Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 51 |
|
Microcephalic sperm head, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm mot... |
OMIM:619177 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Decreased testicular size, Male infertility |
OMIM:619689 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Partial Chromosome Y Deletion |
|
Oligospermia, Non-obstructive azoospermia, Male infertility, Abnormal spermatogenesis, Decreased ... |
ORPHA:1646 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
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 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Cholesterol-Ester Transfer Protein Deficiency |
|
Hyperlipidemia, Hyperlipoproteinemia, Increased HDL cholesterol concentration, Hypotriglyceridemi... |
ORPHA:79506 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Hypertriglyceridemia 2 |
|
Hypertriglyceridemia, Decreased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:619324 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
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 |
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 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Microcephalic sperm head, Reduced sperm motility, Short sperm flagella, Ta... |
OMIM:617959 |
Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Xanthomatosis, Susceptibility To |
|
Hypercholesterolemia |
OMIM:602247 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Testicular atrophy, Decreased serum testosterone concentration, Azoospermia, Delayed menarche, Hy... |
ORPHA:52901 |
Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 25 |
|
Azoospermia, Cryptozoospermia, Decreased testicular size |
OMIM:617960 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 38 |
|
Coiled sperm flagella, Reduced sperm motility, Abnormal axonemal organization of respiratory moti... |
OMIM:618433 |
Spermatogenic Failure 8 |
|
Azoospermia, Oligospermia, Cryptozoospermia |
OMIM:613957 |
Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
Thyroid Hormone Metabolism, Abnormal, 2 |
|
Hypercholesterolemia |
OMIM:619855 |
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 |
Coronary Artery Disease, Autosomal Dominant, 1 |
|
Hypercholesterolemia |
OMIM:608320 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Sitosterolemia 2 |
|
Elevated circulating sitosterol concentration, Hypercholesterolemia |
OMIM:618666 |
Glycogen Storage Disease Vi |
|
Hypertriglyceridemia, Hyperlipidemia, Failure to thrive in infancy, Hypercholesterolemia |
OMIM:232700 |
Spermatogenic Failure 30 |
|
Azoospermia, Cryptozoospermia |
OMIM:618110 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
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 |
Isochromosomy Yp |
|
Ambiguous genitalia, Male infertility, Decreased testicular size, Primary gonadal insufficiency, ... |
ORPHA:98797 |
Spastic Paraplegia-Precocious Puberty Syndrome |
|
Hyperplasia of the Leydig cells, Precocious puberty in males |
ORPHA:2826 |
Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly |
|
Azoospermia, Microcephaly, Male hypogonadism |
OMIM:241000 |
Spermatogenic Failure 71 |
|
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Abnormal sperm tail morphology, Non-obstructive azoospermia, Globozoospermia, Decreased testicula... |
ORPHA:399808 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Hyperlipoproteinemia, Type Ii, And Deafness |
|
Hypertriglyceridemia, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144300 |
Isochromosomy Yq |
|
Ambiguous genitalia, Varicocele, Male infertility, Decreased testicular size, Primary gonadal ins... |
ORPHA:98798 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
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 |
Hypercholesterolemia, Familial, 4 |
|
Hypertriglyceridemia, Increased VLDL cholesterol concentration, Hypercholesterolemia |
OMIM:603813 |
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 2 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:108420 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility, Abnormal male germ cell morphology |
OMIM:615413 |
Ring Chromosome Y Syndrome |
|
Urogenital sinus anomaly, Female infertility, Ambiguous genitalia, female, Ambiguous genitalia, m... |
ORPHA:261529 |
Familial Male-Limited Precocious Puberty |
|
Precocious puberty, Oligospermia, Long penis, Male infertility, Macroorchidism |
ORPHA:3000 |
Premature Ovarian Failure 5 |
|
Hypoplasia of the ovary, Streak ovary, Reduced antral follicle count, Primary amenorrhea, Seconda... |
OMIM:611548 |
Intellectual Developmental Disorder, X-Linked 14 |
|
Macroorchidism |
OMIM:300062 |
Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:85320 |
Coronary Artery Disease, Autosomal Dominant 2 |
|
Hypertriglyceridemia, Hyperlipidemia, Hypercholesterolemia |
OMIM:610947 |
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Decreased testicular size, Abnormal spermatogenesis, Azoospermia, In... |
ORPHA:399805 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Failure to thrive, Hyperlipidemia, Hypoalbuminemia, Hypercholesterolemia |
OMIM:615863 |
Premature Ovarian Failure 10 |
|
Hypoplasia of the ovary, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypo... |
OMIM:612885 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Reduced subcutaneous adipose tissue, Hypocalcemia, Splenomegaly, Hepatosplenomegaly, Generalized ... |
OMIM:612526 |
Hyperlipidemia, Familial Combined, 3 |
|
Elevated circulating apolipoprotein B concentration, Hyperlipidemia, Increased LDL cholesterol co... |
OMIM:144250 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Spermatogenic Failure, X-Linked, 2 |
|
Azoospermia, Testicular atrophy, Male infertility |
OMIM:309120 |
Ovarian Dysgenesis 2 |
|
Hypoplasia of the uterus, Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Secon... |
OMIM:300510 |
Morbid Obesity And Spermatogenic Failure |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
OMIM:615703 |
Young Syndrome |
|
Obstructive azoospermia, Decreased fertility |
ORPHA:3471 |
Hypothyroidism, Congenital, Nongoitrous, 8 |
|
Hypercholesterolemia |
OMIM:301033 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Failure to thrive, Hyperbilirubinemia, Decreased HDL cholesterol concentration, Hypermethioninemi... |
OMIM:605814 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Decreased circulating ceruloplasmin concentration, Increased LDL cholesterol concentration, Hyper... |
OMIM:616829 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Elevated circulating transferrin concentration, Lipodyst... |
OMIM:616000 |
Spermatogenic Failure 6 |
|
Globozoospermia, Male infertility, Decreased acrosin in sperm head |
OMIM:102530 |
Intellectual Developmental Disorder, X-Linked 2 |
|
Macroorchidism |
OMIM:300428 |
Perrault Syndrome 6 |
|
Hypoplasia of the uterus, Streak ovary, Irregular menstruation, Primary amenorrhea, Secondary ame... |
OMIM:617565 |
Thrombocytopenia 2 |
|
Thrombocytopenia, Leukocytosis |
OMIM:188000 |
Thrombocytopenic Purpura, Autoimmune |
|
Thrombocytopenia |
OMIM:188030 |
Hypogonadism, Male |
|
Hypospadias, Testicular atrophy, Male hypogonadism, Micropenis |
OMIM:241100 |
Leydig Cell Hypoplasia |
|
Abnormal external genitalia, Hypergonadotropic hypogonadism, Primary amenorrhea, Hyoplasia of the... |
ORPHA:755 |
Ovarian Dysgenesis 10 |
|
Hypoplasia of the ovary, Streak ovary, Elevated circulating luteinizing hormone level, Primary am... |
OMIM:619834 |
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia |
|
Decreased serum testosterone concentration, Azoospermia, Testicular microlithiasis, Micropenis, O... |
OMIM:228300 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Failure to thrive, Splenomegaly, Increased total bilirubin, Conjugated hyperbilirubinemia, Hypoal... |
OMIM:619868 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Spinocerebellar Ataxia 32 |
|
Infertility, Testicular atrophy, Azoospermia |
OMIM:613909 |
Mental retardation, x-linked, syndromic, Turner type |
|
Macroorchidism |
OMIM:300706 |
Premature Ovarian Failure 6 |
|
Hypoplasia of the uterus, Female infertility, Streak ovary, Elevated circulating luteinizing horm... |
OMIM:612310 |
Spinocerebellar Ataxia Type 32 |
|
Azoospermia, Testicular atrophy, Male infertility |
ORPHA:276183 |
Thrombocytopenia, Cyclic |
|
Cyclic neutropenia, Thrombocytopenia, Neutropenia |
OMIM:188020 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Bleeding Disorder, Platelet-Type, 9 |
|
Thrombocytopenia |
OMIM:614200 |
Premature Ovarian Failure 18 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619203 |
Ovarian Dysgenesis 9 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Elevated circulating luteinizing hormone level... |
OMIM:619665 |
Thrombocytopenia 7 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619130 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Hydrocephalus, Macroorchidism |
OMIM:300886 |
Congenital Bilateral Absence Of Vas Deferens |
|
Oligospermia, Obstructive azoospermia, Absent vas deferens, Male infertility |
ORPHA:48 |
Hepatic Lipase Deficiency |
|
Hypertriglyceridemia, Increased HDL cholesterol concentration, Hypercholesterolemia |
OMIM:614025 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypoplasia of the uterus, Decreased serum testosterone concentration, Hypoplasia of the ovary, Mi... |
OMIM:614841 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:607250 |
Spermatogenic Failure 29 |
|
Azoospermia |
OMIM:618091 |
Spermatogenic Failure 13 |
|
Azoospermia |
OMIM:615841 |
Spermatogenic Failure 14 |
|
Azoospermia |
OMIM:615842 |
Deleted in azoospermia |
|
Azoospermia |
OMIM:400003 |
Premature Ovarian Failure 8 |
|
Ovarian neoplasm, Streak ovary, Elevated circulating luteinizing hormone level, Primary amenorrhe... |
OMIM:615723 |
Roch-Leri Mesosomatous Lipomatosis |
|
Thrombocytopenia, Multiple lipomas |
ORPHA:529 |
Amegakaryocytic Thrombocytopenia, Congenital |
|
Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia |
OMIM:604498 |
Familial Apolipoprotein Gene Cluster Deletion Syndrome |
|
Decreased circulating apolipoprotein AI concentration, Hypocholesterolemia, Decreased HDL cholest... |
OMIM:620058 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal vagina morphology, Infertility, Hypoplasia of the uterus, Decreased serum testosterone c... |
ORPHA:168563 |
Prolactin Deficiency With Obesity And Enlarged Testes |
|
Reduced circulating prolactin concentration, Macroorchidism |
OMIM:264120 |
Niemann-Pick Disease, Type B |
|
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Splenomegaly, Decreased HDL chol... |
OMIM:607616 |
Bone Marrow Failure Syndrome 5 |
|
Microcephaly, Testicular atrophy, Hypogonadism |
OMIM:618165 |
Perrault Syndrome 2 |
|
Amenorrhea, Streak ovary |
OMIM:614926 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Infertility, Cerebral cortical atrophy, Cerebral atrophy, Reduced sperm motility, Corpus callosum... |
ORPHA:320391 |
Glycogen Storage Disease Ixa1 |
|
Hypertriglyceridemia, Splenomegaly, Hyperuricemia, Hypercholesterolemia |
OMIM:306000 |
Hypergonadotropic Hypogonadism And Partial Alopecia |
|
Hypergonadotropic hypogonadism, Streak ovary |
OMIM:241090 |
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome |
|
Abnormal hemoglobin, Splenomegaly, Abnormal platelet function, Anemia, Thrombocytopenia |
ORPHA:231393 |
Sitosterolemia 1 |
|
Episodic hemolytic anemia, Stomatocytosis, Splenomegaly, Anemia, Impaired platelet aggregation, C... |
OMIM:210250 |
Normosmic Congenital Hypogonadotropic Hypogonadism |
|
Increased female libido, Hypoplasia of the uterus, Impotence, Decreased serum testosterone concen... |
ORPHA:432 |
Adrenal Hypoplasia, Congenital |
|
Adrenal insufficiency, Failure to thrive, Decreased circulating aldosterone level, Precocious pub... |
OMIM:300200 |
Partington Syndrome |
|
Macroorchidism |
ORPHA:94083 |
Hypogonadotropic Hypogonadism 25 With Anosmia |
|
Hypoplasia of the ovary, Decreased serum testosterone concentration, Micropenis, Primary amenorrh... |
OMIM:618841 |
Hypercholesterolemia, Familial, 3 |
|
Xanthelasma, Abnormal LDL cholesterol concentration, Hypercholesterolemia |
OMIM:603776 |
Functioning Gonadotropic Adenoma |
|
Impotence, Ovarian cyst, Central diabetes insipidus, Enlarged polycystic ovaries, Pituitary gonad... |
ORPHA:91348 |
Temple Syndrome |
|
Flexion contracture, Small for gestational age, Truncal obesity, Hypertriglyceridemia, Hyperchole... |
OMIM:616222 |
Osteosclerosis With Ichthyosis And Premature Ovarian Failure |
|
Hypoplasia of the ovary, Premature ovarian insufficiency |
OMIM:609993 |
46,Xx Gonadal Dysgenesis |
|
Streak ovary, Microcephaly, Primary amenorrhea, Gonadal dysgenesis, Aplasia/hypoplasia of the ute... |
ORPHA:243 |
Distal Myopathy, Tateyama Type |
|
Abnormal circulating creatine kinase concentration, Hypercholesterolemia |
ORPHA:488650 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circul... |
OMIM:229070 |
Spermatogenic Failure 75 |
|
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... |
OMIM:619949 |
Growth Hormone Insensitivity Syndrome |
|
Failure to thrive, Truncal obesity, Hypercholesterolemia |
ORPHA:181393 |
Mccune-Albright Syndrome |
|
Increased serum testosterone level, Precocious puberty, Abnormal endocrine physiology, Abnormalit... |
ORPHA:562 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Failure to thrive, Splenomegaly, Extramedullary hematopoiesis, Leukopenia, Neutropenia, Anemia, T... |
OMIM:615285 |
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome |
|
Amegakaryocytic thrombocytopenia |
ORPHA:71289 |
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia |
|
Hypoplasia of the uterus, Micropenis, Hypogonadotropic hypogonadism, Primary amenorrhea, Gonadotr... |
OMIM:614837 |
Cholesteryl Ester Storage Disease |
|
Hypertriglyceridemia, Splenomegaly, Hypercholesterolemia |
ORPHA:75234 |
Kennedy Disease |
|
Erectile dysfunction, Testicular atrophy, Type II diabetes mellitus, Decreased fertility |
ORPHA:481 |
47,Xyy Syndrome |
|
Increased serum testosterone level, Hydrocephalus, Cryptorchidism, Micropenis, Hypospadias, Oligo... |
ORPHA:8 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Increased LDL cholesterol concentration, Splenomegaly, Hepatosplenomegaly, Elevated circulating c... |
OMIM:616828 |
Hypercholesterolemia, Familial, 2 |
|
Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:144010 |
Spermatogenic Failure 15 |
|
Abnormal circulating luteinizing hormone concentration, Abnormal circulating follicle-stimulating... |
OMIM:616950 |
Intellectual Developmental Disorder, X-Linked, Syndromic 11 |
|
Macroorchidism |
OMIM:300238 |
Beemer Lethal Malformation Syndrome |
|
Thrombocytopenia |
OMIM:209970 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Spermatocele, Obstructive azoospermia, Male infertility |
OMIM:301060 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Splenomegaly, Hypocholesterolemia, Anemia, Thrombocytopenia, Hypersplenism |
OMIM:610539 |
Lissencephaly 4 |
|
Colpocephaly, Agenesis of corpus callosum |
OMIM:614019 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hypertriglyceridemi... |
OMIM:603552 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypoalbuminemia, Hypercholesterolemia |
ORPHA:94124 |
Bleeding Disorder, Platelet-Type, 16 |
|
Impaired platelet aggregation, Macrothrombocytopenia, Giant platelets, Platelet anisocytosis, Ane... |
OMIM:187800 |
Perrault Syndrome 4 |
|
Hypoplasia of the uterus, Hypoplasia of the ovary, Bicornuate uterus, Oligomenorrhea, Primary ame... |
OMIM:615300 |
46,Xy Partial Gonadal Dysgenesis |
|
Streak ovary, Hypergonadotropic hypogonadism, Primary amenorrhea, Ambiguous genitalia, Clitoral h... |
ORPHA:251510 |
Megalencephaly |
|
Macroorchidism, Long penis |
ORPHA:2477 |
Apolipoprotein C-Ii Deficiency |
|
Splenomegaly, Decreased circulating apolipoprotein C-II concentration, Hypertriglyceridemia, Incr... |
OMIM:207750 |
17Q11.2 Microduplication Syndrome |
|
Macroorchidism |
ORPHA:139474 |
Testicular Regression Syndrome |
|
Abnormal male internal genitalia morphology, Absent testis, Hypoplasia of penis, Male pseudoherma... |
ORPHA:983 |
Congenital Analbuminemia |
|
Hyperlipidemia, Hypoproteinemia, Small for gestational age, Increased alpha-globulin, Lipodystrop... |
ORPHA:86816 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Thrombocytopenia |
OMIM:166990 |
Obesity Due To Congenital Leptin Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:66628 |
Acute Myelomonocytic Leukemia |
|
Leukocytosis, Eosinophilia, Weight loss, Anemia, Thrombocytopenia |
ORPHA:517 |
Malaria |
|
Anemia, Thrombocytopenia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia |
ORPHA:673 |
Satoyoshi Syndrome |
|
Amenorrhea, Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Mi... |
ORPHA:3130 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Increased circulating ferritin concentration, Hemophagocytosis, Splenomegaly, Hepatosplenomegaly,... |
OMIM:613101 |
Bleeding Disorder, Platelet-Type, 24 |
|
Impaired collagen-induced platelet aggregation, Impaired ristocetin-induced platelet aggregation,... |
OMIM:619271 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Hyperinsulinemia, Decreased serum testosterone concentration, Hypoplasia of the ovary, Hypergonad... |
ORPHA:179494 |
Eosinophilia, Familial |
|
Anemia, Eosinophilia, Thrombocytopenia, Leukocytosis |
OMIM:131400 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
ORPHA:1193 |
Spermatogenic Failure 28 |
|
Azoospermia, Elevated circulating luteinizing hormone level, Elevated circulating follicle stimul... |
OMIM:618086 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Erythroleukemia, Familial, Susceptibility To |
|
Splenomegaly, Anemia, Thrombocytopenia, Leukemia, Acute myeloid leukemia, Erythroid hyperplasia |
OMIM:133180 |
Congenital Amegakaryocytic Thrombocytopenia |
|
Anemia, Abnormal hemoglobin, Thrombocytopenia |
ORPHA:3319 |
Mandibuloacral Dysplasia |
|
Increased adipose tissue around the neck, Lipoatrophy, Increased circulating free fatty acid leve... |
ORPHA:2457 |
Non-Functioning Pituitary Adenoma |
|
Impotence, Decreased fertility in males, Central adrenal insufficiency, Erectile dysfunction, Hyp... |
ORPHA:91349 |
X-Linked Intellectual Disability, Shashi Type |
|
Macroorchidism |
ORPHA:85286 |
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome |
|
Abnormal vagina morphology, Streak ovary, Hypospadias, Abnormality of the uterus, Gonadoblastoma,... |
OMIM:194072 |
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:168558 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Decreased circulating androgen concentration, Decreased circulating cortisol level, Abnormality o... |
ORPHA:289548 |
Young Syndrome |
|
Azoospermia |
OMIM:279000 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Frasier Syndrome |
|
Ambiguous genitalia, male, Gonadal dysgenesis with female appearance, male, Streak ovary, Hypergo... |
ORPHA:347 |
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia |
|
Hypoplasia of the olfactory bulb, Decreased serum testosterone concentration, Micropenis, Decreas... |
OMIM:614897 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Increased LDL cholesterol concentration, Steatorrhea, Splenomegaly, Hepatosple... |
OMIM:278000 |
Lipodystrophy, Familial Partial, Type 2 |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Loss of truncal su... |
OMIM:151660 |
Ciliary Dyskinesia, Primary, 34 |
|
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... |
OMIM:617091 |
Alg13-Cdg |
|
Abnormal lateral ventricle morphology |
ORPHA:324422 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypoplasia of the ovary, Reduced circulating prolactin concentration, Hypogonadotropic hypogonadi... |
ORPHA:2235 |
Platelet Signal Processing Defect |
|
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Impair... |
OMIM:173590 |
Polyrrhinia |
|
Lateral ventricle dilatation, Abnormal third ventricle morphology |
ORPHA:141091 |
Intellectual Developmental Disorder, X-Linked 21 |
|
Macroorchidism |
OMIM:300143 |
46,Xy Sex Reversal 7 |
|
Sex reversal, Gonadal dysgenesis, male, Hypoplasia of the uterus, Streak ovary, Primary amenorrhe... |
OMIM:233420 |
Cog4-Cdg |
|
Hepatosplenomegaly, Thrombocytopenia, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:263501 |
Preeclampsia/Eclampsia 1 |
|
Thrombocytopenia |
OMIM:189800 |
Bleeding Disorder, Platelet-Type, 15 |
|
Increased mean platelet volume, Thrombocytopenia, Platelet anisocytosis |
OMIM:615193 |
X-Linked Intellectual Disability, Wilson Type |
|
Hydrocele testis, Lateral ventricle dilatation |
ORPHA:85290 |
Abdominal Obesity-Metabolic Syndrome 3 |
|
Abdominal obesity, Truncal obesity, Hypercholesterolemia |
OMIM:615812 |
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation |
|
Obesity, Hypercholesterolemia |
ORPHA:254531 |
Thrombocytopenia 4 |
|
Thrombocytopenia, Abnormal platelet volume |
OMIM:612004 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
ORPHA:250972 |
Forsythe-Wakeling Syndrome |
|
Decreased body weight, Thrombocytopenia |
OMIM:613606 |
Peroxisome Biogenesis Disorder 6A (Zellweger) |
|
Colpocephaly |
OMIM:614870 |
Fragile X Syndrome |
|
Macroorchidism, postpubertal, Congenital macroorchidism |
OMIM:300624 |
Hemangioma-Thrombocytopenia Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia |
OMIM:141000 |
Anemia, Sideroblastic, 5 |
|
Hypochromic microcytic anemia, Neutropenia, Reduced hematocrit, Anemia, Thrombocytopenia |
OMIM:619523 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Infertility, Impotence, Decreased serum testosterone concentration, Cryptorchidism, Small pituita... |
ORPHA:2232 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Hypergonadotropic hypogonadism, Azoospermia, Leukoencephalopathy |
OMIM:613724 |
Androgen Insensitivity, Partial |
|
Infertility, Micropenis, Bifid scrotum, Male pseudohermaphroditism, Absent vas deferens, Hypogona... |
OMIM:312300 |
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome |
|
Elevated circulating growth hormone concentration, Decreased serum insulin-like growth factor 1, ... |
ORPHA:85327 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Hyperlipoproteinemia, Type I |
|
Hyperlipidemia, Splenomegaly, Hepatosplenomegaly, Lactescent serum, Increased circulating chylomi... |
OMIM:238600 |
Platelet Glycoprotein Iv Deficiency |
|
Thrombocytopenia, Giant platelets |
OMIM:608404 |
Polyembryoma |
|
Increased serum serotonin, Abnormality of the endocrine system, Increased serum testosterone leve... |
ORPHA:180229 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Abnormal reticulocyte morphology, Anisocytosis, Macrocytic anemia, Poikilocytosis, Increased hemo... |
OMIM:300835 |
Chylomicron Retention Disease |
|
Failure to thrive, Steatorrhea, Decreased LDL cholesterol concentration, Hypocholesterolemia, Hyp... |
OMIM:246700 |
Galactokinase Deficiency |
|
Failure to thrive, Small for gestational age, Hepatosplenomegaly, Increased level of galactitol i... |
ORPHA:79237 |
Cernunnos-Xlf Deficiency |
|
Lymphopenia, B lymphocytopenia, T lymphocytopenia, Anemia, Thrombocytopenia |
ORPHA:169079 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia |
ORPHA:1980 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Decreased fertility |
OMIM:313200 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent outer dynein arms, Immotile sperm |
OMIM:614874 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Increased mean corpuscular volume, Neutropenia, Pancytopenia, Anemia, Thrombocytopenia, Acute mye... |
OMIM:619041 |
Pseudo-Von Willebrand Disease |
|
Intermittent thrombocytopenia |
OMIM:177820 |
Acquired Idiopathic Sideroblastic Anemia |
|
Anemia of inadequate production, Granulocytopenia, Neutropenia, Leukocytosis, Splenomegaly, Hypoc... |
ORPHA:75564 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Testicular atrophy, Decreased serum testosterone concentration, Leydig cell insensitivity to gona... |
OMIM:308700 |
Congenital Hydrocephalus |
|
Hydrocephalus, Colpocephaly, Ventriculomegaly |
ORPHA:2185 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1 |
|
Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia |
OMIM:252270 |
Spondylometaphyseal Dysplasia, Axial |
|
Reduced sperm motility |
OMIM:602271 |
Congenital Generalized Lipodystrophy |
|
Failure to thrive, Increased C-peptide level, Hypertriglyceridemia, Lipodystrophy, Adipose tissue... |
ORPHA:528 |
Folate Malabsorption, Hereditary |
|
Failure to thrive, Leukopenia, Neutropenia, Thrombocytopenia, Folate-responsive megaloblastic anemia |
OMIM:229050 |
Refractory Anemia |
|
Anemia of inadequate production, Normocytic anemia, Erythroid hypoplasia, Macrocytic anemia, Neut... |
ORPHA:98826 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Macroorchidism |
ORPHA:3077 |
Laron Syndrome |
|
Truncal obesity, Hypercholesterolemia |
ORPHA:633 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Impaired epinephrine-induced platelet aggregation, Neutrophil inclusion bodies, Leukocyte inclusi... |
OMIM:155100 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Failure to thrive, Elevated circulating creatine kinase concentration, Amelogenesis imperfecta, T... |
OMIM:614727 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Oligospermia |
OMIM:314300 |
Bone Marrow Failure Syndrome 2 |
|
Anemia, Leukopenia, Thrombocytopenia |
OMIM:615715 |
Fanconi Anemia, Complementation Group G |
|
Anemia, Thrombocytopenia, Leukemia, Neutropenia |
OMIM:614082 |
Clark-Baraitser syndrome |
|
Macroorchidism |
OMIM:300602 |
Dk Phocomelia Syndrome |
|
Thrombocytopenia |
OMIM:223340 |
Ciliary Dyskinesia, Primary, 12 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Immotile sperm, Reduce... |
OMIM:612650 |
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158057 |
Partial Androgen Insensitivity Syndrome |
|
Abnormal circulating estrogen level, Blind vagina, Primary amenorrhea, Ambiguous genitalia, Clito... |
ORPHA:90797 |
Spermatogenic Failure, X-Linked, 4 |
|
Decreased serum testosterone concentration, Abnormal prolactin level, Elevated circulating lutein... |
OMIM:301077 |
Rapidly Involuting Congenital Hemangioma |
|
Thrombocytopenia, Lipoatrophy |
ORPHA:141184 |
Fragile X Syndrome |
|
Macroorchidism |
ORPHA:908 |
Gray Platelet Syndrome |
|
Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly |
ORPHA:721 |
Alpha-Thalassemia-Myelodysplastic Syndrome |
|
Splenomegaly, Microcytic anemia, Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia |
ORPHA:231401 |
Atkin-Flaitz Syndrome |
|
Macroorchidism |
OMIM:300431 |
Ciliary Dyskinesia, Primary, 14 |
|
Immotile sperm, Reduced sperm motility, Absent inner dynein arms, Abnormal axonemal organization ... |
OMIM:613807 |
Giant platelet syndrome with thrombocytopenia |
|
Thrombocytopenia, Giant platelets |
OMIM:137560 |
Ciliary Dyskinesia, Primary, 26 |
|
Infertility, Absent outer dynein arms, Reduced sperm motility |
OMIM:615500 |
Lujan-Fryns Syndrome |
|
Macroorchidism |
ORPHA:776 |
Central Neurocytoma |
|
Abnormal lateral ventricle morphology, Hydrocephalus |
ORPHA:73256 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Small cerebral cortex, Microcephaly, Cortical dysplasia, Cerebellar hypoplasia, Hypoplasia of the... |
OMIM:608716 |
Morgagni-Stewart-Morel Syndrome |
|
Obesity, Hyperuricemia, Hypercholesterolemia |
ORPHA:77296 |
Sea-Blue Histiocyte Disease |
|
Sea-blue histiocytosis, Thrombocytopenia, Splenomegaly |
OMIM:269600 |
Polycythemia Vera |
|
Increased hematocrit, Leukocytosis, Splenomegaly, Increased red blood cell mass, Thrombocytosis, ... |
OMIM:263300 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Azoospermia, Male infertility, Absent vas deferens |
OMIM:277180 |
Autoinflammation With Infantile Enterocolitis |
|
Increased circulating ferritin concentration, Failure to thrive, Elevated circulating C-reactive ... |
OMIM:616050 |
Ataxia-Pancytopenia Syndrome |
|
Hypoplastic anemia, Acute myelomonocytic leukemia, Pancytopenia, Neutropenia, Anemia, Thrombocyto... |
OMIM:159550 |
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome |
|
Abnormal lateral ventricle morphology |
ORPHA:488635 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hypertriglyceridemia, Obesity, Increased LDL cholesterol concentration, Hypercholesterolemia |
ORPHA:209902 |
Fetal Parvovirus Syndrome |
|
Anemia, Thrombocytopenia |
ORPHA:295 |
Lead Poisoning |
|
Infertility, Decreased male libido, Reduced sperm motility, Small for gestational age, Oligosperm... |
ORPHA:330015 |
Xp22.13P22.2 Duplication Syndrome |
|
Polycystic ovaries, Macroorchidism |
ORPHA:284180 |
Smith-Magenis Syndrome |
|
Hypertriglyceridemia, Increased body weight, Hypercholesterolemia |
OMIM:182290 |
Ciliary Dyskinesia, Primary, 11 |
|
Abnormal central microtubular pair morphology of respiratory motile cilia, Reduced sperm motility |
OMIM:612649 |
Fanconi Anemia, Complementation Group T |
|
Anemia, Thrombocytopenia, Pancytopenia |
OMIM:616435 |
Slc35A1-Cdg |
|
Cellulitis, Giant platelets, Neutropenia, Thrombocytopenia, Abnormal platelet granules |
ORPHA:238459 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Thrombocytopenia |
OMIM:614493 |
Atypical Hemolytic Uremic Syndrome |
|
Microangiopathic hemolytic anemia, Thrombocytopenia |
ORPHA:2134 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Hypermethioninemia, Abnormal circulating arginine concentration, Abnormal circulating glutamine c... |
ORPHA:247598 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Hypoalbuminemia, Hypercholesterolemia |
OMIM:208920 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Obesity, Small for gestational age, Truncal obesity, Hypercholesterolemia |
ORPHA:96184 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Male hypogonadism, Macroorchidism |
OMIM:300055 |
Proteasome-Associated Autoinflammatory Syndrome 3 |
|
Failure to thrive, Lymphopenia, Flexion contracture, Splenomegaly, Hypertriglyceridemia, Lipodyst... |
OMIM:617591 |
Aicardi-Goutieres Syndrome 3 |
|
Hepatosplenomegaly, Thrombocytopenia |
OMIM:610329 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Increased LDL c... |
OMIM:267700 |
Kallmann Syndrome With Spastic Paraplegia |
|
Testicular atrophy, Leydig cell insensitivity to gonadotropin, Eunuchoid habitus, Micropenis, Hyp... |
OMIM:308750 |
Pontocerebellar Hypoplasia, Type 15 |
|
Anemia, Chronic neutropenia, Thrombocytopenia |
OMIM:619302 |
Proteasome-Associated Autoinflammatory Syndrome 2 |
|
Failure to thrive, Elevated circulating C-reactive protein concentration, B lymphocytopenia, Lipo... |
OMIM:618048 |
Bardet-Biedl Syndrome |
|
Hypoplasia of the ovary, Hypoplasia of penis, Hypogonadism, Obesity, Cryptorchidism |
ORPHA:110 |
Wt Limb-Blood Syndrome |
|
Hypoplastic anemia, Joint contracture of the 5th finger, Pancytopenia, Thrombocytopenia, Leukemia |
OMIM:194350 |
Immunodeficiency 46 |
|
Failure to thrive, Anemia, Intermittent thrombocytopenia, Neutropenia |
OMIM:616740 |
Fanconi Anemia, Complementation Group V |
|
Elevated alpha-fetoprotein, Anemia, Thrombocytopenia, Neutropenia |
OMIM:617243 |
Bleeding Disorder, Platelet-Type, 20 |
|
Thrombocytopenia |
OMIM:616913 |
Von Willebrand Disease, Type 2 |
|
Thrombocytopenia |
OMIM:613554 |
Autosomal Recessive Spastic Paraplegia Type 66 |
|
Colpocephaly |
ORPHA:401815 |
Transcobalamin Deficiency |
|
Pancytopenia, Thrombocytopenia, Lymphopenia, Neutropenia |
ORPHA:859 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentra... |
ORPHA:567548 |
Citrullinemia Type Ii |
|
Acute hyperammonemia, Hyperlipidemia, Hypoproteinemia, Decreased HDL cholesterol concentration, D... |
ORPHA:247585 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Immotile sperm, Absent respiratory ciliary axoneme radial spokes |
OMIM:242670 |
Generalized Glucocorticoid Resistance Syndrome |
|
Infertility, Decreased circulating aldosterone level, Precocious puberty, Increased circulating c... |
ORPHA:786 |
Leishmaniasis |
|
Splenomegaly, Leukopenia, Abnormal macrophage morphology, Weight loss, Hypoalbuminemia, Pancytope... |
ORPHA:507 |
9Q31.1Q31.3 Microdeletion Syndrome |
|
Overweight, Hypercholesterolemia |
ORPHA:401923 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Thrombocytopenia, Macrothrombocytopenia, Giant ... |
OMIM:231200 |
Pontocerebellar Hypoplasia, Type 14 |
|
Chronic neutropenia, Thrombocytopenia |
OMIM:619301 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Thrombocytopenia |
OMIM:615008 |
Thrombotic Thrombocytopenic Purpura |
|
Microangiopathic hemolytic anemia, Reticulocytosis, Thrombocytopenia, Decreased serum creatinine |
ORPHA:54057 |
Transaldolase Deficiency |
|
Hepatosplenomegaly, Abnormal circulating glutamine concentration, Anemia, Thrombocytopenia, Incre... |
ORPHA:101028 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Omenn Syndrome |
|
Failure to thrive, Hypoproteinemia, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe ... |
OMIM:603554 |
Hemochromatosis, Type 1 |
|
Amenorrhea, Testicular atrophy, Impotence, Hypogonadotropic hypogonadism, Diabetes mellitus, Azoo... |
OMIM:235200 |
Dysbetalipoproteinemia |
|
Increased LDL cholesterol concentration, Decreased HDL cholesterol concentration, Hypertriglyceri... |
ORPHA:412 |
Unilateral Hemispheric Polymicrogyria |
|
Lateral ventricle dilatation |
ORPHA:101071 |
Ciliary Dyskinesia, Primary, 15 |
|
Infertility, Abnormal axonemal organization of respiratory motile cilia, Immotile sperm |
OMIM:613808 |
Myotonic Dystrophy 2 |
|
Type II diabetes mellitus, Oligospermia, Hypogonadism, Elevated circulating follicle stimulating ... |
OMIM:602668 |
Nephrotic Syndrome, Type 11 |
|
Hypoalbuminemia, Hypercholesterolemia |
OMIM:616730 |
Chronic Myeloid Leukemia |
|
Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal granulocyte morphology, Thrombo... |
ORPHA:521 |
Ataxia With Vitamin E Deficiency |
|
Hypertriglyceridemia, Xanthelasma, Increased LDL cholesterol concentration, Hypercholesterolemia |
OMIM:277460 |
Moyamoya Disease With Early-Onset Achalasia |
|
Abnormal platelet aggregation, Thrombocytopenia |
ORPHA:401945 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Reduced subcutaneous adipose tissue, Increased adipose tissue around the neck, Hyperlipidemia, Fl... |
OMIM:248370 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum, Macroorchidism |
OMIM:309520 |
Osteopetrosis, Autosomal Recessive 8 |
|
Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:615085 |
3-Methylglutaconic Aciduria Type 4 |
|
Failure to thrive, Thrombocytopenia |
ORPHA:67048 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Hyperactive renin-angiotensin system, Decreased circulating cortisol level, Male pseudohermaphrod... |
ORPHA:90790 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Failure to thrive, Inguinal hernia, Elevated circulating propionylcarnitine concentration, Hypome... |
OMIM:614857 |
Preeclampsia |
|
Small for gestational age, Elevated circulating creatinine concentration, Thrombocytopenia |
ORPHA:275555 |
Lymphoproliferative Syndrome 1 |
|
Increased circulating ferritin concentration, Elevated circulating C-reactive protein concentrati... |
OMIM:613011 |
Immunodeficiency 97 With Autoinflammation |
|
Increased circulating ferritin concentration, Neutropenia in presence of anti-neutropil antibodie... |
OMIM:619802 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated alpha-fetoprotein, Elevated circulating creatine kinase concentration, Hypoalbuminemia, ... |
ORPHA:64753 |
Isolated Agammaglobulinemia |
|
Failure to thrive, Cellulitis, Abnormal lymphocyte morphology, Abnormality of neutrophils, Anemia... |
ORPHA:229717 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Ambiguous genitalia, female, Streak ovary, Ambiguous genitalia, Abnormal internal genitalia, Bila... |
ORPHA:1772 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Failure to thrive, Splenomegaly, Hyperammonemia, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:79312 |
Thrombocytopenia 5 |
|
Anemia, Thrombocytopenia, Neutropenia |
OMIM:616216 |
Diffuse Neonatal Hemangiomatosis |
|
Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:2123 |
Macrophage Activation Syndrome |
|
Increased circulating ferritin concentration, Neutropenia, Elevated circulating C-reactive protei... |
ORPHA:158061 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Hemophagocytos... |
OMIM:308240 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anemia of inadequate production, Hypochromic anemia, Anisocytosis, Poikilocytosis, Macrothrombocy... |
ORPHA:67044 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Failure to thrive, Macrocephaly, Small for gestational age, Microcephaly, Oligospermia, Clitoral ... |
OMIM:614813 |
Aromatase Deficiency |
|
Female infertility, Ambiguous genitalia, female, Type II diabetes mellitus, Hypergonadotropic hyp... |
ORPHA:91 |
+173470 integrin, beta-3 |
|
Post-transfusion thrombocytopenia, Decreased platelet glycoprotein IIb-IIIa, Neonatal alloimmune ... |
OMIM:173470 |
Ciliary Dyskinesia, Primary, 22 |
|
Infertility, Absent inner and outer dynein arms, Reduced sperm motility |
OMIM:615444 |
Gaucher Disease, Type Iii |
|
Decreased body weight, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:231000 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Urogenital sinus anomaly, Chordee, Gray matter heterotopia, Dysplastic corpus callosum, Macroceph... |
OMIM:618820 |
Rhabdoid Tumor |
|
Weight loss, Anemia, Thrombocytopenia, Hypercalcemia |
ORPHA:69077 |
Beta-Thalassemia |
|
Abnormal hemoglobin, Splenomegaly, Abnormality of iron homeostasis, Microcytic anemia, Anemia, Th... |
ORPHA:848 |
Systemic Lupus Erythematosus 17 |
|
Leukopenia, Thrombocytopenia, Lymphopenia, Autoimmune thrombocytopenia |
OMIM:301080 |
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2 |
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Anemia, Thrombocytopenia, Congenital thrombocytopenia, Neutropenia |
OMIM:616738 |
Thrombocytopenia, Anemia, And Myelofibrosis |
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Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly |
OMIM:617441 |
Sengers Syndrome |
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Thrombocytopenia |
OMIM:212350 |
Phosphoglycerate Dehydrogenase Deficiency |
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Megaloblastic anemia, Thrombocytopenia |
OMIM:601815 |
Thrombocytopenia With Elevated Serum Iga And Renal Disease |
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Thrombocytopenia |
OMIM:314000 |
Cholestasis, Progressive Familial Intrahepatic, 8 |
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Elevated alpha-fetoprotein, Conjugated hyperbilirubinemia, Increased serum bile acid concentratio... |
OMIM:619662 |
Hypobetalipoproteinemia, Familial, 1 |
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Steatorrhea, Decreased HDL cholesterol concentration, Acanthocytosis, Hypertriglyceridemia, Hypoc... |
OMIM:615558 |
Wolfram Syndrome, Mitochondrial Form |
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Thrombocytopenia, Megaloblastic anemia, Sideroblastic anemia, Neutropenia |
OMIM:598500 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
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Hemolytic anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly |
OMIM:314050 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
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Hyperlipidemia, Increased blood urea nitrogen, Schistocytosis, Elevated circulating creatinine co... |
OMIM:235400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
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Hyperammonemia, Leukopenia, Macrocytic anemia, Anemia, Thrombocytopenia |
ORPHA:27 |
Stuve-Wiedemann Syndrome 2 |
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Thrombocytopenia, Camptodactyly |
OMIM:619751 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Oligospermia, Male infertility, Hypogonadism, Weight loss, Abnormal testis morphology, Primary te... |
ORPHA:85450 |
Myotonic Dystrophy 1 |
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Cholelithiasis, Testicular atrophy, Cerebral atrophy, Hypogonadism |
OMIM:160900 |
Fechtner syndrome |
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Leukocyte inclusion bodies, Thrombocytopenia, Neutrophil inclusion bodies, Giant platelets |
OMIM:153640 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
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Sideroblastic anemia, Thrombocytopenia |
OMIM:617021 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
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Thrombocytopenia, Anemia, Neutropenia, Hyperammonemia |
ORPHA:289916 |
Specific Granule Deficiency 2 |
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Failure to thrive, Neutropenia, Anemia, Thrombocytopenia, Amelogenesis imperfecta, Absent neutrop... |
OMIM:617475 |
Woodhouse-Sakati Syndrome |
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Hypoplasia of the uterus, Decreased serum testosterone concentration, Hyperinsulinemia, Decreased... |
ORPHA:3464 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
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Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:264580 |
Dworschak-Punetha Neurodevelopmental Syndrome |
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Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum |
OMIM:619955 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
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Macroorchidism |
ORPHA:324410 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
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Ambiguous genitalia, female, Decreased fertility in males, Decreased circulating cortisol level, ... |
ORPHA:90791 |
46,Xx Sex Reversal 2 |
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Sex reversal, Hypoplasia of the uterus, Decreased serum testosterone concentration, Micropenis, B... |
OMIM:278850 |
Imerslund-Gräsbeck Syndrome |
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Megaloblastic anemia, Failure to thrive, Neutropenia, Anisopoikilocytosis, Macrocytic anemia, Thr... |
ORPHA:35858 |
Gaisböck Syndrome |
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Increased hematocrit, Hyperproteinemia, Elevated plasma cell count, Increased circulating renin l... |
ORPHA:90041 |
Amed Syndrome, Digenic |
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Failure to thrive, Leukopenia, Anemia, Thrombocytopenia, Acute myeloid leukemia |
OMIM:619151 |
Platelet Disorder, Familial, With Associated Myeloid Malignancy |
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Abnormal dense granule content, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal... |
OMIM:601399 |
Bleeding Disorder, Platelet-Type, 19 |
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Anemia, Macrothrombocytopenia |
OMIM:616176 |
Non-Involuting Congenital Hemangioma |
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Thrombocytopenia |
ORPHA:141179 |
Pelger-Huet Anomaly |
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Failure to thrive, Neutropenia, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils... |
OMIM:169400 |
Smith-Magenis Syndrome |
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Hypertriglyceridemia, Obesity, Failure to thrive in infancy, Hypercholesterolemia |
ORPHA:819 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
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Failure to thrive, Hypomagnesemia, Leukopenia, Hyponatremia, Hyperuricemia, Anemia, Thrombocytopenia |
OMIM:613845 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
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Splenomegaly, Elevated circulating creatine kinase concentration, Hypertriglyceridemia, Hyperchol... |
ORPHA:79240 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
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Testicular atrophy |
OMIM:601163 |
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency |
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Failure to thrive, Splenomegaly, Elevated circulating creatine kinase concentration, Abnormal ery... |
ORPHA:370 |
Congenital Toxoplasmosis |
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Anemia, Thrombocytopenia, Failure to thrive in infancy |
ORPHA:858 |
46,Xx Sex Reversal 1 |
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Sex reversal, Bicornuate uterus, Hypospadias, Elevated circulating luteinizing hormone level, Ovo... |
OMIM:400045 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
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Increased circulating ferritin concentration, Failure to thrive, Hypoproteinemia, Hemophagocytosi... |
OMIM:603553 |
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency |
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Megaloblastic anemia, Thrombocytopenia, Pancytopenia |
OMIM:613839 |
Low Phospholipid-Associated Cholelithiasis |
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Obesity, Overweight, Hypercholesterolemia |
ORPHA:69663 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Anemia, Thrombocytopenia |
OMIM:614946 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
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Azoospermia, Absent vas deferens |
OMIM:300985 |
Primary Myelofibrosis |
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Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomegaly, Thrombocy... |
ORPHA:824 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612924 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612926 |
Aicardi-Goutieres Syndrome 4 |
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Hepatosplenomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia |
OMIM:610333 |
Gapo Syndrome |
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Amenorrhea, Oligospermia, Dysmenorrhea, Hypogonadism |
ORPHA:2067 |
Aicardi-Goutieres Syndrome 5 |
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Thrombocytopenia, Flexion contracture |
OMIM:612952 |
Gaucher Disease, Type Ii |
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Failure to thrive, Anemia, Thrombocytopenia, Splenomegaly |
OMIM:230900 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
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Hemolytic anemia, Thrombocytopenia, Lymphopenia |
OMIM:616744 |
Hemiparkinsonism-Hemiatrophy Syndrome |
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Lateral ventricle dilatation |
ORPHA:306669 |
X-Linked Parkinsonism-Spasticity Syndrome |
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Lateral ventricle dilatation, Dilated third ventricle |
ORPHA:363654 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
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Colpocephaly |
OMIM:618731 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612922 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
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Leukocytosis, Hypercholesterolemia |
ORPHA:90065 |
Thyrocerebrorenal Syndrome |
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Thrombocytopenia |
ORPHA:3327 |
Immunodeficiency 47 |
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Failure to thrive, Splenomegaly, Leukopenia, Accessory spleen, Normocytic anemia, Decreased circu... |
OMIM:300972 |
Galloway-Mowat Syndrome 7 |
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Hypercholesterolemia |
OMIM:618348 |
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb |
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Hypospadias, Macroorchidism |
OMIM:618874 |
Methylmalonic Aciduria, Cblb Type |
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Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... |
OMIM:251110 |
X-Linked Agammaglobulinemia |
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Failure to thrive, Hypocalcemia, Cellulitis, Weight loss, Neutropenia, Anemia, Thrombocytopenia |
ORPHA:47 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
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Failure to thrive, Hyperammonemia, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Neutropen... |
OMIM:251000 |
Carney Complex |
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Increased circulating insulin-like growth factor 1 concentration, Pituitary growth hormone cell a... |
ORPHA:1359 |
Lysinuric Protein Intolerance |
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Increased circulating ferritin concentration, Failure to thrive, Increased LDL cholesterol concen... |
ORPHA:470 |
Hermansky-Pudlak Syndrome 9 |
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Abnormal platelet aggregation, Leukopenia, Thrombocytopenia |
OMIM:614171 |
Ciliary Dyskinesia, Primary, 5 |
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Reduced sperm motility |
OMIM:608647 |
Refractory Anemia With Excess Blasts |
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Anemia of inadequate production, Leukocytosis, Abnormal mean corpuscular volume, Abnormal circula... |
ORPHA:86839 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
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Thrombocytopenia |
OMIM:254900 |
Babesiosis |
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Hemolytic anemia, Leukopenia, Thrombocytopenia, Splenomegaly |
ORPHA:108 |
Congenital Disorder Of Glycosylation, Type Ih |
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Failure to thrive, Camptodactyly, Elevated circulating creatinine concentration, Hypoalbuminemia,... |
OMIM:608104 |
Immunodeficiency 91 And Hyperinflammation |
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Failure to thrive, Elevated circulating C-reactive protein concentration, Neutrophilia, Hemophago... |
OMIM:619644 |
Bone Marrow Failure Syndrome 4 |
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Anemia, Thrombocytopenia, Leukopenia |
OMIM:618116 |
Drug-Induced Lupus Erythematosus |
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Elevated circulating C-reactive protein concentration, Increased blood urea nitrogen, Elevated ci... |
ORPHA:231111 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
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Increased blood urea nitrogen, Elevated circulating creatinine concentration, Microangiopathic he... |
OMIM:612925 |
Isolated Thyroid-Stimulating Hormone Deficiency |
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Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Increased pi... |
ORPHA:90674 |
Relapsing Fever |
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Elevated circulating C-reactive protein concentration, Neutrophilia, Leukocytosis, Leukopenia, In... |
ORPHA:91547 |
Methylmalonic Aciduria, Cbla Type |
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Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Methylmalonic acidemia, Pancytop... |
OMIM:251100 |
Cach Syndrome |
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Primary amenorrhea, Gonadal dysgenesis, Lateral ventricle dilatation, Secondary amenorrhea, Prema... |
ORPHA:135 |
Osteopetrosis, Autosomal Recessive 4 |
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Splenomegaly, Hepatosplenomegaly, Reticulocytosis, Anemia, Thrombocytopenia |
OMIM:611490 |
Propionic Acidemia |
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Failure to thrive, Neutropenia, Hyperammonemia, Hyperglycinemia, Pancytopenia, Anemia, Thrombocyt... |
OMIM:606054 |
Lysosomal Acid Lipase Deficiency |
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Failure to thrive, Vacuolated lymphocytes, Steatorrhea, Cachexia, Hepatosplenomegaly, Hypertrigly... |
ORPHA:275761 |
Idiopathic Aplastic Anemia |
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Pancytopenia, Neutropenia, Anemia, Thrombocytopenia, Reticulocytopenia |
ORPHA:88 |
Noonan Syndrome 12 |
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Thrombocytopenia, Lymphopenia |
OMIM:618624 |
Isovaleric Acidemia |
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Leukopenia, Thrombocytopenia, Pancytopenia |
OMIM:243500 |
Agammaglobulinemia 9, Autosomal Recessive |
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Failure to thrive, Absent circulating B cells, Thrombocytopenia |
OMIM:619693 |
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome |
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Increased circulating ferritin concentration, Hepatosplenomegaly, Thrombocytopenia |
ORPHA:210136 |
Congenital Disorder Of Glycosylation, Type Iif |
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Thrombocytopenia, Macrothrombocytopenia, Decreased platelet glycoprotein Ib, Neutropenia |
OMIM:603585 |
Hemophagocytic Syndrome Associated With An Infection |
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Increased circulating ferritin concentration, Neutropenia, Abnormal T cell subset distribution, H... |
ORPHA:158048 |
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal |
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Hypertriglyceridemia, Hypercholesterolemia |
OMIM:610644 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Reduced progressive sperm motility |
OMIM:619608 |
Congenital Disorder Of Glycosylation, Type Iig |
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Anemia, Thrombocytopenia, Failure to thrive in infancy, Camptodactyly |
OMIM:611209 |
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia |
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Anemia of inadequate production, Congenital thrombocytopenia, Acanthocytosis, Poikilocytosis |
OMIM:300367 |
Methylmalonic Aciduria And Homocystinuria, Cblf Type |
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Megaloblastic anemia, Failure to thrive, Neutropenia, Hyperhomocystinemia, Cystathioninemia, Meth... |
OMIM:277380 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
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Decreased circulating androgen concentration, Abnormal external genitalia, Decreased circulating ... |
ORPHA:95699 |
16Q24.3 Microdeletion Syndrome |
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Cryptorchidism, Colpocephaly, Ventriculomegaly |
ORPHA:261250 |
Stormorken Syndrome |
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Elevated circulating creatine kinase concentration, Anemia, Thrombocytopenia, Asplenia, Howell-Jo... |
OMIM:185070 |
Alg8-Cdg |
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Failure to thrive, Small for gestational age, Camptodactyly, Abnormality of subcutaneous fat tiss... |
ORPHA:79325 |
Stt3B-Cdg |
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Failure to thrive, Thrombocytopenia |
ORPHA:370924 |
Aggressive Systemic Mastocytosis |
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Neutropenia, Abnormal mast cell morphology, Leukocytosis, Hepatosplenomegaly, Thrombocytopenia, I... |
ORPHA:98850 |
Thrombocytopenia, Paris-Trousseau Type |
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Thrombocytopenia |
OMIM:188025 |
Fetal Gaucher Disease |
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Flexion contracture, Splenomegaly, Abnormality of the spleen, Arthrogryposis multiplex congenita,... |
ORPHA:85212 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Colpocephaly, Ventriculomegaly, Communicating hydrocephalus |
OMIM:615219 |
Megalocornea-Mental Retardation Syndrome |
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Hypercholesterolemia |
OMIM:249310 |
Trisomy 20P |
|
Hypospadias, Cryptorchidism, Macroorchidism |
ORPHA:261318 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
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Failure to thrive, Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Platelet Disorder, Undefined |
|
Impaired platelet aggregation, Thrombocytopenia |
OMIM:173420 |
Deafness-Lymphedema-Leukemia Syndrome |
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Leukocytosis, Splenomegaly, Myeloproliferative disorder, Abnormal neutrophil count, Weight loss, ... |
ORPHA:3226 |
Bleeding Disorder, Platelet-Type, 17 |
|