Isochromosomy Yp |
|
Gynecomastia, Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal i... |
ORPHA:98797 |
Isochromosomy Yq |
|
Gynecomastia, Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Prima... |
ORPHA:98798 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Decreased testicular size, Abnormal ... |
ORPHA:1646 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size |
OMIM:619145 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 73 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Ambiguous genitalia, female, Female infertility, Ambiguous genitalia, m... |
ORPHA:261529 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Oligospermia, Decreased testicular size |
OMIM:619689 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Retinal Dystrophy With Or Without Extraocular Anomalies |
|
Goiter, Secondary amenorrhea, Pulmonary fibrosis, Premature ovarian insufficiency |
OMIM:617175 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Sparse axillary hair, Delayed men... |
ORPHA:52901 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primary amenor... |
OMIM:614837 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Testicular atrophy, Infertility |
OMIM:613909 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Ectodermal Dysplasia With Adrenal Cyst |
|
Breast hypoplasia, Hypohidrosis, Hypoplastic nipples |
OMIM:129550 |
Hypogonadism, Male |
|
Testicular atrophy, Micropenis, Hypospadias, Gynecomastia, Male hypogonadism |
OMIM:241100 |
Spermatogenic Failure 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4 |
|
Honeycomb lung, Pulmonary fibrosis, Premature graying of hair |
OMIM:616371 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Hypoplastic areola, Hypoplastic nipples, Sparse hair, Hypogonadism |
OMIM:273400 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Gynecomastia, Absent vas defe... |
OMIM:312300 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Testicular microlithiasis, Micropenis, Ovarian cyst, ... |
OMIM:228300 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Abnormal sperm head morphology, Oligospermia, Male infertility |
OMIM:619696 |
Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3 |
|
Pulmonary fibrosis, Usual interstitial pneumonia |
OMIM:616373 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Idiopathic Pulmonary Fibrosis |
|
Reticular pattern on pulmonary HRCT, Abnormal pulmonary interstitial morphology, Honeycomb lung, ... |
ORPHA:2032 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 2 |
|
Absent nipple, Male urethral meatus stenosis, Hypoplastic areola, Hypoplastic nipples, Cryptorchi... |
OMIM:616001 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Hydrocephalus-Obesity-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Absent facial hair, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:2183 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagell... |
OMIM:619095 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hypersensitivity Pneumonitis, Familial |
|
Hypersensitivity pneumonitis |
OMIM:145300 |
Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Morbid Obesity And Spermatogenic Failure |
|
Azoospermia, Oligospermia, Infertility, Type II diabetes mellitus |
OMIM:615703 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Impotence, Primary amenorrhea, Secondary amenorrhea, Increased female libido, Hypoplasia of the u... |
ORPHA:432 |
Breasts And/Or Nipples, Aplasia Or Hypoplasia Of, 1 |
|
Absent nipple, Aplasia/Hypoplasia of the nipples, Aplasia/Hypoplasia of the breasts, Hypoplastic ... |
OMIM:113700 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Micropenis, Decreased circulating follicle stimulatin... |
OMIM:614897 |
Kennedy Disease |
|
Testicular atrophy, Type II diabetes mellitus, Gynecomastia, Erectile dysfunction, Decreased fert... |
ORPHA:481 |
Cystic Hamartoma Of Lung And Kidney |
|
Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:2111 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Ectodermal Dysplasia 11B, Hypohidrotic/Hair/Tooth Type, Autosomal Recessive |
|
Absent nipple, Sparse scalp hair, Sparse hair, Absent eyebrow, Sparse eyelashes, Sparse body hair... |
OMIM:614941 |
Cerebellar Ataxia-Hypogonadism Syndrome |
|
Supernumerary nipple, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary ax... |
ORPHA:1173 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Hemochromatosis, Type 2A |
|
Amenorrhea, Hypogonadotropic hypogonadism, Infertility, Azoospermia |
OMIM:602390 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Immotile sperm, Male infertility, Abnormal sperm morphology |
OMIM:608653 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Pulmonary fibrosis, Hypohidrosis, Alopecia |
OMIM:615704 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Abnormal hair morphology, Macroor... |
ORPHA:3000 |
Interstitial Lung Disease 2 |
|
Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pulmonary f... |
OMIM:178500 |
Spermatogenic Failure 26 |
|
Acephalic spermatozoa, Infertility |
OMIM:617961 |
Pulmonary Hemosiderosis |
|
Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis |
OMIM:178550 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Aplasia/hypoplasia of the uterus, Azoospermia, Bicornuate uterus, Low posterior hairline |
ORPHA:2578 |
Spermatogenic Failure 16 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 21 |
|
Acephalic spermatozoa, Infertility, Reduced sperm motility |
OMIM:617644 |
46,Xx Gonadal Dysgenesis |
|
Aplasia/Hypoplasia of the breasts, Streak ovary, Primary amenorrhea, Sparse pubic hair, Secondary... |
ORPHA:243 |
Nipples, Supernumerary |
|
Supernumerary nipple |
OMIM:163700 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Azoospermia, Hypogonadism |
OMIM:615234 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrocephalic sperm head |
OMIM:243060 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia |
OMIM:613724 |
Maternal Uniparental Disomy Of Chromosome X |
|
Inverted nipples, Ambiguous genitalia, Primary gonadal insufficiency, Azoospermia, Gonadal tissue... |
ORPHA:261519 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Limb-Mammary Syndrome |
|
Hypohidrosis, Hypoplastic nipples |
OMIM:603543 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Reduced sperm motility, Microcephalic sperm head, Short sperm flagella, Ta... |
OMIM:617959 |
Pterygia, Mental Retardation, And Distinctive Craniofacial Features |
|
Hypospadias, External genital hypoplasia, Hypoplastic nipples |
OMIM:177980 |
Familial Supernumerary Nipples |
|
Supernumerary nipple |
ORPHA:2456 |
Diethylstilbestrol Syndrome |
|
Hypoplasia of the uterus, Cryptorchidism, Breast carcinoma, Micropenis, Hypospadias, Decreased fe... |
ORPHA:1916 |
Martin-Probst Syndrome |
|
Chordee, Wide intermamillary distance, Bifid scrotum, Micropenis, Hypoplastic nipples, Hypothyroi... |
OMIM:300519 |
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism |
|
Labial hypoplasia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distich... |
OMIM:211370 |
Scarf Syndrome |
|
Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hypoplastic nipples, Crypto... |
ORPHA:3134 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5 |
|
Pulmonary fibrosis |
OMIM:618674 |
Ulnar-Mammary Syndrome |
|
Hypoplasia of penis, Hypoplastic nipples, Breast aplasia, Abnormality of the uterus, Delayed pube... |
ORPHA:3138 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Decreased cir... |
OMIM:300200 |
46,Xx Sex Reversal 1 |
|
Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Gyn... |
OMIM:400045 |
17-Beta Hydroxysteroid Dehydrogenase Iii Deficiency |
|
Infertility, Male pseudohermaphroditism, Gynecomastia, Female external genitalia in individual wi... |
OMIM:264300 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal pulmonary interstitial morphology |
ORPHA:401835 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Gynecomastia, Testicular atrophy, Decreased fertility |
OMIM:313200 |
Nablus Mask-Like Facial Syndrome |
|
Labial hypoplasia, Low anterior hairline, Sparse hair, Sparse eyebrow, Micropenis, Sparse eyelash... |
OMIM:608156 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Azoospermia, Absent vas deferens |
OMIM:300985 |
Hidrotic Ectodermal Dysplasia, Halal Type |
|
Sparse scalp hair, Absent eyebrow, Supernumerary nipple, Sparse body hair, Irregular menstruation... |
ORPHA:1809 |
Riddle Syndrome |
|
Pulmonary fibrosis |
OMIM:611943 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Crazy paving pattern, Absent bronchoalveolar surfactant-protein C, Nodular pattern on pulmonary H... |
OMIM:610921 |
Scarf Syndrome |
|
Low anterior hairline, Wide intermamillary distance, Sparse hair, Bifid scrotum, Micropenis, Hypo... |
OMIM:312830 |
46,Xx Sex Reversal 2 |
|
Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
49,Xyyyy Syndrome |
|
Abnormality of the testis size, Decreased serum testosterone concentration, External genital hypo... |
ORPHA:99330 |
47,Xyy Syndrome |
|
Increased circulating gonadotropin level, Increased serum testosterone level, Micropenis, Hypospa... |
ORPHA:8 |
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:280679 |
Ichthyosis With Confetti |
|
Hypertrichosis, Hypoplastic nipples |
OMIM:609165 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Alopecia, Hypogonadotropic hypogonadism, Diabetes mell... |
OMIM:235200 |
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant |
|
Absent nipple, Anhidrosis, Absent hair, Sparse hair |
OMIM:614940 |
Bone Marrow Failure Syndrome 5 |
|
Testicular atrophy, Hypogonadism |
OMIM:618165 |
Cystic Fibrosis |
|
Exocrine pancreatic insufficiency, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:586 |
Chronic Beryllium Disease |
|
Reticulonodular pattern on pulmonary HRCT, Lymphocytic interstitial pneumonia, Hypersensitivity p... |
ORPHA:133 |
Sarcoidosis, Susceptibility To, 2 |
|
Abnormal pulmonary interstitial morphology, Pleural effusion, Bronchiectasis, Pneumothorax, Eleva... |
OMIM:612387 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2 |
|
Premature graying of hair, Pulmonary fibrosis |
OMIM:614743 |
Limb-Mammary Syndrome |
|
Absent nipple, Sparse eyebrow, Alopecia, Bilateral breast hypoplasia, Primary amenorrhea, Hypopla... |
ORPHA:69085 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Impotence, Sparse eyebrow, Streak ovary, Hypergonadotropic hypogonadism, Alopecia, Primary amenor... |
ORPHA:2232 |
Barber-Say Syndrome |
|
Generalized hirsutism, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Hypoplastic... |
ORPHA:1231 |
Ring Chromosome 21 Syndrome |
|
Amenorrhea, Azoospermia, Infertility, Diabetes insipidus |
ORPHA:1445 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1 |
|
Premature graying of hair, Pulmonary fibrosis, Reticular pattern on pulmonary HRCT, Usual interst... |
OMIM:614742 |
Hermansky-Pudlak Syndrome 4 |
|
Albinism, Pulmonary fibrosis, Menorrhagia |
OMIM:614073 |
48,Xyyy Syndrome |
|
Azoospermia, Male hypogonadism, Primary gonadal insufficiency |
ORPHA:99329 |
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities |
|
Cryptorchidism, Hypoplastic nipples |
OMIM:618505 |
Hereditary Mucoepithelial Dysplasia |
|
Sparse hair, Alopecia, Fine hair, Pulmonary fibrosis, Recurrent respiratory infections |
ORPHA:1839 |
Ovarian Dysgenesis 2 |
|
Hirsutism, Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenor... |
OMIM:300510 |
Ciliary Dyskinesia, Primary, 40 |
|
Azoospermia, Infertility, Absent outer dynein arms |
OMIM:618300 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Absent bronchoalveolar surfactant-protein C, Desquamative interstitial pneumonitis, Cystic patter... |
OMIM:610913 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Fair hair, Wide intermamillary distance, Sparse axillary hair, ... |
OMIM:103285 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Decreased response to growth hormone stimulation test, Hypergonadotropic hypogonadism, Decreased ... |
OMIM:300845 |
Acute Interstitial Pneumonia |
|
Interlobular septal thickening, Subpleural honeycombing, Nodular pattern on pulmonary HRCT, Retic... |
ORPHA:79126 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Azoospermia, Hypoplasia of the uterus, Bicornuate uterus |
OMIM:601076 |
Androgen Insensitivity Syndrome |
|
Ambiguous genitalia, male, Sparse axillary hair, Male pseudohermaphroditism, Absent pubic hair, A... |
ORPHA:754 |
48,Xxyy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Hypergonadotropic hypogonadism, Gyne... |
ORPHA:10 |
Adult Syndrome |
|
Absent nipple, Sparse scalp hair, Alopecia, Hypoplastic nipples, Breast hypoplasia, Fine hair |
ORPHA:978 |
Sialuria |
|
Generalized hirsutism, Synophrys, Low posterior hairline, Hypoplastic nipples |
OMIM:269921 |
Trichoodontoonychial Dysplasia With Bone Deficiency |
|
Sparse hair, Supernumerary nipple, Nail dystrophy |
OMIM:275450 |
Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Absent nipple, Sparse hair |
OMIM:129510 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Nodular pattern on pulmonary HRCT |
ORPHA:60026 |
Interstitial Lung Disease 1 |
|
Interlobular septal thickening, Intralobular septal thickening, Elevated bronchoalveolar lavage f... |
OMIM:619611 |
Braddock Syndrome |
|
Abnormal hair pattern, Wide intermamillary distance, Pulmonary fibrosis |
ORPHA:52047 |
Czeizel-Losonci Syndrome |
|
Wide intermamillary distance, Pulmonary hypoplasia, Hypoplastic nipples |
ORPHA:2437 |
46,Xx Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Abnormal male internal genitalia morphology, Hypoplasia of penis, Bifid... |
ORPHA:2138 |
Choroidal Atrophy-Alopecia Syndrome |
|
Fine hair, Sparse hair, Sparse or absent eyelashes, Supernumerary nipple |
ORPHA:1433 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Decreased response to growth hormone stimulation test, Cystic pattern on pulmonary HRCT, Compensa... |
OMIM:610978 |
46,Xy Sex Reversal 1 |
|
Sex reversal, Male pseudohermaphroditism, Abnormality of male external genitalia, Primary amenorr... |
OMIM:400044 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Absent nipple, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Absent eyebrow, B... |
OMIM:305100 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Micropenis, Hypogonadotropic hypog... |
OMIM:308750 |
Testicular Germ Cell Tumor |
|
Azoospermia |
OMIM:273300 |
Limited Cutaneous Systemic Sclerosis |
|
Pulmonary fibrosis |
ORPHA:220402 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Pulmonary fibrosis, Decreased response to growth hormone stimulation test, Decreased testicular size |
ORPHA:457240 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Becker Nevus Syndrome |
|
Hypoplastic labia minora, Abnormality of the scrotum, Supernumerary nipple, Aplasia/Hypoplasia of... |
ORPHA:64755 |
Asbestos Intoxication |
|
Interlobular septal thickening, Lung adenocarcinoma, Pleural thickening, Subpleural honeycombing,... |
ORPHA:2302 |
Barber-Say Syndrome |
|
Absent nipple, Inverted nipples, Hypertrichosis, Low anterior hairline, Sparse eyebrow, Sparse ey... |
OMIM:209885 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3 |
|
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse eyebr... |
OMIM:604292 |
Incontinentia Pigmenti |
|
Sparse hair, Supernumerary nipple, Alopecia, Coarse hair, Atrophic, patchy alopecia, Hypoplastic ... |
OMIM:308300 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Premature graying of hair, Pulmonary fibrosis, Nail dystrophy |
OMIM:619767 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Pituitary gonadotropic cell adenoma, Enlarge... |
ORPHA:91348 |
Global Developmental Delay With Speech And Behavioral Abnormalities |
|
Cryptorchidism, Precocious puberty, Supernumerary nipple |
OMIM:619243 |
Fanconi Renotubular Syndrome 5 |
|
Lung adenocarcinoma, Pulmonary fibrosis, Emphysema |
OMIM:618913 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Bronchiolitis, Pulmonary fibrosis |
ORPHA:254361 |
Skin Creases, Congenital Symmetric Circumferential, 1 |
|
Wide intermamillary distance, Hypoplastic nipples |
OMIM:156610 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
|
Pulmonary fibrosis, Abnormal pleura morphology |
ORPHA:210136 |
Idiopathic Pulmonary Hemosiderosis |
|
Diffuse alveolar hemorrhage, Pulmonary fibrosis, Reticular pattern on pulmonary HRCT, Nodular pat... |
ORPHA:99931 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Sparse scalp hair, Fair hair, Decreased response to growth hormone stimulation test, Sparse hair,... |
OMIM:129900 |
Gapo Syndrome |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Alopecia, Hypoplastic nipples, Breast hypoplasia |
OMIM:230740 |
48,Xxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Gynecomastia, Decreased testicular s... |
ORPHA:96263 |
Immunodeficiency 60 And Autoimmunity |
|
Bronchiectasis, Recurrent sinopulmonary infections, Pulmonary fibrosis |
OMIM:618394 |
Ulnar-Mammary Syndrome |
|
Inverted nipples, Bicornuate uterus, Imperforate hymen, Micropenis, Axillary apocrine gland hypop... |
OMIM:181450 |
Trichohepatoneurodevelopmental Syndrome |
|
Cholelithiasis, Hypertrichosis, Woolly hair, Coarse hair, Hypoplastic nipples, Synophrys, Curly hair |
OMIM:618268 |
Cornelia De Lange Syndrome 1 |
|
Hirsutism, Hypospadias, Highly arched eyebrow, Curly eyelashes, Hypoplastic nipples, Long eyelash... |
OMIM:122470 |
Aspergillosis |
|
Hypersensitivity pneumonitis, Pleuritis, Pneumonia, Pleural effusion, Bronchiectasis, Pulmonary f... |
ORPHA:1163 |
Intellectual Developmental Disorder, Autosomal Dominant 47 |
|
Thin eyebrow, Cryptorchidism, Supernumerary nipple |
OMIM:617635 |
Mgat2-Cdg |
|
Inverted nipples, Hirsutism, Recurrent upper and lower respiratory tract infections, Hypoplastic ... |
ORPHA:79329 |
Alg9-Cdg |
|
Inverted nipples, Hypertrichosis, Hypoplasia of the ovary, Bicornuate uterus, Hypoplastic nipples... |
ORPHA:79328 |
49,Xxxxy Syndrome |
|
Infertility, Type II diabetes mellitus, Hypoplasia of penis, Gynecomastia, Decreased testicular s... |
ORPHA:96264 |
Scedosporiosis |
|
Pleural empyema, Pleuritis, Bronchitis, Pneumonia, Pulmonary fibrosis |
ORPHA:449280 |
Antisynthetase Syndrome |
|
Xerostomia, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Recurrent respiratory... |
ORPHA:81 |
Autoimmune Interstitial Lung, Joint, And Kidney Disease |
|
Pulmonary hemorrhage, Hemosiderin-laden macrophages in bronchoalveolar fluid, Abnormal pulmonary ... |
OMIM:616414 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Hypertrichosis, Bicornuate uterus, Micropenis, Hypospadias, Splenopancreatic fusion, Hypoplastic ... |
OMIM:269150 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
|
Pulmonary fibrosis |
OMIM:611926 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Hypospadias, Absence of labia majora, Cryptorchidism, Hypoplastic nipples |
OMIM:265000 |
Short-Rib Thoracic Dysplasia 12 |
|
Ambiguous genitalia, Wide intermamillary distance, Hypoplastic nipples |
OMIM:269860 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome |
|
Low-set nipples, Peripheral pulmonary artery stenosis, Sparse hair, Hypoplastic nipples, Fine hair |
OMIM:280000 |
19Q13.11 Microdeletion Syndrome |
|
Wide intermamillary distance, Sparse hair, Supernumerary nipple, Bifid scrotum, Hypospadias, Spar... |
ORPHA:217346 |
46,Xy Ovotesticular Disorder Of Sex Development |
|
Urogenital sinus anomaly, Chordee, Abnormality of the clitoris, Micropenis, Bifid scrotum, Abnorm... |
ORPHA:325345 |
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts |
|
Adrenal insufficiency, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadi... |
ORPHA:300298 |
Niemann-Pick Disease, Type B |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:607616 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Chronic bronchitis, Recurrent lower respiratory tract infections, Recurrent sinusitis, Recurrent ... |
OMIM:618986 |
Familial Glucocorticoid Deficiency |
|
Adrenal insufficiency, Decreased circulating aldosterone level, Precocious puberty, Leydig cell n... |
ORPHA:361 |
Woods Syndrome |
|
Supernumerary nipple, Frontal hirsutism |
OMIM:615236 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Nail dystrophy, Hypoplastic nipples |
ORPHA:261323 |
Diffuse Cutaneous Systemic Sclerosis |
|
Xerostomia, Pulmonary fibrosis, Dyspareunia |
ORPHA:220393 |
Tyshchenko Syndrome |
|
Thick hair, Cryptorchidism, Low anterior hairline, Supernumerary nipple |
OMIM:615102 |
Felty Syndrome |
|
Pleuritis, Recurrent pharyngitis, Recurrent pneumonia, Pulmonary fibrosis, Recurrent respiratory ... |
ORPHA:47612 |
Polymyositis |
|
Breast carcinoma, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology |
ORPHA:732 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Synophrys, Supernumerary nipple |
OMIM:616083 |
Mixed Connective Tissue Disease |
|
Alopecia, Xerostomia, Abnormal pulmonary interstitial morphology, Pleuritis, Pulmonary fibrosis |
ORPHA:809 |
H Syndrome |
|
Amenorrhea, Abnormal eyebrow morphology, Hypertrichosis, Micropenis, Alopecia, Gynecomastia, Decr... |
ORPHA:168569 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Sparse hair, Alopecia, Interstitial pneumonitis, Nail dystrophy, Premature graying of hair, Pulmo... |
OMIM:127550 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Cornelia De Lange Syndrome |
|
Generalized hirsutism, Low anterior hairline, Thick eyebrow, Hypoplasia of penis, Hypospadias, Pr... |
ORPHA:199 |
Acces Syndrome |
|
Sparse scalp hair, Supernumerary nipple, Recurrent respiratory infections |
OMIM:619959 |
8P11.2 Deletion Syndrome |
|
Hypoplasia of penis, Hypogonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axi... |
ORPHA:251066 |
Immunodeficiency 85 And Autoimmunity |
|
Pulmonary fibrosis, Recurrent respiratory infections |
OMIM:619510 |
Brain-Lung-Thyroid Syndrome |
|
Hypoparathyroidism, Thyroid dysgenesis, Compensated hypothyroidism, Congenital hypothyroidism, Ab... |
ORPHA:209905 |
Sting-Associated Vasculopathy, Infantile-Onset |
|
Nail dystrophy, Pulmonary fibrosis, Sparse hair, Recurrent respiratory infections |
OMIM:615934 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate |
|
Vaginal dryness, Supernumerary nipple, Patchy alopecia, Micropenis, Sparse body hair, Hypospadias... |
OMIM:106260 |
Pulmonary Alveolar Microlithiasis |
|
Interlobular septal thickening, Subpleural interstitial thickening, Pleural thickening, Testicula... |
ORPHA:60025 |
Ring Chromosome 22 Syndrome |
|
Azoospermia, Thick eyebrow |
ORPHA:1446 |
Diffuse Alveolar Hemorrhage |
|
Irregular septal thickening on pulmonary HRCT, Pulmonary fibrosis |
ORPHA:90060 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Premature graying of hair, Alopecia, Fine hair, Cryptorchidism, Pulmonary fibrosis |
OMIM:613990 |
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome |
|
Hypospadias, Supernumerary nipple, Alopecia |
ORPHA:3224 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Recurrent sinusitis, Recurrent upper respiratory tract infections, Abnormal pulmonary interstitia... |
OMIM:613101 |
Ablepharon-Macrostomia Syndrome |
|
Sparse hair, Absent eyebrow, Micropenis, Hypoplastic nipples, Ambiguous genitalia, Absent eyelash... |
OMIM:200110 |
Fontaine Progeroid Syndrome |
|
Absent nipple, Sparse scalp hair, Hypertrichosis, Low anterior hairline, Micropenis, Coarse hair,... |
OMIM:612289 |
Deafness-Hypogonadism Syndrome |
|
Hypergonadotropic hypogonadism, Abnormal spermatogenesis, Delayed puberty |
ORPHA:90646 |
Myotonic Dystrophy 1 |
|
Cholelithiasis, Frontal balding, Testicular atrophy, Hypogonadism |
OMIM:160900 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Galactorrhea, Panhypopituitarism, Oligomenorrhea, Oligosper... |
ORPHA:91351 |
Granulomatous Disease, Chronic, Autosomal Recessive, 5 |
|
Acute pancreatitis, Pulmonary fibrosis, Recurrent pneumonia, Pleural effusion |
OMIM:618935 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Micropenis, Hypogonadotropic hypogonadism, Gynecomastia, Primar... |
ORPHA:478 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Sparse scalp hair, Pulmonary fibrosis, Nail dystrophy, Sparse eyelashes |
OMIM:224230 |
Lymphoid Interstitial Pneumonia |
|
Subpleural interstitial thickening, Multiple pulmonary cysts, Respiratory tract infection, Bronch... |
ORPHA:79128 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Chronic bronchitis, Honeycomb lung, Respiratory tract infection, Emphysema, Bronchiectasis, Hyper... |
ORPHA:79127 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Cryptorchidism, Congenital hypothyroidism, Supernumerary nipple, Micropenis |
ORPHA:2519 |
Filippi Syndrome |
|
Cryptorchidism, Supernumerary nipple |
ORPHA:3255 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypothyroidism, Hypopituitarism, Abnormal pulmonary interstitial morphology |
OMIM:619013 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recurrent upper respirator... |
OMIM:263000 |
Hermansky-Pudlak Syndrome 1 |
|
Albinism, Hypopigmentation of hair, Pulmonary fibrosis |
OMIM:203300 |
Scleroderma |
|
Hypohidrosis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Alopecia |
ORPHA:801 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Supernumerary nipple, Micropenis, Synophrys, Cryptorchidism, Low posterior hairline |
OMIM:618929 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
White forelock, Premature graying of hair, Pulmonary fibrosis, Nail dystrophy |
OMIM:613989 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Hypospadias, Cryptorchidism, Supernumerary nipple |
OMIM:618109 |
2P15P16.1 Microdeletion Syndrome |
|
Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Gynecomastia, Long eyelashes,... |
ORPHA:261349 |
Immunodeficiency 13 |
|
Bronchiolitis obliterans organizing pneumonia, Recurrent upper respiratory tract infections, Recu... |
OMIM:615518 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Testicular atrophy |
OMIM:601163 |
Erdheim-Chester Disease |
|
Hypogonadotropic hypogonadism, Abnormal pulmonary interstitial morphology, Pleural effusion, Pulm... |
ORPHA:35687 |
Johanson-Blizzard Syndrome |
|
Sparse scalp hair, Fair hair, Micropenis, Hypospadias, Frontal upsweep of hair, Septate vagina, H... |
OMIM:243800 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Hirsutism, Increased ci... |
ORPHA:786 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Focal Dermal Hypoplasia |
|
Labial hypoplasia, Supernumerary nipple, Sparse hair, Brittle hair, Patchy alopecia, Clitoral hyp... |
OMIM:305600 |
Interstitial Lung And Liver Disease |
|
Hypothyroidism, Intraalveolar phospholipid accumulation, Abnormal pulmonary interstitial morpholo... |
OMIM:615486 |
Blepharophimosis With Facial And Genital Anomalies And Mental Retardation |
|
Low anterior hairline, Supernumerary nipple, Hypospadias, Glandular hypospadias, Long eyelashes, ... |
OMIM:604314 |
Carpenter Syndrome 2 |
|
Low anterior hairline, Wide intermamillary distance, Supernumerary nipple, Cryptorchidism, Microp... |
OMIM:614976 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Inverted nipples, Wide intermamillary distance, External genital hypoplasia, Frontal hirsutism, H... |
ORPHA:96334 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Chordee, Supernumerary nipple, Synophrys, Cryptorchidism, Highly arched eyebrow |
OMIM:616728 |
Acute Lung Injury |
|
Abnormal pulmonary interstitial morphology, Diffuse alveolar hemorrhage, Pneumonia, Acute pancrea... |
ORPHA:178320 |
Developmental And Epileptic Encephalopathy 51 |
|
Supernumerary nipple |
OMIM:617339 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Recurrent aspiration pneumonia, Pulmonary hemorrhage, Pulmonary fibrosis, Recurrent respiratory i... |
ORPHA:79124 |
Bronchiolitis Obliterans With Obstructive Pulmonary Disease |
|
Bronchiectasis, Respiratory tract infection, Bronchiolitis obliterans, Pneumonia |
ORPHA:1303 |
Systemic Sclerosis |
|
Hypohidrosis, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology, Alopecia |
ORPHA:90291 |
Immunodeficiency 91 And Hyperinflammation |
|
Pulmonary hemorrhage, Abnormal pulmonary interstitial morphology, Recurrent lower respiratory tra... |
OMIM:619644 |
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency |
|
Spontaneous neonatal pneumothorax, Interstitial pneumonitis, Intraalveolar phospholipid accumulat... |
ORPHA:217563 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Fin... |
ORPHA:1812 |
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Chordee, Hypertrichosis, Supernumerary nipple, Sparse eyebrow, Hypospadias, Sy... |
ORPHA:477993 |
Alpha-Thalassemia/Mental Retardation Syndrome, Chromosome 16-Related |
|
Hypospadias, Cryptorchidism, Supernumerary nipple, Micropenis |
OMIM:141750 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Long eyelashes, Pulmonary fibrosis, Menometrorrhagia |
ORPHA:79430 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Anteriorly displaced genitalia, Hypospadias, Hypoplastic nipples, Aplasia of the uterus, Cryptorc... |
OMIM:276820 |
Hermansky-Pudlak Syndrome 2 |
|
Albinism, Pulmonary fibrosis, Recurrent pneumonia, Fair hair |
OMIM:608233 |
Riddle Syndrome |
|
Abnormal pulmonary interstitial morphology, Recurrent sinusitis, Bronchitis, Recurrent pneumonia,... |
ORPHA:420741 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Nail dystrophy |
OMIM:613987 |
Woodhouse-Sakati Syndrome |
|
Hypoplasia of the uterus, Hyperinsulinemia, Decreased serum testosterone concentration, Decreased... |
ORPHA:3464 |
Tessadori-Van Haaften Neurodevelopmental Syndrome 4 |
|
Cryptorchidism, Highly arched eyebrow, Supernumerary nipple, Micropenis |
OMIM:619951 |
Symptomatic Form Of Hemochromatosis Type 1 |
|
Amenorrhea, Infertility, Testicular atrophy, Decreased serum testosterone concentration, Hypogona... |
ORPHA:465508 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Supernumerary nipple, Sparse eyebrow, Bifid uterus, Abnormal reproductive system morphology, Apla... |
ORPHA:1521 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Cryptorchidism, Supernumerary nipple, Sparse eyebrow |
OMIM:612530 |
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis |
|
Pulmonary fibrosis |
OMIM:612852 |
Acrorenal-Mandibular Syndrome |
|
Absent nipple, Bicornuate uterus, Uterus didelphys, Unicornuate uterus, Abnormality of the breast |
OMIM:200980 |
Chitayat Syndrome |
|
Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617180 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Supernumerary nipple, Cryptorchidism, Highly arched eyebrow, Microphallus, Small scrotum |
OMIM:618454 |
Postaxial Acrofacial Dysostosis |
|
Supernumerary nipple |
ORPHA:246 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Hypoplasia of the thymus, Bronchiolitis obliterans |
OMIM:617241 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Exocrine pancreatic insufficiency, Desquamative interstitial pneumonitis, Recurrent upper respira... |
OMIM:615952 |
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features |
|
Supernumerary nipple, Recurrent respiratory infections |
OMIM:616579 |
Sarcoidosis, Susceptibility To, 1 |
|
Abnormal pulmonary interstitial morphology, Abnormal salivary gland morphology, Enlarged lacrimal... |
OMIM:181000 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Decreased response to growth hormone stimulation test, Micropenis, Hypergonadotropic hypogonadism... |
OMIM:602782 |
Bloom Syndrome |
|
Hypertrichosis, Type II diabetes mellitus, Decreased fertility in females, Azoospermia, Cryptorch... |
OMIM:210900 |
Bainbridge-Ropers Syndrome |
|
Hirsutism, Precocious puberty, Thick eyebrow, Supernumerary nipple, Sparse hair, Thin eyebrow, Lo... |
OMIM:615485 |
Trisomy 12P |
|
Thick eyebrow, Supernumerary nipple |
ORPHA:1699 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Testicular atrophy, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary amenorrhea, Pre... |
OMIM:157640 |
Kleefstra Syndrome |
|
Hypoplasia of penis, Supernumerary nipple, Micropenis, Hypospadias, Synophrys, Cryptorchidism, Hi... |
ORPHA:261494 |
Reactive Arthritis |
|
Pulmonary fibrosis, Abnormal pleura morphology, Dystrophic fingernails |
ORPHA:29207 |
Bloom Syndrome |
|
Patchy alopecia, Sparse eyelashes, Oligospermia, Neoplasm of the breast, Male infertility, Diabet... |
ORPHA:125 |
Primary Ciliary Dyskinesia |
|
Anomalous pulmonary venous return, Female infertility, Pulmonary situs ambiguus, Male infertility... |
ORPHA:244 |
Char Syndrome |
|
Supernumerary nipple |
ORPHA:46627 |
Postaxial Acrofacial Dysostosis |
|
Cryptorchidism, Supernumerary nipple, Micropenis |
OMIM:263750 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Supernumerary nipple |
OMIM:614376 |
Pitt-Hopkins Syndrome |
|
Supernumerary nipple, Micropenis, Frontal upsweep of hair, Sparse medial eyebrow, Cryptorchidism |
OMIM:610954 |
Typhoid |
|
Abnormal pulmonary interstitial morphology |
ORPHA:99745 |
Autoimmune Lymphoproliferative Syndrome |
|
Thyroiditis, Fibroadenoma of the breast, Pulmonary fibrosis, Premature ovarian insufficiency, Pan... |
ORPHA:3261 |
Dermatomyositis |
|
Lung adenocarcinoma, Abnormal hair quantity, Breast carcinoma, Abnormal pulmonary interstitial mo... |
ORPHA:221 |
Branchioskeletogenital Syndrome |
|
Absent nipple, Absent external genitalia, Micropenis, Penoscrotal hypospadias, Synophrys, Highly ... |
ORPHA:1299 |
Juvenile Dermatomyositis |
|
Pulmonary fibrosis, Alopecia |
ORPHA:93672 |
Wild Type Attr Amyloidosis |
|
Pleural effusion, Pulmonary edema, Abnormal pulmonary interstitial morphology |
ORPHA:330001 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Absent nipple |
OMIM:104350 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary nipple, Widow's peak |
OMIM:619122 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Recurrent upper and lower respiratory tract infections, Hypertrichosis, Cyst of the ductus choled... |
ORPHA:480880 |
Dyskeratosis Congenita, X-Linked |
|
Premature graying of hair, Sparse eyelashes, Alopecia, Decreased testicular size, Nail dystrophy,... |
OMIM:305000 |
2Q37 Microdeletion Syndrome |
|
Sparse scalp hair, Wide intermamillary distance, Supernumerary nipple, Sparse eyebrow, Highly arc... |
ORPHA:1001 |
Niemann-Pick Disease, Type C2 |
|
Pulmonary fibrosis |
OMIM:607625 |
Al Amyloidosis |
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Autonomic erectile dysfunction, Xerostomia, Abnormal pulmonary interstitial morphology, Abnormal ... |
ORPHA:85443 |
Granulomatosis With Polyangiitis |
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Prostatitis, Pancreatitis, Recurrent intrapulmonary hemorrhage, Pleuritis, Pulmonary fibrosis, Re... |
ORPHA:900 |
Bohring-Opitz Syndrome |
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Hirsutism, Hypertrichosis, Low anterior hairline, Supernumerary nipple, Wide intermamillary dista... |
OMIM:605039 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
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Interlobular septal thickening, Desquamative interstitial pneumonitis, Intraalveolar phospholipid... |
OMIM:265120 |
Sarcoidosis |
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Chylothorax, Hyperthyroidism, Alopecia, Abnormal pleura morphology, Pneumothorax, Hypothyroidism,... |
ORPHA:797 |
3Mc Syndrome |
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Bilateral cryptorchidism, Highly arched eyebrow, Supernumerary nipple |
ORPHA:293843 |
Aarskog-Scott Syndrome |
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Testicular atrophy, Decreased serum testosterone concentration, Cryptorchidism, Elevated circulat... |
OMIM:305400 |
Autosomal Dominant Cerebellar Ataxia |
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Azoospermia |
ORPHA:99 |
Hermansky-Pudlak Syndrome 10 |
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Albinism, Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:617050 |
Bronchial Neuroendocrine Tumor |
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Abnormal pulmonary interstitial morphology, Elevated circulating growth hormone concentration, Pn... |
ORPHA:97287 |
Wolfram Syndrome 1 |
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Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus |
OMIM:222300 |
Fanconi Anemia |
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Absent testis, Bicornuate uterus, Abnormal preputium morphology, Decreased fertility in males, Hy... |
ORPHA:84 |
Diphallia |
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Distal urethral duplication, Bifid scrotum, Hypospadias, Rectoperineal fistula, Bifid penis, Ecto... |
ORPHA:227 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
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Hypertrichosis, Low anterior hairline, Thick eyebrow, Supernumerary nipple, Decreased response to... |
OMIM:213980 |
Autoimmune Polyendocrinopathy Type 3 |
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Graves disease, Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Autoimmune hypoparathyroidi... |
ORPHA:227982 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
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Sparse hair, Sparse eyebrow, Sparse eyelashes, Supernumerary nipple, Coarse hair, Hypohidrosis, D... |
ORPHA:1071 |
Immune-Mediated Necrotizing Myopathy |
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Abnormal pulmonary interstitial morphology |
ORPHA:206569 |
Yunis-Varon Syndrome |
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Absent nipple, Sparse scalp hair, Sparse eyebrow, Micropenis, Sparse eyelashes, Hypospadias, Hypo... |
OMIM:216340 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
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Cholelithiasis, Azoospermia, Pulmonary fibrosis, Abnormal pulmonary interstitial morphology |
ORPHA:2072 |
Idiopathic Hypereosinophilic Syndrome |
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Pancreatitis, Pulmonary fibrosis, Pleural effusion |
ORPHA:3260 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
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Pulmonary fibrosis, Recurrent respiratory infections |
OMIM:618278 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Alopecia universalis, Patchy alopecia, Hypothyroidism, Pulmonary interstitial lymphocyte infiltra... |
OMIM:606367 |
Autoimmune Polyendocrinopathy Type 4 |
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Alopecia, Hypergonadotropic hypogonadism, Xerostomia, Abnormal pulmonary interstitial morphology,... |
ORPHA:227990 |
Hyperphosphatasia-Intellectual Disability Syndrome |
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Highly arched eyebrow, Supernumerary nipple |
ORPHA:247262 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
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Hypospadias, Wide intermamillary distance, Supernumerary nipple |
ORPHA:397715 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Supernumerary nipple |
ORPHA:457279 |
Pitt-Hopkins Syndrome |
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Cryptorchidism, Supernumerary nipple, Micropenis |
ORPHA:2896 |
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
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Cryptorchidism, Highly arched eyebrow, Supernumerary nipple, Micropenis |
OMIM:618653 |
Gaucher Disease |
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Pulmonary fibrosis, Abnormal pulmonary interstitial morphology |
ORPHA:355 |
Bannayan-Riley-Ruvalcaba syndrome |
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Hashimoto thyroiditis, Supernumerary nipple, Long penis |
OMIM:153480 |
Incontinentia Pigmenti |
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Supernumerary nipple, Alopecia, Dystrophic toenail, Abnormal hair morphology, Hyperhidrosis |
ORPHA:464 |
Idiopathic Chronic Eosinophilic Pneumonia |
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Hypersensitivity pneumonitis, Pleural effusion |
ORPHA:2902 |
Oliver Syndrome |
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Thick eyebrow, Supernumerary nipple |
ORPHA:2920 |
Lesch-Nyhan Syndrome |
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Testicular atrophy |
OMIM:300322 |
Gaucher Disease, Type I |
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Abnormal pulmonary interstitial morphology |
OMIM:230800 |
Chromosome 13Q14 Deletion Syndrome |
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Cryptorchidism, Supernumerary nipple, Micropenis |
OMIM:613884 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Cryptorchidism, Supernumerary nipple, High anterior hairline |
OMIM:619194 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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Hypothyroidism, Cryptorchidism, Inverted nipples, Supernumerary nipple |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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Hypothyroidism, Cryptorchidism, Inverted nipples, Supernumerary nipple |
ORPHA:352665 |
Renal Cysts And Diabetes Syndrome |
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Hypoplasia of the uterus, Bicornuate uterus, Atretic vas deferens, Reduced sperm motility, Maturi... |
OMIM:137920 |
Craniosynostosis-Mental Retardation Syndrome Of Lin And Gettig |
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Wide intermamillary distance, Ambiguous genitalia, male, Supernumerary nipple, Micropenis, Hyposp... |
OMIM:218649 |
Overlap Myositis |
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Abnormal pulmonary interstitial morphology |
ORPHA:206572 |
Oculocerebrorenal Syndrome Of Lowe |
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Sparse scalp hair, Abnormal calcium-phosphate regulating hormone level, Hyperaldosteronism, Fine ... |
ORPHA:534 |
Primary Fanconi Renotubular Syndrome |
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Pulmonary fibrosis |
ORPHA:3337 |
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome |
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Supernumerary nipple |
ORPHA:1236 |
Simpson-Golabi-Behmel Syndrome |
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Hypoplasia of penis, Supernumerary nipple, Hypospadias, Pancreatic islet-cell hyperplasia, Crypto... |
ORPHA:373 |
Gaucher Disease Type 1 |
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Abnormal pulmonary interstitial morphology |
ORPHA:77259 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Gynecomastia, Abnormal pulmonary interstitia... |
OMIM:614748 |
Fusariosis |
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Hypersensitivity pneumonitis, Pleural effusion, Pneumonia, Bronchiectasis, Lung abscess, Pannicul... |
ORPHA:228119 |
Immunodeficiency 97 With Autoinflammation |
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Bronchiolitis obliterans organizing pneumonia, Recurrent sinopulmonary infections |
OMIM:619802 |
Adams-Oliver Syndrome 1 |
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Imperforate hymen, Supernumerary nipple, Alopecia |
OMIM:100300 |
Q Fever |
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Abnormal pulmonary interstitial morphology, Pleural effusion, Pneumonia |
ORPHA:781 |
Hereditary Pulmonary Alveolar Proteinosis |
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Crazy paving pattern, Acute infectious pneumonia |
ORPHA:264675 |
3Mc Syndrome 1 |
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Highly arched eyebrow, Supernumerary nipple |
OMIM:257920 |
Primary Sjögren Syndrome |
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Lymphocytic interstitial pneumonia, Xerostomia, Abnormal pulmonary interstitial morphology, Bronc... |
ORPHA:289390 |
Agammaglobulinemia, X-Linked |
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Prostatitis, Bronchiolitis obliterans, Recurrent lower respiratory tract infections, Recurrent si... |
OMIM:300755 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
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Supernumerary nipple, Cryptorchidism, Delayed puberty, Bilateral cryptorchidism, Anterior pituita... |
ORPHA:466791 |
Oculoectodermal Syndrome |
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Supernumerary nipple |
OMIM:600268 |
X-Linked Intellectual Disability, Snyder Type |
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Testicular atrophy, Wide intermamillary distance, Sparse eyebrow, Hypospadias, Abnormality of the... |
ORPHA:3063 |
Von Hippel-Lindau Syndrome |
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Neoplasm of the pancreas, Papillary cystadenoma of the epididymis, Pheochromocytoma, Paragangliom... |
OMIM:193300 |
Gaucher Disease Type 3 |
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Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
ORPHA:77261 |
Knobloch Syndrome 2 |
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Recurrent respiratory infections, Abnormal pulmonary interstitial morphology |
OMIM:618458 |
Brucellosis |
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Orchitis, Bronchitis, Pulmonary granulomatosis, Pleural effusion, Pneumonia, Lung abscess, Hyperh... |
ORPHA:1304 |
Branchiooculofacial Syndrome |
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Premature graying of hair, Wide intermamillary distance, Sparse hair, Supernumerary nipple, Hypos... |
OMIM:113620 |
Mowat-Wilson Syndrome |
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Supernumerary nipple, Bifid scrotum, Hypospadias, Broad eyebrow, Cryptorchidism |
OMIM:235730 |
Steinert Myotonic Dystrophy |
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Cholelithiasis, Secondary hyperparathyroidism, Testicular atrophy, Impotence, Hyperinsulinemia, D... |
ORPHA:273 |
Kikuchi-Fujimoto Disease |
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Pleural effusion, Enlargement of parotid gland, Abnormal pulmonary interstitial morphology, Alopecia |
ORPHA:50918 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
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Bile duct proliferation, Abnormal pulmonary interstitial morphology, Emphysema |
OMIM:613658 |
Kawasaki Disease |
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Abnormality of nail color, Recurrent pharyngitis, Abnormal pulmonary interstitial morphology |
ORPHA:2331 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
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Hypertrichosis, Wide intermamillary distance, Supernumerary nipple, Short nail, Hypospadias, Panc... |
OMIM:312870 |
Aarskog Syndrome, Autosomal Dominant |
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Cryptorchidism, Abnormal pulmonary interstitial morphology, Widow's peak |
OMIM:100050 |
Chronic Graft Versus Host Disease |
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Bronchiolitis obliterans, Alopecia, Xerostomia, Pneumothorax, Pleural effusion, Nail dystrophy, B... |
ORPHA:99921 |
Pallister-Killian Syndrome |
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Sparse scalp hair, Labial hypoplasia, Supernumerary nipple, Sparse hair, Alopecia, Sparse eyebrow... |
OMIM:601803 |
Autoimmune Pulmonary Alveolar Proteinosis |
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Crazy paving pattern, Intraalveolar phospholipid accumulation |
ORPHA:747 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Cholelithiasis, Abnormal pulmonary interstitial morphology |
ORPHA:77293 |
Cryptococcosis |
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Pleural effusion, Prostatitis, Pneumonia, Nodular pattern on pulmonary HRCT |
ORPHA:1546 |
Farber Disease |
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Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT |
ORPHA:333 |
Ehlers-Danlos Syndrome, Vascular Type |
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Pulmonary bulla, Nodular pattern on pulmonary HRCT, Hemothorax, Recurrent intrapulmonary hemorrha... |
OMIM:130050 |
X-Linked Lymphoproliferative Disease |
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Pulmonary granulomatosis, Recurrent respiratory infections |
ORPHA:2442 |
Goodpasture Syndrome |
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Nodular pattern on pulmonary HRCT, Pulmonary hemorrhage, Hemosiderin-laden macrophages in broncho... |
OMIM:233450 |