linear skin defects, Failure to thrive, Lacrimal duct atresia |
OMIM:300952 |
| Sympathetic Ophthalmia |
|
Alopecia, Posterior uveitis, Poliosis |
ORPHA:79098 |
| Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Alopecia, Loss of eyelashes, Thin eyebrow, Sparse hair, Downslanted palpebral fissures |
ORPHA:2636 |
| Cutis Marmorata Telangiectatica Congenita |
|
Aplasia/Hypoplasia of the skin, Blue nevus, Multiple cafe-au-lait spots, Skin erosion, Hypothyroi... |
ORPHA:1556 |
| Restrictive Dermopathy |
|
Telecanthus, Entropion, Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glan... |
ORPHA:1662 |
| Branchiooculofacial Syndrome |
|
Preauricular pit, Telecanthus, Hypoplastic fingernail, Supernumerary nipple, Lower lip pit, Nasol... |
OMIM:113620 |
| Kindler Syndrome |
|
Ridged nail, Symblepharon, Spotty hypopigmentation, Periodontitis, Dermal atrophy, Diffuse skin a... |
OMIM:173650 |
| Woodhouse-Sakati Syndrome |
|
Alopecia, Hypothyroidism, Decreased response to growth hormone stimulation test, Aplasia/Hypoplas... |
ORPHA:3464 |
| Pallister-Killian Syndrome |
|
Sparse scalp hair, Telecanthus, Epicanthus, Sparse eyelashes, Alopecia, Supernumerary nipple, Sac... |
OMIM:601803 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Skin rash, Dermal atrophy, Cachexia |
ORPHA:220295 |
| Digeorge Syndrome |
|
Acne, Impaired T cell function, Seborrheic dermatitis, Blepharophimosis, Thrombocytopenia, Spleno... |
OMIM:188400 |
| Woodhouse-Sakati Syndrome |
|
Sparse hair, Alopecia, Fine hair |
OMIM:241080 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Hyperconvex fingernails, Aplasia/Hypoplasia of the skin, Abnormal nasolacrimal system morphology,... |
ORPHA:2658 |
| Myopathy, Tubular Aggregate, 2 |
|
Hypocalcemia, Elevated circulating creatine kinase concentration |
OMIM:615883 |
| Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form |
|
Recurrent skin infections, Glomerulonephritis, Gastrointestinal inflammation, Iron deficiency ane... |
ORPHA:79408 |
| Focal Dermal Hypoplasia |
|
Ridged nail, Brittle hair, Supernumerary nipple, Focal dermal aplasia/hypoplasia, Patchy alopecia... |
OMIM:305600 |
| Immunodeficiency 9 |
|
Death in infancy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Failure to... |
OMIM:612782 |
| Stormorken-Sjaastad-Langslet Syndrome |
|
Asplenia, Abnormality of thrombocytes, Anemia |
ORPHA:3204 |
| Tubular Aggregate Myopathy |
|
|
ORPHA:2593 |
