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Gene: Sun5 MGI:1923657

Gene Summary

Name:

Sad1 and UNC84 domain containing 5

Synonyms:

1700021O15Rik, Spag4l

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype	Allele	Zyg	Life Stage	P Value
decreased circulating calcium level	Sun5^em1(IMPC)Mbp	HOM	Early adult	1.27×10^-05
enlarged testis	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00
prolonged QT interval	Sun5^em1(IMPC)Mbp	HOM	Late adult	3.84×10^-06
thrombocytopenia	Sun5^em1(IMPC)Mbp	HOM	Late adult	1.80×10^-05
enlarged lymph nodes	Sun5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal eye morphology	Sun5^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged spleen	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal liver morphology	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00
male infertility	Sun5^em1(IMPC)Mbp	HOM	Early adult	0.00
enlarged seminal vesicle	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal testis morphology	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00
abnormal lymph node morphology	Sun5^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal spleen morphology	Sun5^em1(IMPC)Mbp	HOM	Late adult	0.00

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Histopathology

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Human diseases caused by Sun5 mutations

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

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

Human diseases associated with Sun5 (2 diseases)
Human diseases predicted to be associated with Sun5 (1245 diseases)

The table below shows human diseases associated to Sun5 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Male Infertility Due To Acephalic Spermatozoa		Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 16		Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187

The table below shows human diseases predicted to be associated to Sun5 by phenotypic similarity.

Disease	Matching phenotypes	Source
Spermatogenic Failure 78	Male infertility, Tapered sperm head, Microcephalic sperm head	OMIM:620170
Spermatogenic Failure 36	Male infertility, Abnormal sperm morphology	OMIM:618420
Spermatogenic Failure 35	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f...	OMIM:618341
Spermatogenic Failure 20	Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella	OMIM:617593
Spermatogenic Failure 86	Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru...	OMIM:620499
Spermatogenic Failure 5	Male infertility, Macrozoospermia, Multiflagellar spermatozoa	OMIM:243060
Spermatogenic Failure 31	Acephalic spermatozoa, Male infertility	OMIM:618112
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 87	Male infertility, Ruffled acrosome	OMIM:620500
Spermatogenic Failure 26	Acephalic spermatozoa, Male infertility	OMIM:617961
Spermatogenic Failure 42	Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe...	OMIM:618745
Spermatogenic Failure, X-Linked, 7	Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res...	OMIM:301106
Spermatogenic Failure 85	Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi...	OMIM:620490
Spermatogenic Failure 6	Male infertility, Globozoospermia, Decreased acrosin in sperm head	OMIM:102530
Spermatogenic Failure 39	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili...	OMIM:618643
Spermatogenic Failure 54	Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol...	OMIM:619379
Male Infertility Due To Acephalic Spermatozoa	Male infertility, Acephalic spermatozoa, Oligozoospermia, Abnormal sperm mid-piece morphology, Re...	ORPHA:529970
Spermatogenic Failure 41	Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Immotile sperm	OMIM:618670
Spermatogenic Failure 21	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617644
Spermatogenic Failure 16	Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:617187
Spermatogenic Failure 72	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced progre...	OMIM:619867
Spermatogenic Failure 34	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:618153
Spermatogenic Failure 64	Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti...	OMIM:619696
Spermatogenic Failure 33	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618152
Spermatogenic Failure 37	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:618429
Spermatogenic Failure 18	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:617576
Spermatogenic Failure 46	Short sperm flagella, Male infertility, Reduced sperm motility, Absent sperm flagella, Irregularl...	OMIM:619095
Spermatogenic Failure 27	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Reduced sperm ...	OMIM:617965
Spermatogenic Failure 51	Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz...	OMIM:619177
Spermatogenic Failure 9	Male infertility, Globozoospermia	OMIM:613958
Spermatogenic Failure 67	Male infertility, Globozoospermia	OMIM:619803
Spermatogenic Failure 68	Male infertility, Globozoospermia	OMIM:619805
Spermatogenic Failure 69	Male infertility, Globozoospermia	OMIM:619826
Spermatogenic Failure 66	Male infertility, Globozoospermia	OMIM:619799
Spermatogenic Failure 43	Male infertility, Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm...	OMIM:618751
Spermatogenic Failure 19	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:617592
Spermatogenic Failure 82	Short sperm flagella, Male infertility, Coiled sperm flagella, Reduced progressive sperm motility...	OMIM:620353
Spermatogenic Failure 49	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619144
Spermatogenic Failure 45	Short sperm flagella, Male infertility, Reduced sperm motility, Coiled sperm flagella, Absent spe...	OMIM:619094
Spermatogenic Failure 11	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Male infertility, Oligozoospermia, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 24	Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile...	OMIM:617959
Deafness-Infertility Syndrome	Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit...	OMIM:611102
Spermatogenic Failure, X-Linked, 5	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:301099
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Male infertility, Abnormal sperm morphology, Immotile sperm	OMIM:608653
Spermatogenic Failure 65	Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red...	OMIM:619712
Spermatogenic Failure, X-Linked, 3	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla...	OMIM:301059
Spermatogenic Failure 40	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C...	OMIM:618664
Spermatogenic Failure 83	Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper...	OMIM:620354
Spermatogenic Failure 80	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Abse...	OMIM:620222
Spermatogenic Failure 76	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Irregularly shap...	OMIM:620084
Spermatogenic Failure 47	Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella	OMIM:619102
Spermatogenic Failure 84	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620409
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper...	ORPHA:399808
Spermatogenic Failure 56	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:619515
Spermatogenic Failure 79	Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility	OMIM:620196
Spermatogenic Failure, X-Linked, 6	Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ...	OMIM:301101
Spermatogenic Failure 58	Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo...	OMIM:619585
Spermatogenic Failure 81	Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility	OMIM:620277
Spermatogenic Failure 38	Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m...	OMIM:618433
Spermatogenic Failure 62	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 88	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:620547
Spermatogenic Failure 73	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619878
Spermatogenic Failure 59	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619645
Spermatogenic Failure 60	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619646
Spermatogenic Failure 74	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:619937
Spermatogenic Failure 57	Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat...	OMIM:619528
Spermatogenic Failure 1	Male infertility, Oligozoospermia, Cryptozoospermia	OMIM:258150
Spermatogenic Failure 25	Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm...	OMIM:617960
Spermatogenic Failure 48	Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia	OMIM:619108
Spermatogenic Failure 44	Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility	OMIM:619044
Spermatogenic Failure 50	Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia	OMIM:619145
Spermatogenic Failure 32	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Male infertility, Sertoli cell-only phenotype, Non-obstructive azoospermia	OMIM:619831
Partial Chromosome Y Deletion	Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr...	ORPHA:1646
Spermatogenic Failure 22	Male infertility, Cryptozoospermia, Non-obstructive azoospermia	OMIM:617706
Spermatogenic Failure 63	Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility	OMIM:619689
Spermatogenic Failure 30	Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism	OMIM:618110
Spermatogenic Failure 7	Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility	OMIM:612997
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Spermatogenic Failure 70	Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia	OMIM:619828
Spermatogenic Failure 17	Male infertility	OMIM:617214
Isochromosomy Yp	Decreased testicular size, Ambiguous genitalia, Male infertility, Azoospermia	ORPHA:98797
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Ciliary Dyskinesia, Primary, 50	Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit...	OMIM:620356
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
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
Isochromosomy Yq	Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Gonada...	ORPHA:98798
Spermatogenic Failure 12	Infertility, Abnormal male germ cell morphology, Azoospermia	OMIM:615413
Spermatogenic Failure, X-Linked, 2	Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia	OMIM:309120
Spermatogenic Failure 75	Male infertility, Spermatocyte maturation arrest, Non-obstructive azoospermia	OMIM:619949
Spermatogenic Failure 8	Oligozoospermia, Cryptozoospermia, Azoospermia	OMIM:613957
Spermatogenic Failure 77	Male infertility, Multiflagellar spermatozoa, Azoospermia, Oligozoospermia, Cryptorchidism	OMIM:620103
Ciliary Dyskinesia, Primary, 51	Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress...	OMIM:620438
Azoospermia, Obstructive, With Nephrolithiasis	Obstructive azoospermia, Male infertility, Spermatocele	OMIM:301060
Deleted in azoospermia	Azoospermia	OMIM:400003
Young Syndrome	Obstructive azoospermia, Decreased fertility	ORPHA:3471
Persistent Mullerian Duct Syndrome, Types I And Ii	Male infertility, Bilateral cryptorchidism	OMIM:261550
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob...	ORPHA:399805
3-Methylglutaconic Aciduria, Type V	Congestive heart failure, Prolonged QT interval, Hypospadias, Microvesicular hepatic steatosis, N...	OMIM:610198
Jervell And Lange-Nielsen Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Sudden cardiac death, Syncope, Torsade de pointes	OMIM:220400
Long Qt Syndrome 2	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril...	OMIM:613688
Intellectual Developmental Disorder, X-Linked 14	Macroorchidism	OMIM:300062
Long Qt Syndrome 13	Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn...	OMIM:613485
Spermatogenic Failure 15	Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest	OMIM:616950
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome	Macroorchidism	ORPHA:85320
Spermatogenic Failure 2	Male infertility, Oligozoospermia, Non-obstructive azoospermia, Azoospermia	OMIM:108420
Neonatal Lupus Erythematosus	Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P...	ORPHA:398124
Long Qt Syndrome 10	Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card...	OMIM:611819
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Long Qt Syndrome 6	Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Ventricular fibrillation, Sudden c...	OMIM:613693
Ventricular Tachycardia, Catecholaminergic Polymorphic, 3	Polymorphic ventricular tachycardia, Prolonged QT interval, Paroxysmal ventricular tachycardia, P...	OMIM:614021
Spinocerebellar Ataxia Type 32	Male infertility, Testicular atrophy, Azoospermia	ORPHA:276183
Long Qt Syndrome 14	2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card...	OMIM:616247
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Atrial Fibrillation, Familial, 9	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Syncope, P...	OMIM:613980
Congenital Bilateral Absence Of Vas Deferens	Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia	ORPHA:48
Beemer Lethal Malformation Syndrome	Ambiguous genitalia, Thrombocytopenia	OMIM:209970
Long Qt Syndrome 1	Prolonged QT interval, Prolonged QTc interval, Ventricular fibrillation, Sudden cardiac death, Sy...	OMIM:192500
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy, Axillary lymphadenopathy, Inguinal lymphadenopathy	OMIM:616126
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly, Congestive heart failure, Macroorchidism	OMIM:300886
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Splenomegaly, Abnormal hemoglobin	ORPHA:231393
Atrial Fibrillation, Familial, 3	Paroxysmal atrial fibrillation, Prolonged QTc interval, Atrial fibrillation, Permanent atrial fib...	OMIM:607554
Intellectual Developmental Disorder, X-Linked 2	Macroorchidism	OMIM:300428
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome	Hepatomegaly, Splenomegaly	ORPHA:2274
Familial Peripheral Male-Limited Precocious Puberty	Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism	ORPHA:3000
Hypocalcemia, Autosomal Dominant 2	Hypocalcemia, Abnormal blood phosphate concentration	OMIM:615361
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus	Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:620197
Alpha-Heavy Chain Disease	Hypocalcemia, Splenomegaly, Lymphadenopathy	ORPHA:100025
Sea-Blue Histiocyte Disease	Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T...	OMIM:269600
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked	Absent vas deferens, Male infertility, Azoospermia	OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of	Absent vas deferens, Male infertility, Azoospermia	OMIM:277180
Ring Chromosome Y Syndrome	Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil...	ORPHA:261529
Erythroleukemia, Familial, Susceptibility To	Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas...	OMIM:133180
Long Qt Syndrome 9	Abnormal U wave, Prolonged QT interval, Cardiac arrest, Sinus bradycardia, Ventricular arrhythmia...	OMIM:611818
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Male infertility, Hypocalcemic seizures, Hypocalcemia, Hypomagnesemia, Hyperphosphatemia	ORPHA:2239
Mental retardation, x-linked, syndromic, Turner type	Macroorchidism	OMIM:300706
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Long Qt Syndrome 11	Syncope, Prolonged QTc interval	OMIM:611820
Brugada Syndrome 9	Presyncope, ST segment elevation, Prolonged QT interval, Palpitations	OMIM:616399
Hypoparathyroidism, Familial Isolated, 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:618883
Hepatic Venoocclusive Disease With Immunodeficiency	Absence of lymph node germinal center	OMIM:235550
Partington Syndrome	Facial telangiectasia, Macroorchidism	ORPHA:94083
Cardiac Arrhythmia Syndrome, With Or Without Skeletal Muscle Weakness	Polymorphic ventricular tachycardia, Prolonged QT interval, Cardiac arrest, Premature ventricular...	OMIM:615441
Spermatogenic Failure 28	Decreased testicular size, Male infertility, Non-obstructive azoospermia	OMIM:618086
Isolated Follicle Stimulating Hormone Deficiency	Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular atrophy, Female hyp...	ORPHA:52901
Jervell And Lange-Nielsen Syndrome 2	Prolonged QT interval, Premature ventricular contraction, Sudden cardiac death, Syncope, Torsade ...	OMIM:612347
Progressive Familial Heart Block, Type Ib	Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ...	OMIM:604559
Sick Sinus Syndrome 1	Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove...	OMIM:608567
Prolactin Deficiency With Obesity And Enlarged Testes	Macroorchidism, Reduced circulating prolactin concentration	OMIM:264120
Lipodystrophy, Congenital Generalized, Type 3	Hypertriglyceridemia, Hypocalcemia, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Hyperch...	OMIM:612526
Spermatogenic Failure 14	Male infertility, Round spermatid arrest, Azoospermia	OMIM:615842
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy	Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr...	OMIM:616117
Autosomal Recessive Spastic Paraplegia Type 46	Abnormal sperm head morphology, Infertility, Decreased testicular size, Reduced sperm motility, A...	ORPHA:320391
Cardiomyopathy, Dilated, 1D	Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco...	OMIM:601494
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Epistaxis	ORPHA:721
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)	Hypocalcemia	DECIPHER:16
Jervell And Lange-Nielsen Syndrome	Iron deficiency anemia, Prolonged QTc interval, Ventricular fibrillation, Arrhythmia, Syncope, To...	ORPHA:90647
Preeclampsia/Eclampsia 1	Elevated circulating hepatic transaminase concentration, Hypertension, Thrombocytopenia	OMIM:189800
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrocele testis, Thrombocytopenia, Hepatosplenomegaly, Congenital thrombocytopenia, Neut...	OMIM:616738
Long Qt Syndrome 16	Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia	OMIM:618782
Hemoglobin H Disease	HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia	OMIM:613978
Cardiac Arrhythmia, Ankyrin-B-Related	Prolonged QT interval, Atrial fibrillation, Sinus bradycardia, Syncope, Sudden cardiac death	OMIM:600919
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Follicular hyperplasia	ORPHA:60026
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Hypocalcemia, Elevated circulating gamma-aminobutyric acid concentration, Splenomegaly	OMIM:619658
Young Syndrome	Azoospermia	OMIM:279000
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary...	OMIM:615285
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Hepatomegaly, Thrombocytopenia	ORPHA:1980
Cardiomyopathy, Familial Hypertrophic, 27	Congestive heart failure, Prolonged QT interval, Concentric hypertrophic cardiomyopathy, Cardiac ...	OMIM:618052
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F	ORPHA:46532
Sick Sinus Syndrome 2	Paroxysmal atrial fibrillation, Sick sinus syndrome, Aortic regurgitation, Atrial fibrillation, P...	OMIM:163800
Progressive Familial Intrahepatic Cholestasis	Hypocalcemia, Splenomegaly	ORPHA:172
Hypomagnesemia 1, Intestinal	Hypocalcemia, Hypomagnesemia	OMIM:602014
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Polycythemia Vera	Gastrointestinal hemorrhage, Increased red blood cell mass, Leukocytosis, Cerebral ischemia, Budd...	OMIM:263300
Cirrhotic Cardiomyopathy	Elevated pulmonary artery pressure, Congestive heart failure, Cirrhosis, Jaundice, Hepatomegaly, ...	ORPHA:57777
Long Qt Syndrome 15	2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi...	OMIM:616249
Hemochromatosis, Type 2B	Congestive heart failure, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transamin...	OMIM:613313
Spinocerebellar Ataxia 32	Infertility, Testicular atrophy, Azoospermia	OMIM:613909
Glycoprotein Storage Disease	Splenomegaly	OMIM:232900
Spermatogenic Failure 13	Male infertility, Azoospermia	OMIM:615841
Pseudohypoparathyroidism Type 2	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94090
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Long Qt Syndrome 5	Torsade de pointes, Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope,...	OMIM:613695
Neutrophilia, Hereditary	Neutrophilia, Splenomegaly	OMIM:162830
Trimethylaminuria	Anemia, Hypertension, Splenomegaly, Tachycardia, Neutropenia	OMIM:602079
Long Qt Syndrome 12	Prolonged QTc interval, Ventricular fibrillation, Syncope, Torsade de pointes	OMIM:612955
Hemoglobin D Disease	Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ...	ORPHA:90039
Intellectual Developmental Disorder, X-Linked, Syndromic, Shashi Type	Macroorchidism	OMIM:300238
Spermatogenic Failure, X-Linked, 4	Male infertility, Azoospermia	OMIM:301077
Isolated Splenogonadal Fusion	Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt...	ORPHA:457083
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hypertension, Thrombocytopenia	OMIM:166990
Atrial Fibrillation, Familial, 7	Paroxysmal atrial fibrillation, Prolonged QTc interval, Permanent atrial fibrillation, Premature ...	OMIM:612240
Sick Sinus Syndrome 4	Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma...	OMIM:619464
Long Qt Syndrome 3	Torsade de pointes, Prolonged QTc interval, Ventricular flutter, Ventricular fibrillation, Syncop...	OMIM:603830
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells	Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia	OMIM:183350
Tako-Tsubo Cardiomyopathy	Prolonged QT interval, Bradycardia, Palpitations, Low-output congestive heart failure, Mildly red...	ORPHA:66529
Thrombocytopenia 7	Impaired ADP-induced platelet aggregation, Reduced platelet alpha granules, Impaired collagen-ind...	OMIM:619130
Beta-Thalassemia, Dominant Inclusion Body Type	Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E...	OMIM:603902
Megalencephaly	Macroorchidism, Long penis	ORPHA:2477
Cardiomyopathy, Familial Hypertrophic, 26	Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril...	OMIM:617047
Transaldolase Deficiency	Cirrhosis, Anemia, Abnormal clitoris morphology, Thrombocytopenia, Hepatosplenomegaly, Telangiect...	ORPHA:101028
Long Qt Syndrome 8	Prolonged QTc interval, Ventricular fibrillation, Sinus bradycardia, Syncope, Aborted sudden card...	OMIM:618447
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Acquired Idiopathic Sideroblastic Anemia	Congestive heart failure, Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic a...	ORPHA:75564
Thrombocytopenia With Beta-Thalassemia, X-Linked	Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni...	OMIM:314050
Romano-Ward Syndrome	Torsade de pointes, Prolonged QTc interval, Sinus bradycardia, Ventricular arrhythmia, Syncope, S...	ORPHA:101016
Granulomatous Slack Skin	Hypercalcemia, Abnormal lymph node morphology	ORPHA:33111
Pseudohypoparathyroidism, Type Ii	Hypocalcemia, Hyperphosphatemia	OMIM:203330
Amegakaryocytic Thrombocytopenia, Congenital, 1	Thrombocytopenia, Amegakaryocytic thrombocytopenia, Pancytopenia	OMIM:604498
Hyperbilirubinemia, Shunt, Primary	Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid...	OMIM:237800
Anemia, Congenital Dyserythropoietic, Type Ii	Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly	OMIM:224100
Beta-Thalassemia	Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly...	ORPHA:848
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly...	OMIM:603552
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Autoimmune hemolytic anemia, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune thrombocytope...	ORPHA:444463
Myopathy, Tubular Aggregate, 2	Hypocalcemia, Elevated circulating creatine kinase concentration	OMIM:615883
17Q11.2 Microduplication Syndrome	Macroorchidism	ORPHA:139474
Dilated Cardiomyopathy With Ataxia	Hypochromic microcytic anemia, Elevated circulating hepatic transaminase concentration, Prolonged...	ORPHA:66634
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Anisocytosis, Macrothrombocytopenia, Cryptorchid...	ORPHA:67044
Congenital Heart Block	Congestive heart failure, Bradycardia, Prolonged QTc interval, Gallop rhythm, Abnormal heart valv...	ORPHA:60041
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism	Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia	OMIM:206400
Portal Hypertension, Noncirrhotic, 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ...	OMIM:619463
Atkin-Flaitz Syndrome	Macroorchidism	ORPHA:1193
Kerion Celsi	Lymphadenopathy	ORPHA:499
Immunodeficiency 75 With Lymphoproliferation	Follicular hyperplasia, Hepatosplenomegaly, Lymphadenopathy	OMIM:619126
Hypogonadism-Cataract Syndrome	Infertility, Male hypogonadism, Hypogonadism	OMIM:240950
Hemochromatosis, Type 2A	Congestive heart failure, Cirrhosis, Hepatomegaly, Azoospermia, Cardiomyopathy, Splenomegaly, Arr...	OMIM:602390
Neutropenia, Severe Congenital, 9, Autosomal Dominant	Splenomegaly	OMIM:619813
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Congestive heart failure, Macroorchidism	ORPHA:3077
Phosphoglycerate Dehydrogenase Deficiency	Decreased testicular size, Megaloblastic anemia, Thrombocytopenia	OMIM:601815
Alpha-Thalassemia-Myelodysplastic Syndrome	Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia	ORPHA:231401
Ciliary Dyskinesia, Primary, 45	Absent inner and outer dynein arms, Male infertility	OMIM:618801
Intellectual Developmental Disorder, X-Linked 21	Macroorchidism	OMIM:300143
Testicular Regression Syndrome	Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni...	ORPHA:983
X-Linked Intellectual Disability, Shashi Type	Macroorchidism	ORPHA:85286
Fragile X Syndrome	Macroorchidism, postpubertal, Congenital macroorchidism	OMIM:300624
Immunodeficiency 16	Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia	OMIM:615593
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Congestive heart failure, Atrial flutter, Tricuspid regurgitation, Aortic valve stenosis, Cardiom...	ORPHA:324410
Aicardi-Goutieres Syndrome 3	Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-marrow foam cells, Thrombocytopenia, Splenomegaly	OMIM:607616
Polyembryoma	Isosexual precocious puberty, Macroorchidism, Abdominal mass, Abnormal peritoneum morphology	ORPHA:180229
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism	OMIM:610539
Bleeding Disorder, Platelet-Type, 19	Macrothrombocytopenia, Thrombocytopenia, Anemia, Epistaxis	OMIM:616176
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypokalemia	OMIM:620152
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Hepatomegaly, Splenomegaly	OMIM:606445
Familial Short Qt Syndrome	Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor...	ORPHA:51083
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Thrombocythemia 1	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:187950
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy	OMIM:613987
2P21 Microdeletion Syndrome	Hypocalcemia, Hypogonadism	ORPHA:163693
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Refractory Anemia	Normocytic anemia, Erythroid hypoplasia, Normochromic anemia, Macrocytic anemia, Abnormal cardiac...	ORPHA:98826
Acquired Aneurysmal Subarachnoid Hemorrhage	Congestive heart failure, Ischemic stroke, Prolonged QTc interval, Syncope, Hypertension, Leukocy...	ORPHA:90065
Bleeding Disorder, Platelet-Type, 16	Platelet anisocytosis, Giant platelets, Anemia, Impaired platelet aggregation, Thrombocytopenia, ...	OMIM:187800
Myofibrillar Myopathy 10	Increased QRS voltage, Prolonged QTc interval, Left ventricular hypertrophy	OMIM:619040
Proteasome-Associated Autoinflammatory Syndrome 5	Hepatomegaly, Splenomegaly	OMIM:619175
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:79301
Platelet Signal Processing Defect	Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Imp...	OMIM:173590
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Elevated circulating hepatic transaminase concentration, Portal hypertension, Abnormality of the ...	ORPHA:210136
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase	Splenomegaly, Recurrent pancreatitis	OMIM:118830
Hypoparathyroidism, Familial Isolated, 1	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:146200
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Impaired clot retraction, Impaired ADP-induced platelet aggregation, Incre...	OMIM:615193
Tyrosinemia Type 1	Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma	ORPHA:882
Brugada Syndrome 3	J wave, Atrial fibrillation, Shortened QT interval, Ventricular arrhythmia, Syncope, Sudden cardi...	OMIM:611875
Hemoglobin C-Beta-Thalassemia Syndrome	Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin	ORPHA:231242
Hypertriglyceridemia, Transient Infantile	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr...	OMIM:614480
Hepatoportal Sclerosis	Abnormal liver parenchyma morphology, Gastrointestinal hemorrhage, Jaundice, Anemia, Elevated cir...	ORPHA:64743
Hypereosinophilic Syndrome, Idiopathic	Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Splenomegaly, Eosinophilia	OMIM:607685
Aicardi-Goutieres Syndrome 6	Hepatomegaly, Thrombocytopenia, Splenomegaly, Hemolytic anemia	OMIM:615010
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Non-Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141179
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia, Ascites, Hypertrophic cardiomyopathy	ORPHA:295
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Lef...	ORPHA:251274
Babesiosis	Congestive heart failure, Myocardial infarction, Jaundice, Hepatomegaly, Leukopenia, Splenomegaly...	ORPHA:108
Red Cell Phospholipid Defect With Hemolysis	Intermittent jaundice, Splenomegaly, Reticulocytosis	OMIM:179700
Short Qt Syndrome 1	Paroxysmal atrial fibrillation, Cardiac arrest, Shortened QT interval, Syncope, Palpitations, Sud...	OMIM:609620
Timothy Syndrome	Prolonged QT interval, Bradycardia, Pulmonary arterial hypertension, Atrioventricular block, Card...	OMIM:601005
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Macroorchidism, Elevated circulating growth hormone concentration	ORPHA:85327
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Azoospermia, Infertility, Decreased testicular size, Hypogonadism, Primary amenorrhea	OMIM:229070
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Impaired ADP-induced platelet aggregation, Impaired collagen-induced...	OMIM:618462
Multifocal Atrial Tachycardia	Atrial flutter, Tachycardia, Atrial fibrillation, Effort-induced polymorphic ventricular tachycar...	ORPHA:3282
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Anemia, Abnormal hemoglobin	ORPHA:3319
47,Xyy Syndrome	Hypospadias, Azoospermia, Oligozoospermia, Varicocele, Increased circulating gonadotropin level, ...	ORPHA:8
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Lymphadenopathy, Hemophagocytosis, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly	OMIM:613101
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Neutrophil inclusion bodies, Giant platelets, Impaired epinephrine-induced platelet aggregation, ...	OMIM:155100
Andersen-Tawil Syndrome	Torsade de pointes, Polymorphic ventricular tachycardia, Prolonged QT interval, Prominent U wave,...	ORPHA:37553
Clark-Baraitser syndrome	Macroorchidism	OMIM:300602
Aicardi-Goutieres Syndrome 4	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop...	OMIM:610333
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Diffuse Neonatal Hemangiomatosis	Hepatomegaly, Anemia, Abnormal vagina morphology, Ascites, Thrombocytopenia	ORPHA:2123
Ciliary Dyskinesia, Primary, 34	Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti...	OMIM:617091
Thrombocytopenia, Anemia, And Myelofibrosis	Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly	OMIM:617441
Stt3B-Cdg	Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis	ORPHA:370924
Immunodeficiency 104	Splenomegaly, Hepatomegaly, Lymphadenopathy, T lymphocytopenia	OMIM:608971
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia...	OMIM:235700
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abnormal lymph node morphology, Abnormality of the ovary, Decreased ...	ORPHA:543
Eosinophilia, Familial	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	OMIM:131400
Mccune-Albright Syndrome	Hepatocellular adenoma, Pancreatitis, Pancytopenia, Cholestasis, Abnormal testis morphology, Prec...	ORPHA:562
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hypocalcemia, Increased circulating renin level, Hypomagnesemia, Hyperphosphatemia	OMIM:601198
Pseudohypoparathyroidism, Type Ib	Hypocalcemia, Hyperphosphatemia	OMIM:603233
Sinoatrial Node Dysfunction And Deafness	Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia	OMIM:614896
Ras-Associated Autoimmune Leukoproliferative Disorder	Hepatomegaly, Pancytopenia, Lymphocytosis, Splenomegaly, Hemolytic anemia, Autoimmune thrombocyto...	OMIM:614470
Portal Hypertension, Noncirrhotic, 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper...	OMIM:617068
Nephronophthisis 19	Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ...	OMIM:616217
Chronic Myeloid Leukemia	Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl...	ORPHA:521
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus	OMIM:616622
Immunodeficiency 69	Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy...	OMIM:618963
Encephalopathy Due To Prosaposin Deficiency	Hepatomegaly, Splenomegaly	ORPHA:139406
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	OMIM:616860
Cholesteryl Ester Storage Disease	Cirrhosis, Hepatomegaly, Anemia, Periportal fibrosis, Bone-marrow foam cells, Portal hypertension...	OMIM:278000
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia	OMIM:618852
Bile Acid Synthesis Defect, Congenital, 5	Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra...	OMIM:616278
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran...	ORPHA:158057
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Cryptorchidism, Thrombocytopenia, Micropenis	OMIM:615597
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Bra...	OMIM:613327
Bleeding Disorder, Platelet-Type, 24	Platelet anisocytosis, Impaired epinephrine-induced platelet aggregation, Impaired ADP-induced pl...	OMIM:619271
Cholestasis, Progressive Familial Intrahepatic, 12	Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,...	OMIM:620010
Lujan-Fryns Syndrome	Macroorchidism	ORPHA:776
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Prolonged QT interval, Bifid scrotum, Hypospadias, Azoospermia, Urogen...	ORPHA:1772
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Anemia, Acute myeloid leukemia, Pancytopenia, Increased mean corpuscular volume, Bone marrow hypo...	OMIM:619041
Ulna Metaphyseal Dysplasia Syndrome	Hypercalcemia	OMIM:191420
Spherocytosis, Type 5	Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia...	OMIM:612690
Hemochromatosis, Type 1	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase conc...	OMIM:235200
Drug-Induced Lupus Erythematosus	Prolonged QTc interval, Pericarditis, Thrombocytopenia, Anemia	ORPHA:231111
Xp22.13P22.2 Duplication Syndrome	Polycystic ovaries, Macroorchidism	ORPHA:284180
Non-Functioning Pituitary Adenoma	Decreased response to growth hormone stimulation test, Male hypogonadism, Reduced circulating pro...	ORPHA:91349
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets, Gastrointestinal hemorrhage	OMIM:137560
Anemia, Congenital Dyserythropoietic, Type Ib	Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,...	OMIM:615631
Rapidly Involuting Congenital Hemangioma	Hepatic hemangioma, Telangiectasia of the skin, Thrombocytopenia, Congestive heart failure	ORPHA:141184
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin...	OMIM:602347
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Jaundice, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Hepatom...	ORPHA:26793
Splenoportal Vascular Anomalies	Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis	OMIM:271500
Bone Marrow Failure Syndrome 2	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:615715
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Arrhythmia, Cryptorchidism, Thiamine-resp...	OMIM:249270
Fragile X Syndrome	Macroorchidism	ORPHA:908
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Impaired platelet aggregation, Thrombocytopenia	OMIM:124900
Incessant Infant Ventricular Tachycardia	Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr...	ORPHA:45453
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Va...	OMIM:308240
Androgen Insensitivity, Partial	Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor...	OMIM:312300
Congenital Toxoplasmosis	Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen...	ORPHA:858
Osteopetrosis, Autosomal Recessive 8	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:615085
Anemia, Hypochromic Microcytic, With Iron Overload 2	Hepatomegaly, Anemia, Azoospermia, Hypochromia, Poikilocytosis, Sideroblastic anemia, Elevated he...	OMIM:615234
Moyamoya Disease With Early-Onset Achalasia	Hypertension, Thrombocytopenia, Raynaud phenomenon, Abnormal platelet aggregation	ORPHA:401945
Sclerosing Cholangitis, Neonatal	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole...	OMIM:617394
Glycosylphosphatidylinositol Biosynthesis Defect 1	Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension	OMIM:610293
Functioning Gonadotropic Adenoma	Decreased response to growth hormone stimulation test, Isosexual precocious puberty, Pituitary go...	ORPHA:91348
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R...	ORPHA:251380
Blue Diaper Syndrome	Abnormal circulating tryptophan concentration, Hypercalcemia	OMIM:211000
Thrombocytopenia 9	Thrombocytopenia, Abnormal platelet aggregation	OMIM:620478
Short Qt Syndrome 7	Cardiac arrest, Ventricular fibrillation, Shortened QT interval, Syncope, Sudden cardiac death	OMIM:620231
Refractory Celiac Disease	Hypocalcemia, Hypoproteinemia, Hypomagnesemia, Hypophosphatemia, Abnormal spleen physiology, Hypo...	ORPHA:398063
Short Qt Syndrome 2	Bradycardia, Atrial fibrillation, Ventricular fibrillation, Shortened QT interval, Syncope, Sudde...	OMIM:609621
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Fetal ascites, Hepatomegaly, Splenomegaly	OMIM:619462
Transaldolase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertrophy, Pancytopenia, He...	OMIM:606003
Dehydrated Hereditary Stomatocytosis 2	Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,...	OMIM:616689
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:158029
Primary Myelofibrosis	Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte...	ORPHA:824
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Gastrointestinal hemorrhage, Hepatomegaly, Iron deficiency anemia, L...	OMIM:603909
Hemangioma-Thrombocytopenia Syndrome	Ventricular arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia	OMIM:141000
Erythrocytosis, Familial, 8	Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo...	OMIM:222800
Cholestasis, Progressive Familial Intrahepatic, 9	Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp...	OMIM:619849
Spondyloepiphyseal Dysplasia, Nishimura Type	Hypocalcemia, Hyperphosphatemia	OMIM:618618
Adamantinoma	Hypercalcemia	ORPHA:55881
Autosomal Recessive Kenny-Caffey Syndrome	Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93324
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia, Epistaxis	OMIM:613554
Congenital Disorder Of Glycosylation, Type Ik	Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism	OMIM:608540
Brugada Syndrome	Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc...	ORPHA:130
Premature Ovarian Failure 10	Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,...	OMIM:612885
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Anemia, Portal hypertension, Thrombocytopenia, Lymphopenia, Cryptorchidism	OMIM:620365
Kimura Disease	Follicular hyperplasia, Lymphadenopathy	ORPHA:482
Systemic Lupus Erythematosus 17	Hypertensive crisis, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Lymphopenia, Autoimmune th...	OMIM:301080
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Male hypogonadism, Macroorchidism	OMIM:300055
Autoimmune Hypoparathyroidism	Autoimmune hypoparathyroidism, Abnormal left ventricular function, Prolonged QT interval, Ventric...	ORPHA:36913
Spherocytosis, Type 1	Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:182900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia	ORPHA:79312
Gaucher Disease, Type Iii	Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia	OMIM:231000
Leishmaniasis	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	ORPHA:507
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia	ORPHA:2151
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Immunodeficiency 52	Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ...	OMIM:617514
Neutropenia, Severe Congenital, 10, Autosomal Recessive	Thrombocytopenia, Monocytosis, Anemia, Neutropenia	OMIM:620534
Renal Tubular Acidosis, Distal, 1	Hypocalcemia, Elevated circulating creatinine concentration, Hypokalemia	OMIM:179800
X-Linked Agammaglobulinemia	Hypocalcemia, Abnormality of the tonsils, Abnormality of the lymphatic system	ORPHA:47
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Female external genitalia in individual with 46,XY karyotype, Abnormal female external genitalia ...	ORPHA:90790
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Prolonged QT interval	OMIM:615351
Hemoglobin E Disease	Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H...	ORPHA:2133
Gaucher Disease, Type I	Hepatomegaly, Anemia, Pancytopenia, Hypertension, Pulmonary arterial hypertension, Aortic valve s...	OMIM:230800
Idiopathic Neonatal Atrial Flutter	Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra...	ORPHA:45452
Acute Myelomonocytic Leukemia	Eosinophilia, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:517
Cholestasis, Progressive Familial Intrahepatic, 10	Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat...	OMIM:619868
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Bleeding Disorder, Platelet-Type, 25	Spontaneous, recurrent epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-in...	OMIM:620486
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil...	ORPHA:766
Lymphoproliferative Syndrome 1	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni...	OMIM:613011
Wolman Disease	Hepatomegaly, Acute hepatic failure, Splenomegaly	OMIM:620151
Bernard-Soulier Syndrome	Gastrointestinal hemorrhage, Giant platelets, Thrombocytopenia, Epistaxis, Macrothrombocytopenia,...	OMIM:231200
Erythrocytosis, Familial, 1	Myocardial infarction, Increased red blood cell mass, Hypertension, Increased circulating hemoglo...	OMIM:133100
Pseudohypoparathyroidism, Type Ic	Hypocalcemia, Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism	OMIM:612462
Mast Cell Sarcoma	Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly	ORPHA:66661
Coproporphyria, Hereditary	Jaundice, Hepatomegaly, Hypertension, Splenomegaly, Tachycardia	OMIM:121300
Congenital Disorder Of Glycosylation, Type Iio	Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con...	OMIM:616828
Anemia, Sideroblastic, 5	Reduced hematocrit, Hypochromic microcytic anemia, Anemia, Thrombocytopenia, Neutropenia	OMIM:619523
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona...	OMIM:214900
Pyruvate Kinase Deficiency Of Red Cells	Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat...	OMIM:266200
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Increased mean corpuscular volume, Thrombocytopenia, Acute myeloid leukemia	OMIM:252270
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Neutropenia in presence o...	OMIM:619220
Alpha-Thalassemia	Anisopoikilocytosis, Hemoglobin Barts, Congestive heart failure, Jaundice, Anemia, Cholelithiasis...	ORPHA:846
Fetal Cytomegalovirus Syndrome	Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Retinal ...	ORPHA:294
Galactose Epimerase Deficiency	Jaundice, Splenomegaly, Hepatomegaly	ORPHA:79238
Osteopetrosis, Autosomal Recessive 4	Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly	OMIM:611490
Hypotonia-Cystinuria Syndrome	Hypocalcemia, Hypergonadotropic hypogonadism	OMIM:606407
Aggressive Systemic Mastocytosis	Decreased liver function, Gastrointestinal hemorrhage, Anemia, Lymphadenopathy, Increased proport...	ORPHA:98850
Thrombocytopenia 5	Anemia, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Thrombocytopenia, Epis...	OMIM:616216
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Anemia, Leukemia, Neutropenia	OMIM:614082
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Nodular r...	OMIM:620367
Deafness-Lymphedema-Leukemia Syndrome	Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso...	ORPHA:3226
Von Willebrand Disease, Platelet-Type	Intermittent thrombocytopenia	OMIM:177820
Gracile Bone Dysplasia	Hypocalcemia, Hypoplastic spleen, Asplenia	OMIM:602361
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms	OMIM:614874
Primary Intestinal Lymphangiectasia	Intestinal lymphangiectasia, Hypocalcemia, Hypoproteinemia, Abnormal lymphatic vessel morphology,...	ORPHA:90362
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Partial Androgen Insensitivity Syndrome	Blind vagina, Clitoral hypertrophy, Male infertility, Hypospadias, Azoospermia, Aplasia of the ut...	ORPHA:90797
Preeclampsia	Elevated circulating hepatic transaminase concentration, Elevated diastolic blood pressure, Eleva...	ORPHA:275555
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Genital ulcers, Thrombocytopenia, Hemolytic anemia, Lymphopenia	OMIM:616744
Bile Acid Synthesis Defect, Congenital, 3	Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating...	OMIM:613812
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Gastrointestinal hemorrhage, Abnormality of the lymphatic syst...	ORPHA:1414
Atrial Fibrillation, Familial, 11	Atrial fibrillation, Prolonged QRS complex, Reduced left ventricular ejection fraction, Prolonged...	OMIM:614049
Immunodeficiency 84	B lymphocytopenia, Splenomegaly	OMIM:619437
Immunodeficiency 32B	Hepatomegaly, Anemia, Monocytopenia, Neutrophilia, Thrombocytopenia, Splenomegaly, Eosinophilia, ...	OMIM:226990
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Anemia, Congenital Dyserythropoietic, Type Iv	Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten...	OMIM:613673
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Prolonged QT interval, Elevated circulating hepatic transaminase concentration, Hypertrophic card...	ORPHA:71212
Gaucher Disease Type 2	Hepatomegaly, Cardiac arrest, Splenomegaly	ORPHA:77260
Fetal Gaucher Disease	Hepatomegaly, Pancytopenia, Thrombocytopenia, Abnormality of the spleen, Splenomegaly, Intracrani...	ORPHA:85212
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency	Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired...	OMIM:613470
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Lymphadenopathy, B lymphocytopenia, Splenomegaly, Intermittent thrombocytopenia, Abnormal CD4:CD8...	OMIM:150550
Neonatal Severe Primary Hyperparathyroidism	Hepatomegaly, Splenomegaly	ORPHA:417
Beta-Thalassemia Intermedia	Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ...	ORPHA:231222
Autoimmune Lymphoproliferative Syndrome	Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant...	OMIM:601859
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly	ORPHA:1046
Amed Syndrome, Digenic	Anemia, Acute myeloid leukemia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia, Hypopl...	OMIM:619151
Mu-Heavy Chain Disease	Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count	ORPHA:100024
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Cardiomyopathy, Thrombocytopenia	ORPHA:67048
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Impaired colla...	OMIM:139090
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Abnormality of thrombocytes, ...	OMIM:612840
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Increased mean platelet volume, Thrombocytopenia, Iron deficiency anemia, Neutropenia	ORPHA:494444
Beemer-Ertbruggen Syndrome	Ambiguous genitalia, Cryptorchidism, Thrombocytopenia	ORPHA:1237
Congenital Disorder Of Glycosylation, Type Iik	Hepatomegaly, Thrombocytopenia, Elevated circulating alanine aminotransferase concentration, Elev...	OMIM:614727
Atrial Standstill	Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection...	ORPHA:1344
Rhabdoid Tumor	Anemia, Lymphadenopathy, Hypertension, Internal hemorrhage, Thrombocytopenia, Neoplasm of the liver	ORPHA:69077
Isolated Thyroid-Stimulating Hormone Deficiency	Bradycardia, Pituitary hypothyroidism, Thyroid hypoplasia, Prolonged neonatal jaundice, Goiter, I...	ORPHA:90674
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia	ORPHA:3327
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Premature pubarche, Elevated circulating hepatic transaminase concentration, Prolonged QTc interv...	OMIM:616878
Pseudohypoparathyroidism Type 1B	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:94089
Galactosemia Iii	Jaundice, Splenomegaly, Hepatomegaly	OMIM:230350
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Hyperparathyroidism 1	Hypercalcemia	OMIM:145000
Omenn Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp...	OMIM:603554
Atypical Hemolytic Uremic Syndrome	Thrombocytopenia, Microangiopathic hemolytic anemia	ORPHA:2134
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia	ORPHA:557003
Immunodeficiency 76	Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Splenomegaly, Lymphopenia	OMIM:619164
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morpholog...	ORPHA:100026
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Amegakaryocytic Thrombocytopenia, Congenital, 2	Aplastic anemia, Anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	OMIM:620481
Ataxia-Pancytopenia Syndrome	Anemia, Pancytopenia, Thrombocytopenia, Acute myelomonocytic leukemia, Hypoplastic anemia, Neutro...	OMIM:159550
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ...	OMIM:301078
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Hepatocellular carcinoma, Elevated circulating hepatic transaminase concentration, Spl...	OMIM:613490
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Incr...	OMIM:153670
Wilson Disease	Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio...	ORPHA:905
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure	OMIM:616719
Immunodeficiency 32A	Lymphadenitis, Lymphadenopathy	OMIM:614893
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:86893
Amyloidosis, Familial Visceral	Hypertension, Hepatomegaly, Cholestasis, Splenomegaly	OMIM:105200
Dehydrated Hereditary Stomatocytosis	Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased...	ORPHA:3202
Wolff-Parkinson-White Syndrome	Paroxysmal atrial fibrillation, Wolff-Parkinson-White syndrome, Atrial flutter, Syncope, Ventricu...	OMIM:194200
Aromatase Deficiency	Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hypogonadism, Female...	ORPHA:91
Laryngeal Neuroendocrine Tumor	Elevated circulating carcinoembryonic antigen concentration, Chronic noninfectious lymphadenopathy	ORPHA:100083
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr...	OMIM:194380
Thrombotic Thrombocytopenic Purpura	Reticulocytosis, Arrhythmia, Thrombocytopenia, Microangiopathic hemolytic anemia, Myocardial infa...	ORPHA:54057
Ring Chromosome 10 Syndrome	Hypocalcemia	ORPHA:1438
Autoimmune Lymphoproliferative Syndrome, Type Iii	Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Decrease...	OMIM:615559
Attrv122I Amyloidosis	Abnormal atrioventricular conduction, Congestive heart failure, Anemia, Reduced left ventricular ...	ORPHA:85451
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Overhydrated Hereditary Stomatocytosis	Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno...	ORPHA:3203
Fanconi Anemia, Complementation Group T	Anemia, Acute myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia	OMIM:616435
Osteopetrosis, Autosomal Dominant 3	Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism	OMIM:618107
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Abnormal spermatogenesis, Abnormali...	OMIM:228300
Gaucher Disease Type 1	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Biliary tract obstruction, Splenic...	ORPHA:77259
Thiamine-Responsive Megaloblastic Anemia Syndrome	Congestive heart failure, Megaloblastic anemia, Cardiac arrest, Paroxysmal atrial tachycardia, Th...	ORPHA:49827
Ataxia-Pancytopenia Syndrome	Pancytopenia, Abnormal macrophage morphology, Abnormal platelet function, Splenomegaly, Acute mye...	ORPHA:2585
Oculoskeletodental Syndrome	Hypocalcemia, Hypercalcemia, Splenomegaly	OMIM:618440
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Mediastinal lymphadenopathy, Lymphadenopathy, Decreased proportion of CD4-positive helper T cells...	OMIM:300853
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t...	OMIM:615513
Wiskott-Aldrich Syndrome 2	Thrombocytopenia, Decreased proportion of CD8-positive T cells	OMIM:614493
Vitamin B12-Unresponsive Methylmalonic Acidemia	Hepatomegaly, Pancreatitis, Anemia, Macrocytic anemia, Cardiomyopathy, Leukopenia, Thrombocytopenia	ORPHA:27
Cernunnos-Xlf Deficiency	Anemia, B lymphocytopenia, T lymphocytopenia, Thrombocytopenia, Lymphopenia	ORPHA:169079
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Hypocalcemia, Pancreatic lymphangiectasis, Hypoproteinemia, Splenomegaly, Pulmonary lymphangiecta...	OMIM:235255
Autoinflammation With Infantile Enterocolitis	Anemia, Pancytopenia, Thrombocytopenia, Splenomegaly, Diffuse alveolar hemorrhage, Reduced natura...	OMIM:616050
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, Thrombocytopenia, Supravalvular aortic ste...	OMIM:618624
Caroli Syndrome	Hematemesis, Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Pancreatitis, Hepatomega...	ORPHA:480520
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin	ORPHA:163596
Immunodeficiency 114, Folate-Responsive	Hepatomegaly, Megaloblastic anemia, Thrombocytopenia, Splenomegaly, Lymphopenia	OMIM:620603
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Ghosal Hematodiaphyseal Dysplasia	Anemia, Splenomegaly	ORPHA:1802
Malaria	Thrombocytopenia, Anemia	ORPHA:673
Short Qt Syndrome 3	Tachycardia, Palpitations, Shortened QT interval	OMIM:609622
Immunodeficiency 64 With Lymphoproliferation	Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat...	OMIM:618534
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5	Presyncope, Congestive heart failure, Right ventricular cardiomyopathy, Palpitations, Premature v...	OMIM:604400
Congenital Disorder Of Glycosylation, Type Ih	Decreased liver function, Hepatomegaly, Anemia, Cholestasis, Ascites, Thrombocytopenia, Cryptorch...	OMIM:608104
Ciliary Dyskinesia, Primary, 14	Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil...	OMIM:613807
Immunodeficiency 48	Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ...	OMIM:269840
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, Splenomegal...	OMIM:619375
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Brugada Syndrome 4	Syncope, Shortened QT interval, Atrial fibrillation	OMIM:611876
Griscelli Syndrome	Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno...	ORPHA:381
Overhydrated Hereditary Stomatocytosis	Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja...	OMIM:185000
Muscular Dystrophy, Becker Type	Cardiomyopathy, Abnormal EKG, Arrhythmia	OMIM:300376
Simpson-Golabi-Behmel Syndrome	Hepatomegaly, Prolonged QT interval, Hypospadias, Hypoplasia of penis, Cardiomyopathy, Cryptorchi...	ORPHA:373
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Lymphadenopathy	OMIM:618261
Transcobalamin Deficiency	Neutropenia, Lymphopenia, Thrombocytopenia, Pancytopenia	ORPHA:859
Mirage Syndrome	Anemia, Hypospadias, Hypergonadotropic hypogonadism, Decreased testicular size, Microphallus, Hyp...	OMIM:617053
Idiopathic Aplastic Anemia	Anemia, Pancytopenia, Reticulocytopenia, Retinal hemorrhage, Bone marrow hypocellularity, Thrombo...	ORPHA:88
Cardiomyopathy, Familial Hypertrophic, 8	Congestive heart failure, Reduced left ventricular ejection fraction, Palpitations, Restrictive c...	OMIM:608751
Nathalie Syndrome	Abnormal EKG	OMIM:255990
Cardiomyopathy, Familial Hypertrophic, 6	Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril...	OMIM:600858
Immunodeficiency 27A	Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Enlarged...	OMIM:209950
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Thrombocytopenia, Pulmonary arterial hypertension	OMIM:619751
Essential Thrombocythemia	Acute leukemia, Transient ischemic attack, Leukocytosis, Abnormality of thrombocytes, Abnormal pl...	ORPHA:3318
Cholestasis, Progressive Familial Intrahepatic, 1	Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic...	OMIM:211600
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Lymphade...	OMIM:619644
Myh9-Related Disease	Myocardial infarction, Neutrophil inclusion bodies, Elevated circulating hepatic transaminase con...	ORPHA:182050
Fish-Eye Disease	Angina pectoris, Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:79292
Thyrocerebroretinal Syndrome	Goiter, Thrombocytopenia	OMIM:274240
Macrophage Activation Syndrome	Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co...	ORPHA:158061
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Right ventricular cardiomyopathy, Ventricular arrhythmia, Ventricular tachycardia, Prolonged QRS ...	OMIM:611528
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ...	OMIM:619802
Cholesteryl Ester Storage Disease	Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Hepatic failure	ORPHA:75234
Slc35A1-Cdg	Giant platelets, Abnormal platelet granules, Thrombocytopenia, Pulmonary hemorrhage, Neutropenia	ORPHA:238459
Moyamoya Disease 6 With Or Without Achalasia	Ischemic stroke, Hypertension, Thrombocytopenia, Raynaud phenomenon	OMIM:615750
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Anemia, Increased mean corpuscular volume, Hypertension, Ascites, Pulmo...	OMIM:617021
Immunodeficiency 103, Susceptibility To Fungal Infections	Decreased circulating iron concentration, Lymphadenopathy	OMIM:212050
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypocalcemia, Hypomagnesemia, Hypokalemia	OMIM:175500
Schnitzler Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Vasculitis, Leukocytosis, Splenomegaly	ORPHA:37748
Tularemia	Cervical lymphadenopathy, Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Leukocytosis, Thr...	ORPHA:3392
Lead Poisoning	Decreased male libido, Infertility, Oligozoospermia, Reduced sperm motility, Abnormality of the m...	ORPHA:330015
Folate Malabsorption, Hereditary	Folate-responsive megaloblastic anemia, Thrombocytopenia, Leukopenia, Neutropenia	OMIM:229050
Andersen Cardiodysrhythmic Periodic Paralysis	Prolonged QT interval, Prominent U wave, Prolonged QTc interval, Syncope, Palpitations, Bidirecti...	OMIM:170390
Congenital Pulmonary Lymphangiectasia	Congestive heart failure, Hepatomegaly, Ascites, Pulmonary arterial hypertension, Tricuspid regur...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 10	Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri...	OMIM:608758
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Macroorchidism	OMIM:618874
B-Cell Expansion With Nfkb And T-Cell Anergy	Increased B cell count, Splenomegaly	OMIM:616452
X-Linked Sideroblastic Anemia	Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly	ORPHA:75563
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:97290
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur...	OMIM:610193
Thymic Neuroendocrine Tumor	Neoplasm of the thymus, Hypercalcemia, Mediastinal lymphadenopathy, Chronic noninfectious lymphad...	ORPHA:97289
Familial Isolated Hypoparathyroidism	Hypocalcemia	ORPHA:2238
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome	Arrhythmia, Elevated circulating hepatic transaminase concentration, Prolonged QT interval, Abnor...	ORPHA:480864
Tafro Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Ascites, Thrombocytopenia, Splenomegaly, Hep...	ORPHA:457077
Spherocytosis, Type 4	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia	OMIM:612653
Pediatric-Onset Graves Disease	Congestive heart failure, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	ORPHA:525731
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Albers-Schönberg Osteopetrosis	Hypocalcemia	ORPHA:53
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Testicular Germ Cell Tumor	Azoospermia	OMIM:273300
Congenital Rubella Syndrome	Jaundice, Anemia, Hepatomegaly, Thrombocytopenia, Splenomegaly	ORPHA:290
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Hepatomegaly, Pancreatitis, Anemia, Thrombocytopenia, Neutropenia	ORPHA:289916
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hypocalcemia, Hyperphosphatemia, Hypocalcemic seizures	OMIM:241410
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Hypocalcemia, Hypoproteinemia, Pancreatic lymphangiectasis, Hepatosplenomegaly, Splenomegaly, Pul...	ORPHA:1655
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Chronic noninfectious lymphadenopathy	ORPHA:319487
Tropical Endomyocardial Fibrosis	P pulmonale, Abnormal ST segment, Ascites, Splenomegaly, Prolonged QRS complex, Cardiomegaly, Pul...	ORPHA:75565
Glycogen Storage Disease Ixc	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat...	OMIM:613027
Cog4-Cdg	Cirrhosis, Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Hepatosplen...	ORPHA:263501
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Impaired platelet aggregation, Poikilocytosis, Bone marrow hypocellularity, El...	OMIM:300835
Kenny-Caffey Syndrome, Type 1	Hypocalcemia, Hypomagnesemia	OMIM:244460
Sickle Cell Disease	Jaundice, Hepatomegaly, Cholelithiasis, Hypertension, Splenic infarction, Leukocytosis, Target ce...	OMIM:603903
Genetic Recurrent Myoglobinuria	Hypocalcemia, Hyperphosphatemia, Highly elevated creatine kinase, Hyperkalemia	ORPHA:99845
Spherocytosis, Type 2	Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia	OMIM:616649
Osteopetrosis, Autosomal Recessive 1	Hypocalcemia, Splenomegaly	OMIM:259700
Trisomy 20P	Cryptorchidism, Hypospadias, Macroorchidism	ORPHA:261318
Lymphoproliferative Syndrome, X-Linked, 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Hepatitis	OMIM:300635
46,Xy Sex Reversal 10	Gonadal dysgenesis, Ovotestis, Hypospadias, Perineal hypospadias, Bifid scrotum, Decreased testic...	OMIM:616425
Immunodeficiency With Hyper-Igm, Type 5	Lymphadenopathy	OMIM:608106
Isolated Agammaglobulinemia	Anemia, Abnormality of the tonsils, Abnormality of the lymphatic system, Abnormal lymphocyte morp...	ORPHA:229717
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro...	OMIM:251880
Double Outlet Right Ventricle	Aplasia/Hypoplasia of the thymus, Hypocalcemia	ORPHA:3426
Exercise-Induced Malignant Hyperthermia	Decreased liver function, Abnormal T-wave, Prolonged QT interval, Sinus tachycardia, Abnormal pul...	ORPHA:466650
Gitelman Syndrome	Neoplasm of the pancreas, Prolonged QT interval, Iron deficiency anemia, Prominent U wave, Low-to...	ORPHA:358
Bone Marrow Failure Syndrome 4	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Leukopenia	OMIM:618116
Colchicine Poisoning	Hypokalemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypophosphatemia, Abnormal blood ion con...	ORPHA:31824
Prolidase Deficiency	Hepatomegaly, Anemia, Diffuse telangiectasia, Prolonged neonatal jaundice, Thrombocytopenia, Sple...	OMIM:170100
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Anemia, Abnormality of the lymphatic system, Abnormal splee...	ORPHA:464329
Isovaleric Acidemia	Cerebellar hemorrhage, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Leukopenia	OMIM:243500
Hyperparathyroidism 4	Hypercalcemia	OMIM:617343
Sengers Syndrome	Cardiac arrest, Hypertrophic cardiomyopathy, Pulmonary arterial hypertension, Thrombocytopenia, S...	OMIM:212350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Macroorchidism	OMIM:309520
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypophosphatemia, Hypocalcemic seizures, Splenomegaly	ORPHA:289157
Parathyroid Carcinoma	Hypercalcemia	OMIM:608266
Cryohydrocytosis	Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:185020
Snakebite Envenomation	Tachycardia, Hypotension, Cerebral ischemia, Cardiogenic shock, Epistaxis, Thrombocytopenia, Intr...	ORPHA:449285
Immunodeficiency 109 With Lymphoproliferation	Absent circulating B cells, Generalized lymphadenopathy, Splenomegaly, Pancytopenia	OMIM:620282
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Macrothrombocytopenia, Impaired platelet aggregation	OMIM:613112
Glut1 Deficiency Syndrome 2	Splenomegaly, Hemolytic anemia, Reticulocytosis	OMIM:612126
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Lymphadenopathy, Hypocalcemia, Decreased circulating prealbumin concentration, Hypomagnesemia, Sp...	ORPHA:37042
46,Xy Partial Gonadal Dysgenesis	Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitoral hypertrophy, A...	ORPHA:251510
Nephrotic Syndrome, Type 7	Thrombocytopenia, Hemolytic anemia	OMIM:615008
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Jaundice, Hepatomegaly, Anemia, Abnormal natural killer cell count, Pancytopenia, Elevated circul...	ORPHA:79124
Boutonneuse Fever	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Thrombocyto...	ORPHA:83313
Relapsing Fever	Jaundice, Anemia, Elevated circulating hepatic transaminase concentration, Leukocytosis, Hypotens...	ORPHA:91547
Cocaine Intoxication	Ischemic stroke, Prolonged QT interval, Supraventricular arrhythmia, Hypertension, Hypotension, H...	ORPHA:90068
Immunodeficiency 47	Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati...	OMIM:300972
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Hepatomegaly, Jaundice, Pancytopenia, Increased mean corpuscular volume, Megaloblastic anemia, Th...	OMIM:613839
Maternal Uniparental Disomy Of Chromosome 6	Clitoral hypertrophy, Congenital adrenal hyperplasia, Thrombocytopenia, Hydrocele testis	ORPHA:96181
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Hepatosplenomegaly, Lymphadenopathy	OMIM:618982
Dengue Fever	Gastrointestinal hemorrhage, Hepatomegaly, Ascites, Hypotension, Thrombocytopenia, Leukopenia, Ep...	ORPHA:99828
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic l...	ORPHA:98849
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Genital ulcers, Hepatomegaly, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, Lymph node ...	OMIM:602450
Harderoporphyria	Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia	OMIM:618892
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Normochromic anemia, Pulmonary arterial hypertension, Thrombocytopenia, Cryptorchidism, Neutropenia	OMIM:614857
Immunodeficiency 54	Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Reduced natural ...	OMIM:609981
Cystic Echinococcosis	Cholestatic liver disease, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conc...	ORPHA:400
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Aortic regurgitation, Thrombocytopenia, Macrothrombocytopenia...	OMIM:603585
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome	Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly	ORPHA:59303
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Hepatomegaly, Anemia, Splenomegaly	OMIM:620296
Thrombocytopenia 2	Abnormal platelet shape, Thrombocytopenia, Leukocytosis, Abnormal platelet volume	OMIM:188000
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Gastr...	ORPHA:131
Immunodeficiency 46	Anemia, Intermittent thrombocytopenia, Neutropenia	OMIM:616740
Immune Dysregulation, Autoimmunity, And Autoinflammation	Abnormal circulating C-reactive protein concentration, Cervical lymphadenopathy, Inguinal lymphad...	OMIM:620514
Lymphoproliferative Syndrome 2	Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Hepatosp...	OMIM:615122
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Anemia, Erythroid hypoplasia, Hypoplasia of the thymus, Pulmonary arterial hyperten...	OMIM:612541
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Autoimmune hemolytic anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio...	ORPHA:331206
Rosaï-Dorfman Disease	Lymphadenopathy	ORPHA:158014
Lig4 Syndrome	Pancytopenia, Acute lymphoblastic leukemia, Thrombocytopenia, Cryptorchidism, Micropenis, Telangi...	OMIM:606593
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Quebec Platelet Disorder	Joint hemorrhage, Thrombocytopenia, Epistaxis, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Mitochondrial Complex I Deficiency, Nuclear Type 20	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Microvesicular...	OMIM:611126
Familial Cold Autoinflammatory Syndrome 2	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	OMIM:611762
Anemia, Congenital Dyserythropoietic, Type Ia	Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R...	OMIM:224120
Felty Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymphocyte morphology, Bone marrow hypocellularit...	ORPHA:47612
Immunodeficiency With Hyper-Igm, Type 3	Absence of lymph node germinal center	OMIM:606843
Indolent Systemic Mastocytosis	Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega...	ORPHA:98848
Hurler-Scheie Syndrome	Abnormality of the tonsils, Hepatomegaly, Cardiomyopathy, Splenomegaly	ORPHA:93476
Dominant Beta-Thalassemia	Cirrhosis, Jaundice, Hypochromic microcytic anemia, Hypoparathyroidism, Decreased mean corpuscula...	ORPHA:231226
Cholestasis, Progressive Familial Intrahepatic, 2	Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic...	OMIM:601847
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Lymphadenopathy, Decreased FOXP3-expressing T cell count, Thrombocytopenia, Coombs-positi...	OMIM:304790
Ethylene Glycol Poisoning	Congestive heart failure, Prolonged QT interval, Atrial fibrillation, Hypertension, Hypotension, ...	ORPHA:31826
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Muscular Dystrophy, Cardiac Type	Cardiomyopathy, Abnormal EKG	OMIM:309930
Griscelli Syndrome Type 2	Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia	ORPHA:79477
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility	OMIM:614935
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Hypokalemia, Hypocalcemia, Hyponatremia, Splenomegaly	OMIM:617913
Caroli Disease	Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a...	ORPHA:53035
Carney Complex	Ductal carcinoma in situ, Neoplasm of the pancreas, Hypertension, Pituitary growth hormone cell a...	ORPHA:1359
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Immunodeficiency With Hyper-Igm, Type 1	Cirrhosis, Hepatomegaly, Sclerosing cholangitis, Chronic hepatitis, Enlarged tonsils, Thrombocyto...	OMIM:308230
Stormorken Syndrome	Anemia, Howell-Jolly bodies, Asplenia, Hypoplastic spleen, Thrombocytopenia, Epistaxis, Subarachn...	OMIM:185070
Drug-Induced Autoimmune Hemolytic Anemia	Autoimmune hemolytic anemia, Congestive heart failure, Splenomegaly, Tachycardia	ORPHA:90037
Rett Syndrome	Prolonged QTc interval, Abnormal T-wave	OMIM:312750
Glycogen Storage Disease Ixb	Hepatomegaly, Splenomegaly, Increased hepatic glycogen content	OMIM:261750
Pfapa Syndrome	Splenomegaly, Hepatomegaly, Lymphadenopathy	ORPHA:42642
Dahlberg-Borer-Newcomer Syndrome	Hypocalcemia	ORPHA:1563
Letterer-Siwe Disease	Jaundice, Anemia, Thrombocytopenia, Hepatosplenomegaly, Neutropenia	OMIM:246400
Wolfram Syndrome 1	Megaloblastic anemia, Cardiomyopathy, Sideroblastic anemia, Thrombocytopenia, Testicular atrophy	OMIM:222300
Complete Androgen Insensitivity Syndrome	Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Tes...	ORPHA:99429
Bile Acid Synthesis Defect, Congenital, 1	Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu...	OMIM:607765
Congenital Enterovirus Infection	Myocarditis, Anemia, Abnormal macrophage morphology, Cholestasis, Leukocytosis, Hepatic failure, ...	ORPHA:292
Pseudohypoparathyroidism Type 1C	Calcinosis, Hypocalcemic seizures, Hypocalcemia, Hypergonadotropic hypogonadism, Oligomenorrhea, ...	ORPHA:79444
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Anemia of inadequate production, Poikilocytosis, Epistaxis, Acanthocytosis, Congenital thrombocyt...	OMIM:300367
Bleeding Disorder, Platelet-Type, 17	Gastrointestinal hemorrhage, Impaired epinephrine-induced platelet aggregation, Absence of alpha ...	OMIM:187900
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Follicular hyperplasia, Lymphadenopathy	OMIM:619846
Brugada Syndrome 7	Paroxysmal atrial fibrillation, Atrial flutter, ST segment elevation, Permanent atrial fibrillati...	OMIM:613120
Cardiomyopathy, Dilated, 1Nn	Congestive heart failure, Reduced left ventricular ejection fraction, Abnormal ST segment, Ventri...	OMIM:615916
Fanconi Anemia, Complementation Group V	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:617243
Sitosterolemia 1	Chronic hemolytic anemia, Giant platelets, Anemia, Impaired platelet aggregation, Episodic hemoly...	OMIM:210250
Immunodeficiency 7	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Neut...	OMIM:615387
Generalized Pustular Psoriasis	Hypocalcemia, Hyponatremia, Hypoalbuminemia, Elevated circulating C-reactive protein concentration	ORPHA:247353
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Thrombocytopenia, Cerebral hemorrhage, Epistaxis, Hemorrhage of the eye	ORPHA:3002
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Anemia of inadequate production, Leukocytosis, Retinal hemorrhage, Bone m...	ORPHA:86839
Hereditary Spherocytosis	Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp...	ORPHA:822
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Decreased CD4:CD8 ratio	OMIM:618495
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Goiter, Thrombocytopenia, Leukocytosis, Cerebral vasculitis	ORPHA:83601
Immunodeficiency, Common Variable, 1	Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt...	OMIM:607594
Beta-Thalassemia Major	Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume, High-output con...	ORPHA:231214
Renal-Hepatic-Pancreatic Dysplasia 1	Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Enlarged kidney, Cholestasis, Biliary cirrhosis...	OMIM:208540
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Persistent fetal circulation, Cholelithiasis, Normochromic anemia, Bradycardia, Hypertrophic card...	OMIM:618775
Bleeding Disorder, Platelet-Type, 21	Impaired platelet aggregation, Increased mean platelet volume, Thrombocytopenia, Impaired ADP-ind...	OMIM:617443
Symptomatic Form Of Hfe-Related Hemochromatosis	Congestive heart failure, Cirrhosis, Hepatomegaly, Elevated jugular venous pressure, Hepatocellul...	ORPHA:465508
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Imerslund-Gräsbeck Syndrome	Anisopoikilocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Abnormal hemoglobin c...	ORPHA:35858
46,Xx Sex Reversal 2	Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, True hermaphroditis...	OMIM:278850
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Hemophagocytosis, An...	ORPHA:540
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval	OMIM:300352
Cholera	Abnormal blood ion concentration, Hyponatremia, Hypokalemia, Hypocalcemia	ORPHA:173
Elliptocytosis 1	Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia	OMIM:611804
Neuroleptic Malignant Syndrome	Hyperkalemia, Hyperuricemia, Hypocalcemia, Elevated circulating creatine kinase concentration, Hy...	ORPHA:94093
Combined Immunodeficiency Due To Partial Rag1 Deficiency	Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope...	ORPHA:231154
Propionic Acidemia	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Anemia, Pancytopenia, Cardiomyopathy, Thromboc...	OMIM:606054
Bile Acid Synthesis Defect, Congenital, 2	Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa...	OMIM:235555
Celiac Disease, Susceptibility To, 1	Hypocalcemia, Infertility	OMIM:212750
Cardiomyopathy, Familial Hypertrophic, 13	Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ...	OMIM:613243
Congenital Disorder Of Glycosylation, Type Ig	Hypocalcemia	OMIM:607143
Diarrhea 10, Protein-Losing Enteropathy Type	Hypertriglyceridemia, Hypocalcemia, Hyponatremia, Hypomagnesemia, Hypoalbuminemia	OMIM:618183
Typhoid	Gastrointestinal hemorrhage, Hepatomegaly, Cardiac arrest, Epistaxis, Splenomegaly, Arrhythmia	ORPHA:99745
Chediak-Higashi Syndrome	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Lymphadenopathy, Spontaneous, recurrent epistax...	OMIM:214500
Complete Atrioventricular Septal Defect	Elevated pulmonary artery pressure, Congestive heart failure, Hepatomegaly, Third heart sound, Ta...	ORPHA:1329
Autoinflammatory Disease, Systemic, With Vasculitis	Small vessel vasculitis, Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increas...	OMIM:620376
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal...	OMIM:607626
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Immunodeficiency, Common Variable, 2	Follicular hyperplasia, Lymphadenopathy, Splenomegaly	OMIM:240500
Osteopetrosis, Autosomal Recessive 5	Hypocalcemia, Hyperbilirubinemia, Hepatosplenomegaly, Splenomegaly	OMIM:259720
Pseudo-Torch Syndrome 3	Anemia, Hypertension, Lymphadenitis, Leukocytosis, Cerebral hemorrhage, Cardiomegaly, Congenital ...	OMIM:618886
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Hemolytic anemia	ORPHA:169090
Peripartum Cardiomyopathy	Myocarditis, Congestive heart failure, Left ventricular systolic dysfunction, Anemia, Left bundle...	ORPHA:563
Dextrocardia	Pancreatic hypoplasia, Abnormality of abdominal situs, Abnormality of the spleen, T-wave inversio...	ORPHA:1666
Ghosal Hematodiaphyseal Dysplasia	Bone marrow hypocellularity, Refractory anemia, Thrombocytopenia, Leukopenia	OMIM:231095
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome	Splenomegaly, Pancytopenia	OMIM:614979
Aregenerative Anemia	Erythroid hypoplasia, Lymphadenopathy, Pancytopenia, Abnormal proportion of CD8-positive T cells,...	ORPHA:101096
Systemic Lupus Erythematosus	Pericarditis, Thrombocytopenia, Leukopenia, Hemolytic anemia	OMIM:152700
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy	OMIM:618987
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol...	OMIM:300908
Cardiogenic Shock	Congestive heart failure, Hepatomegaly, Abnormal left ventricular function, Low-output congestive...	ORPHA:97292
Classic Galactosemia	Premature ovarian insufficiency, Male infertility, Secondary amenorrhea, Oligomenorrhea, Primary ...	ORPHA:79239
Thyrotoxic Periodic Paralysis	Prolonged QT interval, Ventricular fibrillation, Palpitations, Shortened PR interval, Second degr...	ORPHA:79102
Hemophagocytic Lymphohistiocytosis, Familial, 2	Jaundice, Hepatomegaly, Hemophagocytosis, Anemia, Pancytopenia, Lymphadenopathy, Elevated circula...	OMIM:603553
Blue Rubber Bleb Nevus	Abnormality of the liver, Thrombocytopenia, Iron deficiency anemia, Intestinal bleeding	OMIM:112200
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hypospadias, Abnormal left...	OMIM:301056
Sanjad-Sakati Syndrome	Hypocalcemia, Hyperphosphatemia	ORPHA:2323
Cold Agglutinin Disease	Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia	ORPHA:56425
Hennekam Syndrome	Lymphadenopathy, Hypocalcemia, Lymphangioma, Splenomegaly, Pulmonary lymphangiectasia	ORPHA:2136
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis	Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen...	OMIM:612714
Ornithine Transcarbamylase Deficiency	Splenomegaly, Hepatic failure	ORPHA:664
Acquired Purpura Fulminans	Internal hemorrhage, Hepatic failure, Thrombocytopenia, Intracranial hemorrhage, Shock	ORPHA:49566
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, C...	OMIM:614576
49,Xxxyy Syndrome	External genital hypoplasia, Abnormality of the testis size, Decreased testicular size, Ambiguous...	ORPHA:261534
Wolman Disease	Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Splenomegaly, Hepatic failure	ORPHA:75233
Hermansky-Pudlak Syndrome 9	Thrombocytopenia, Leukopenia, Abnormal platelet aggregation	OMIM:614171
Pseudohypoparathyroidism Type 1A	Decreased response to growth hormone stimulation test, Prolonged QT interval, Reduced circulating...	ORPHA:79443
Parenteral Nutrition-Associated Cholestasis	Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole...	ORPHA:567983
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Pseudo-Torch Syndrome 1	Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase conce...	OMIM:251290
Immunodeficiency With Hyper-Igm, Type 4	Absence of lymph node germinal center	OMIM:608184
Gitelman Syndrome	Palpitations, Prolonged QT interval, Hypotension, Ventricular tachycardia	OMIM:263800
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Cardiac arrest, Premature ventricul...	OMIM:609040
Cyclic Neutropenia	Lymphadenopathy, Recurrent tonsillitis, Decreased eosinophil count, Thrombocytopenia, Peritonitis...	ORPHA:2686
Acyl-Coa Dehydrogenase 9 Deficiency	Congestive heart failure, Cerebellar hemorrhage, Elevated circulating hepatic transaminase concen...	ORPHA:99901
Coronary Arterial Fistula	Congestive heart failure, Tachycardia, Angina pectoris, Elevated jugular venous pressure, Syncope...	ORPHA:2041
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Pulmonary arterial hypertension	OMIM:620029
Crimean-Congo Hemorrhagic Fever	Hematemesis, Bradycardia, Hypertension, Ascites, Leukopenia, Splenomegaly, Epistaxis, Diffuse alv...	ORPHA:99827
Immunodeficiency 40	Hepatomegaly, Macrovesicular hepatic steatosis, Elevated circulating alanine aminotransferase con...	OMIM:616433
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T...	OMIM:617591
Juvenile Nephropathic Cystinosis	Hypokalemia, Hypocalcemia, Hypouricemia, Hyponatremia, Hypophosphatemia, Hypocalcemic tetany, Ele...	ORPHA:411634
Pseudo-Torch Syndrome 2	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bradycardia, Ascites, Thro...	OMIM:617397
Caspase 8 Deficiency	Splenomegaly, Lymphadenopathy	OMIM:607271
Dyskeratosis Congenita, Autosomal Dominant 3	Aplastic anemia, Gastrointestinal hemorrhage, Anemia, Macrocytic anemia, Pancytopenia, Bone marro...	OMIM:613990
Macrocephaly/Autism Syndrome	Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis	OMIM:605309
Infantile Liver Failure Syndrome 3	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep...	OMIM:618641
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hypocalcemia	OMIM:618476
Wild Type Attr Amyloidosis	Congestive heart failure, Hepatomegaly, Bradycardia, Atrial fibrillation, Hypertrophic cardiomyop...	ORPHA:330001
Nephropathy-Deafness-Hyperparathyroidism Syndrome	Hypercalcemia	ORPHA:2668
Castleman Disease	Jaundice, Mediastinal lymphadenopathy, Anemia, Lymphadenopathy, Restrictive cardiomyopathy, Abdom...	ORPHA:160
Q Fever	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:781
Adams-Oliver Syndrome 6	Tricuspid regurgitation, Hepatic fibrosis, Splenomegaly, Portal hypertension	OMIM:616589
Osteopetrosis, Autosomal Recessive 2	Anemia, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly, Extramedullary hematopoiesis	OMIM:259710
Glycogen Storage Disease Ixa1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly	OMIM:306000
Autoimmune Hemolytic Anemia, Warm Type	Autoimmune hemolytic anemia, Congestive heart failure, Jaundice, Chronic lymphatic leukemia, Sple...	ORPHA:90033
American Trypanosomiasis	Myocarditis, Congestive heart failure, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegal...	ORPHA:3386
Schimke Immunoosseous Dysplasia	Abnormal T cell morphology, Anemia, Pancytopenia, Hypertension, Transient ischemic attack, Cerebr...	OMIM:242900
Hereditary Elliptocytosis	Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy...	ORPHA:288
Myelofibrosis	Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop...	OMIM:254450
Heme Oxygenase 1 Deficiency	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Asplenia, Increased circu...	OMIM:614034
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Thrombotic Thrombocytopenic Purpura, Hereditary	Jaundice, Transient ischemic attack, Reticulocytosis, Prolonged neonatal jaundice, Thrombocytopen...	OMIM:274150
Pparg-Related Familial Partial Lipodystrophy	Congestive heart failure, Cirrhosis, Hepatomegaly, Pancreatitis, Hypertension, Hypertrophic cardi...	ORPHA:79083
Dyskeratosis Congenita, Autosomal Dominant 2	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Leukopenia, Thrombocytopenia, Hepatic...	OMIM:613989
Small Cell Carcinoma Of The Bladder	Hypercalcemia	ORPHA:284400
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Leukopenia, Splenomegaly, Thro...	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 2	Lymphadenopathy, B lymphocytopenia, Thrombocytopenia, Decreased proportion of memory B cells, Inc...	OMIM:618048
Atelis Syndrome 1	Thrombocytopenia, Leukopenia, Anemia	OMIM:620184
Autosomal Recessive Polycystic Kidney Disease	Enlarged kidney, Jaundice, Gastrointestinal hemorrhage, Cholangitis, Periportal fibrosis, Hyperte...	ORPHA:731
Bacterial Toxic-Shock Syndrome	Hypocalcemia, Hypoalbuminemia, Elevated circulating creatinine concentration, Elevated circulatin...	ORPHA:36234
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cerebellar hemorrhage, Hepatomegaly, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Leukopenia, ...	OMIM:251000
Bone Marrow Failure Syndrome 3	Aplastic anemia, Hyperechogenic pancreas, Anemia, Acute myeloid leukemia, Pancytopenia, Increased...	OMIM:617052
Polycythemia Vera	Acute leukemia, Pulmonary embolism, Gastrointestinal hemorrhage, Hepatomegaly, Angina pectoris, H...	ORPHA:729
Mogs-Cdg	External genital hypoplasia, Hepatomegaly, Thrombocytopenia, Hepatosplenomegaly, Left ventricular...	ORPHA:79330
Dpagt1-Cdg	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Anemia, Prolonged QT inter...	ORPHA:86309
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria	Hypercalcemia	OMIM:239199
Pleural Mesothelioma	Lymphadenopathy	ORPHA:50251
Sepsis In Premature Infants	Decreased liver function, Jaundice, Anemia, Hepatomegaly, Bradycardia, Leukocytosis, Hypotension,...	ORPHA:90051
Classic Mycosis Fungoides	Lymphadenopathy, Splenomegaly	ORPHA:2584
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormality of the lymphatic system, Abnormal lymph node morphology, Elevated circulating C-react...	ORPHA:54251
Specific Granule Deficiency 2	Thrombocytopenia, Absent neutrophil specific granules, Anemia, Neutropenia	OMIM:617475
Thrombocytopenia 3	Decreased mean platelet volume, Thrombocytopenia, Epistaxis	OMIM:273900
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Parathyroid adenoma, Shortened QT...	ORPHA:99880
Fanconi Anemia, Complementation Group E	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto...	OMIM:600901
Turner Syndrome Due To Structural X Chromosome Anomalies	Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat...	ORPHA:99413
Mosaic Monosomy X	Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat...	ORPHA:99228
Monosomy X	Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat...	ORPHA:99226
Turner Syndrome	Cholestatic liver disease, Cirrhosis, Increased circulating gonadotropin level, Elevated circulat...	ORPHA:881
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
Short Fifth Metacarpals-Insulin Resistance Syndrome	Spherocytosis, Splenomegaly	ORPHA:66518
Immunodeficiency, Common Variable, 8, With Autoimmunity	Autoimmune hemolytic anemia, Lymphadenopathy, Pancytopenia, Decreased proportion of class-switche...	OMIM:614700
Autosomal Dominant Hypocalcemia	Hypocalcemia, Hyperphosphatemia, Hypomagnesemia	ORPHA:428
Mevalonic Aciduria	Fluctuating splenomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase conc...	OMIM:610377
Hereditary Amyloidosis With Primary Renal Involvement	Male infertility, Decreased HDL cholesterol concentration, Abnormal lymph node morphology, Lympha...	ORPHA:85450
Isolated Biliary Atresia	Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam...	ORPHA:30391
Acute Promyelocytic Leukemia	Anemia, Lymphadenopathy, Pancytopenia, Leukocytosis, Leukopenia, Thrombocytopenia, Epistaxis, Dif...	ORPHA:520
Pseudohypoparathyroidism, Type Ia	Hyperphosphatemia, Hypocalcemic tetany, Hypogonadism	OMIM:103580
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Abnormal dense granule content, Impaired platelet aggregation, Abnormal p...	OMIM:601399
Mucopolysaccharidosis-Plus Syndrome	Congestive heart failure, Enlarged kidney, Hepatomegaly, Macrovesicular hepatic steatosis, Anemia...	OMIM:617303
Aicardi-Goutieres Syndrome 1	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Vasculitis, Cardiomyopathy...	OMIM:225750
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal salivary gland morphology, Hepatomegaly, Anemia, Howell-Jol...	ORPHA:85443
Hypercalcemia, Infantile, 1	Hypercalcemia	OMIM:143880
Mitochondrial Trifunctional Protein Deficiency	Hypocalcemia	ORPHA:746
Smith-Kingsmore Syndrome	Cryptorchidism, Thrombocytopenia	OMIM:616638
Parathyroid Carcinoma	Parathyroid carcinoma, Pancreatitis, Testicular neoplasm, Primary hyperparathyroidism, Shortened ...	ORPHA:143
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevated circulating he...	ORPHA:264580
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absent tonsils, Absence of lymph node germinal center	ORPHA:277
Activated Pi3K-Delta Syndrome	Lymphadenopathy, Splenomegaly, Recurrent tonsillitis	ORPHA:397596
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Lymphadenopathy, Hypophosphatemia, Splenomegaly	ORPHA:667
Von Willebrand Disease	Gastrointestinal hemorrhage, Muscle hemorrhage, Abnormal platelet function, Joint hemorrhage, Thr...	ORPHA:903
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Cirrhosis, Anemia, Increased mean corpuscular volume, Budd-Chiari syndrome, Bone...	OMIM:127550
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Joint hemorrhage, Thrombocytopenia, Epistaxis	OMIM:277480
Familial Partial Lipodystrophy, Dunnigan Type	Congestive heart failure, Hepatomegaly, Pancreatitis, Hypertrophic cardiomyopathy, Splenomegaly, ...	ORPHA:2348
Pearson Syndrome	Hypokalemia, Hypocalcemia, Hyperalaninemia, Bone marrow hypocellularity, Hypoplastic spleen, Hypo...	ORPHA:699
Idiopathic Hypereosinophilic Syndrome	Portal fibrosis, Elevated circulating hepatic transaminase concentration, Splenomegaly, Cholangit...	ORPHA:3260
Autoimmune Hepatitis	Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Gastrointestinal he...	ORPHA:2137
Mcleod Syndrome	Hepatomegaly, Atrial fibrillation, Cardiomyopathy, Elevated circulating alanine aminotransferase ...	OMIM:300842
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Splenomegaly, Lymphadenopathy	ORPHA:391
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Kenny-Caffey Syndrome, Type 2	Hypocalcemia, Hyperphosphatemia, Transient hypophosphatemia	OMIM:127000
Aspartylglucosaminuria	Hepatomegaly, Splenomegaly, Macroorchidism	ORPHA:93
Aspartylglucosaminuria	Hepatomegaly, Vacuolated lymphocytes, Mitral regurgitation, Macroorchidism, Neutropenia	OMIM:208400
17Q24.2 Microdeletion Syndrome	Pulmonic stenosis, Prolonged QT interval, Pineal cyst	ORPHA:529962
Ivic Syndrome	Thrombocytopenia, Leukocytosis, Rectovaginal fistula, Arrhythmia	ORPHA:2307
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Enlarged kidney, Hepatomegaly, Periportal fibrosis, Hypertension, Portal hypertensio...	OMIM:263200
Pelger-Huet Anomaly	Giant platelets, Hyposegmentation of neutrophil nuclei, Thrombocytopenia, Abnormality of neutroph...	OMIM:169400
Congenital Left Ventricular Aneurysm	Congestive heart failure, Abnormal T-wave, Arrhythmia, Abnormal ST segment	ORPHA:1055
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Hepatomegaly, Mediastinal lymphadenopathy, Vasculitis, Viral hepatit...	ORPHA:91138
Cinca Syndrome	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:607115
Fanconi Anemia, Complementation Group A	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Thrombocytopenia, Crypto...	OMIM:227650
Testicular Agenesis	Hypoplasia of the uterus, Abnormal vas deferens morphology, Urogenital sinus anomaly, Urethrovagi...	ORPHA:325124
Hemophagocytic Syndrome Associated With An Infection	Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell count, Pancytopenia, Elevate...	ORPHA:158048
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Hepatomegaly, Impaired ADP-induced platelet aggregation, Hepatosp...	OMIM:608233
Immunodeficiency 105	Absence of lymph node germinal center, Hepatosplenomegaly	OMIM:619924
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Cholestatic liver disease, Giant cell hepatitis, Jaundice, Elevated circulating hepatic transamin...	OMIM:208085
Hypophosphatasia	Hypercalcemia	ORPHA:436
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Hypercalcemia	OMIM:614732
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Hepatosplenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Eleva...	OMIM:619750
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Blind vagina, Ambiguous genitalia, male, Female external genitalia in individual with 46,XY karyo...	ORPHA:90793
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Refractory sideroblastic anemia, Anemia, Elevated circulating hepatic transaminase ...	OMIM:557000
Catastrophic Antiphospholipid Syndrome	Myocarditis, Myocardial infarction, Angina pectoris, Transient ischemic attack, Pulmonary arteria...	ORPHA:464343
Dyskeratosis Congenita	Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro...	ORPHA:1775
Fanconi Anemia, Complementation Group F	Decreased response to growth hormone stimulation test, Anemia, Microphallus, Bone marrow hypocell...	OMIM:603467
Systemic-Onset Juvenile Idiopathic Arthritis	Splenomegaly, Lymphadenopathy, Elevated circulating C-reactive protein concentration	ORPHA:85414
Hyperparathyroidism, Neonatal Severe	Hypophosphatemia, Hypercalcemia, Splenomegaly, Calcinosis	OMIM:239200
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Lymphopenia, Autoimmune...	OMIM:616100
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Long penis, Testicular neoplasm, Neoplasm of the thymus, Enlar...	ORPHA:744
Tufted Angioma	Thrombocytopenia, Anemia	ORPHA:1063
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome	Hypocalcemia, Hypomagnesemia, Hypocalcemic tetany	ORPHA:73224
Atrial Septal Defect, Ostium Primum Type	Congestive heart failure, Atrial flutter, Right-to-left shunt, Third heart sound, Atrial fibrilla...	ORPHA:99106
Glycogen Storage Disease Xii	Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bisphosphate aldola...	OMIM:611881
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Elevated circulating hepatic transaminase concentration, Accessory spleen, Portal hyperte...	OMIM:620005
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Hepatomegaly, Decreased heart rate variability, Decreased hemoglobin concentration, Thrombocytope...	OMIM:619005
Necrotizing Enterocolitis	Shock, Bradycardia, Ascites, Leukocytosis, Hypotension, Thrombocytopenia, Peritonitis, Neutropenia	ORPHA:391673
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Decreased testicular size, Hepatomegaly, Splenomegaly, Hypogonadism	OMIM:201100
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Melena, Acute pancreatitis, Thrombocytopenia, Leukopenia, Lymphopeni...	ORPHA:319218
Fanconi Anemia, Complementation Group C	Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone marrow hypocellular...	OMIM:227645
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Abnormal EKG	OMIM:178650
Schimke Immuno-Osseous Dysplasia	Congestive heart failure, Ischemic stroke, Pancreatitis, Anemia, Abnormal proportion of naive CD4...	ORPHA:1830
Noonan Syndrome 4	Pulmonic stenosis, Cryptorchidism, Thrombocytopenia, Hypertrophic cardiomyopathy	OMIM:610733
Hardikar Syndrome	Decreased liver function, Hematemesis, Elevated circulating hepatic transaminase concentration, I...	OMIM:301068
Kikuchi-Fujimoto Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal lymph node morphology, Elevated circ...	ORPHA:50918
Cardiomyopathy, Familial Restrictive, 3	Reduced left ventricular ejection fraction, Abnormal ST segment, Restrictive cardiomyopathy, Hypo...	OMIM:612422
Roifman Syndrome	Lymphadenopathy, Hepatosplenomegaly, Hypogonadotropic hypogonadism	ORPHA:353298
Triosephosphate Isomerase Deficiency	Congestive heart failure, Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic ane...	OMIM:615512
Familial Thrombocytosis	Acute myeloid leukemia, Transient ischemic attack, Cerebral ischemia, Pulmonary arterial hyperten...	ORPHA:71493
Wiskott-Aldrich Syndrome	Hematemesis, Abnormal platelet function, Abnormal platelet morphology, Epistaxis, Hematochezia, L...	ORPHA:906
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612924
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Precocious puberty, Macroorchidism	OMIM:619950
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Congestive heart failure, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic tra...	OMIM:615895
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612926
Uremic Pruritus	Increased blood urea nitrogen, Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia	ORPHA:94059
Multiple Myeloma	Lymphadenopathy, Hypercalcemia, Splenomegaly, Hyperproteinemia, Elevated circulating creatinine c...	ORPHA:29073
Legionnaires Disease	Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Hypotension, Bone marrow hypocellularity, P...	ORPHA:549
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Non-Functioning Paraganglioma	Hypercalcemia	ORPHA:94080
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia	OMIM:618398
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Hepatosplenomegaly, Sp...	OMIM:618935
Good Syndrome	Mediastinal lymphadenopathy, Anemia, Abnormal leukocyte morphology, Thrombocytopenia, Thymoma, Ap...	ORPHA:169105
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphadenopathy, Lymphocytosis, Decreased mean platelet volume, Vasculitis, Vasculitis in the ski...	OMIM:617718
Methylmalonic Aciduria, Cblb Type	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Dilated cardiomyopathy, Neutropenia	OMIM:251110
T-Cell Immunodeficiency With Thymic Aplasia	Lymphadenopathy, Hypocalcemic tetany, Aplasia of the thymus	ORPHA:83471
Thrombocytopenia 10	Decreased mean platelet volume, Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:620484
Shwachman-Diamond Syndrome 2	Normocytic anemia, Hepatomegaly, Hyperechogenic pancreas, Exocrine pancreatic insufficiency, Thro...	OMIM:617941
Brucellosis	Myocarditis, Liver abscess, Anemia, Hepatomegaly, Lymphadenopathy, Arteritis, Transient ischemic ...	ORPHA:1304
Immunodeficiency 87 And Autoimmunity	Autoimmune hemolytic anemia, Jaundice, Hepatomegaly, Decreased CD4:CD8 ratio, Hypertension, Chole...	OMIM:619573
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia, Dilated cardiomyopathy, Cryptorchidism, Mitr...	ORPHA:261250
Hyperparathyroidism 2 With Jaw Tumors	Hypercalcemia	OMIM:145001
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Congestive heart failure, Anemia, B lymphocytopenia, Noncompaction cardiomyopathy, Reticulocytope...	ORPHA:508542
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematemesis, Gastrointestinal hemorrhage, Vitreous hemorrhage, Muscle hemorrhage, Melena, Ascites...	ORPHA:464321
Adams-Oliver Syndrome	Cirrhosis, Gastrointestinal hemorrhage, Ascites, Portal hypertension, Pulmonary arterial hyperten...	ORPHA:974
Cartilage-Hair Hypoplasia	Hypocalcemia	ORPHA:175
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency	Elevated creatine kinase after exercise, Hypercalcemia	ORPHA:284426
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytopenia, Leukopenia	OMIM:613845
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Thrombocytopenia, Epistaxis, Impaired ADP-induced platelet aggreg...	OMIM:614074
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Thrombocytopenia, Hypertension, Anemia, Microangiopathic hemolytic anemia	OMIM:612925
Thrombocytopenia 6	Spontaneous, recurrent epistaxis, Thrombocytopenia	OMIM:616937
Diffuse Alveolar Hemorrhage	Pulmonary venous hypertension, Thrombocytopenia, Anemia, Leukocytosis	ORPHA:90060
Congenital Disorder Of Glycosylation, Type Iig	Giant platelets, Anemia, Hypospadias, Thrombocytopenia, Left ventricular hypertrophy, Cryptorchidism	OMIM:611209
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Increased hepatic glycogen content, Elevated hepatic iron concentration, Copper accumulat...	OMIM:614946
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Platelet anisocytosis, Increased mean platelet volume, Ventricular arrhythmia, Thrombocytopenia	OMIM:620475
Common Variable Immunodeficiency	Elevated circulating hepatic transaminase concentration, Lymphadenopathy, Vasculitis, Splenomegal...	ORPHA:1572
Proteasome-Associated Autoinflammatory Syndrome 4	Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy	OMIM:619183
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Cardiomegaly, ...	OMIM:608013
Osteopetrosis With Renal Tubular Acidosis	Hypocalcemia, Bone marrow hypocellularity, Enlarged tonsils, Elevated circulating creatine kinase...	ORPHA:2785
Adult-Onset Still Disease	Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con...	ORPHA:829
Shwachman-Diamond Syndrome	Aplastic anemia, Elevated circulating hepatic transaminase concentration, Macrocytic anemia, Chro...	ORPHA:811
Hypomagnesemia 3, Renal	Hypocalcemic seizures, Increased circulating beta-C-terminal telopeptide concentration, Hyperuric...	OMIM:248250
Lathosterolosis	Anisopoikilocytosis, Intrahepatic cholestasis, Hepatomegaly, Hypoplasia of penis, Thrombocytopeni...	ORPHA:46059
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Pancreatitis, Anemia, Elevated circulating hepatic transaminase conc...	ORPHA:537
Meige Disease	Absence of lymph node germinal center, Lymph node hypoplasia	ORPHA:90186
Igg4-Related Thyroid Disease	Hypocalcemia	ORPHA:64744
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A...	ORPHA:86843
Hypocalciuric Hypercalcemia, Familial, Type I	Hypermagnesemia, Hypercalcemia	OMIM:145980
Fanconi Anemia, Complementation Group B	Aplastic anemia, Hypergonadotropic hypogonadism, Thrombocytopenia, Hypogonadism, Micropenis	OMIM:300514
Avian Influenza	Congestive heart failure, Elevated circulating hepatic transaminase concentration, Thrombocytopen...	ORPHA:454836
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Farber Disease	Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, Intrahepatic ch...	ORPHA:333
Dyskeratosis Congenita, Autosomal Recessive 1	Aplastic anemia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Hepatic fibrosis	OMIM:224230
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas...	ORPHA:79240
Purine Nucleoside Phosphorylase Deficiency	Hypouricemia, Increased circulating inosine concentration, Lymph node hypoplasia, Splenomegaly, I...	OMIM:613179
Shwachman-Diamond Syndrome 1	Hepatomegaly, Anemia, Acute myeloid leukemia, Elevated circulating hepatic transaminase concentra...	OMIM:260400
Primary Sclerosing Cholangitis	Elevated circulating hepatic transaminase concentration, Neoplasm of the gallbladder, Spider hema...	ORPHA:171
Atrial Fibrillation, Familial, 14	Paroxysmal atrial fibrillation, ST segment elevation, Hypertension, Prolonged PR interval	OMIM:615378
Porphyria, Congenital Erythropoietic	Jaundice, Hepatomegaly, Cholelithiasis, Thrombocytopenia, Splenomegaly, Reduced erythrocyte uropo...	OMIM:263700
Retinitis Pigmentosa And Erythrocytic Microcytosis	Anemia, Hypochromia, Poikilocytosis, Elliptocytosis, Anisocytosis, Leukopenia, Thrombocytopenia, ...	OMIM:616959
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, B lymphocytopenia, Increased proportion of transitional B cells, Decr...	OMIM:616005
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Portal vein thrombosis, Pulmonic stenosis, Splenomegaly, Right v...	OMIM:616028
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Bone marrow hypocellularity, Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes	Abnormal EKG	ORPHA:1177
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia	OMIM:300048
8P11.2 Deletion Syndrome	Hypoplasia of penis, Azoospermia, Spherocytosis, Splenomegaly, Hypogonadism, Cryptorchidism, Hypo...	ORPHA:251066
Fanconi Anemia, Complementation Group D2	Annular pancreas, Anemia, Pancytopenia, Reticulocytopenia, Hypergonadotropic hypogonadism, Bone m...	OMIM:227646
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Hypophosphatasia, Infantile	Hypercalcemia, Elevated plasma pyrophosphate	OMIM:241500
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal QRS complex, Congestive heart failure, Hepatomegaly, Abnormality of blood circulation, T...	ORPHA:860
Chédiak-Higashi Syndrome	Decreased liver function, Jaundice, Anemia, Hemophagocytosis, Increased proportion of CD25+ mast ...	ORPHA:167
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Splenomegaly, Leukocytosis	OMIM:618042
Hypocalciuric Hypercalcemia, Familial, Type Ii	Hypermagnesemia, Hypercalcemia	OMIM:145981
Thrombocytopenia 1	Decreased mean platelet volume, Joint hemorrhage, Epistaxis, Intermittent thrombocytopenia, Conge...	OMIM:313900
Overlap Myositis	Elevated circulating hepatic transaminase concentration, Hypertension, Pulmonary arterial hyperte...	ORPHA:206572
Acute Radiation Syndrome	Hypotension, Thrombocytopenia, Lymphopenia, Granulocytopenia, Telangiectasia	ORPHA:454831
Pediatric Systemic Lupus Erythematosus	Lymphadenopathy, Lymphopenia, Ascites, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Microang...	ORPHA:93552
Kasabach-Merritt Phenomenon	Hepatic hemangioma, Anemia, Abnormal lymphatic vessel morphology, Reticulocytosis, Leukopenia, Th...	ORPHA:2330
22Q11.2 Deletion Syndrome	Hypocalcemia, Abnormality of the tonsils, Hypoplasia of the thymus, Splenomegaly	ORPHA:567
Roifman Syndrome	Lymphadenopathy, Splenomegaly	OMIM:616651
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cardiomyopathy, Thrombocytopenia	OMIM:617710
Combined Immunodeficiency Due To Zap70 Deficiency	Lymphadenitis, Abnormal lymph node morphology, Hepatosplenomegaly, Lymphadenopathy	ORPHA:911
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Alg8-Cdg	Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Anemia, Ascites	ORPHA:79325
Velocardiofacial Syndrome	Hypocalcemia	OMIM:192430
Glucose-Galactose Malabsorption	Hypernatremia, Hypercalcemia	ORPHA:35710
Immunodeficiency 22	Anemia, Capillary leak, Ascites, Pericarditis, Decreased proportion of CD4-positive helper T cell...	OMIM:615758
Shigellosis	Myocarditis, Splenic abscess, Cholestasis, Leukocytosis, Hypovolemic shock, Thrombocytopenia, Per...	ORPHA:810
Takenouchi-Kosaki Syndrome	Hypospadias, Pulmonic stenosis, Increased mean platelet volume, Thrombocytopenia, Cryptorchidism	OMIM:616737
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Aplastic anemia, Congenital thrombocytopenia, Amegakaryocytic thrombocytopenia	OMIM:605432
Gaucher Disease, Type Ii	Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly	OMIM:230900
Acquired Hypertrichosis Lanuginosa	Lymphadenopathy	ORPHA:2221
Infantile Myofibromatosis	Hypercalcemia	ORPHA:2591
Aicardi-Goutieres Syndrome 7	Hematemesis, Hepatomegaly, Anemia, Pancytopenia, Vasculitis, Hypertension, Hypertrophic cardiomyo...	OMIM:615846
Deeah Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Decreased heart rate variabi...	OMIM:619004
Congenital Sialidosis Type 2	Hepatomegaly, Ascites, Hepatosplenomegaly, Abnormal EKG, Telangiectasia	ORPHA:93400
Multiple Endocrine Neoplasia Type 1	Hematemesis, Parathyroid carcinoma, Neoplasm of the pancreas, Pituitary gonadotropic cell adenoma...	ORPHA:652
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia...	OMIM:602782
Marburg Hemorrhagic Fever	Jaundice, Pancreatitis, Lymphadenopathy, Elevated circulating hepatic transaminase concentration,...	ORPHA:99826
Craniofacioskeletal Syndrome	Hypocalcemia	OMIM:300712
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypocalcemia, Hyperbilirubinemia	ORPHA:163979
Tangier Disease	Anemia, Chronic noninfectious lymphadenopathy, Orange discolored tonsils, Thrombocytopenia, Hepat...	ORPHA:31150
Wilson Disease	Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Anemia, Hypoparathyroidism, Hepatocellular ca...	OMIM:277900
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature	Anemia, Schistocytosis, Leukopenia, Thrombocytopenia, Lymphopenia, Hemolytic anemia, Neutropenia	OMIM:301110
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypocalcemia, Hypocalcemic seizures	ORPHA:2237
Infection-Related Hemolytic Uremic Syndrome	Hypocalcemia, Hyponatremia, Hyperkalemia	ORPHA:544482
Desmoplastic Small Round Cell Tumor	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:83469
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased liver function, Cirrhosis, Hepatomegaly, Cholelithiasis, Acute promyelocytic leukemia, ...	ORPHA:77293
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Melena, Neonatal alloimmune thrombocytopenia, Subarachnoid hemorrhag...	ORPHA:853
Nephroblastoma	Lymphadenopathy	ORPHA:654
Thyroid Lymphoma	Lymphadenopathy	ORPHA:97285
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Male infertility	OMIM:244400
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Absent tonsils, Lymph node hypoplasia	ORPHA:276
Methylmalonic Aciduria, Cbla Type	Hepatomegaly, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia	OMIM:251100
Hellp Syndrome	Elevated circulating hepatic transaminase concentration, Decreased mean corpuscular hemoglobin co...	ORPHA:244242
Glycogen Storage Disease Ii	Hepatomegaly, Wolff-Parkinson-White syndrome, Right axis deviation, Sinus tachycardia, Splenomega...	OMIM:232300
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Anemia, Pancytopenia, Megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:277380
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hypercalcemia, Hyperphosphatemia	OMIM:211900
3-Methylglutaconic Aciduria, Type Viib	Congestive heart failure, Thrombocytopenia, Leukopenia, Hepatic steatosis, Neutropenia	OMIM:616271
Lujo Hemorrhagic Fever	Myocarditis, Elevated circulating hepatic transaminase concentration, Bradycardia, Fulminant hepa...	ORPHA:319213
Hereditary Folate Malabsorption	Eosinophilia, Megaloblastic anemia, Thrombocytopenia, Pancytopenia	ORPHA:90045
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Congestive heart failure, Enlarged kidney, Anemia, Pulmonary arterial hypertension, Tricuspid reg...	ORPHA:505248
Pheochromocytoma--Islet Cell Tumor Syndrome	Hypercalcemia	OMIM:171420
Congenital Syphilis	Myocarditis, Pancreatitis, Anemia, Lymphadenopathy, Prolonged neonatal jaundice, Hepatosplenomega...	ORPHA:499009
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P...	OMIM:615688
Dyskeratosis Congenita, X-Linked	Cirrhosis, Anemia, Acute myeloid leukemia, Hypospadias, Pancytopenia, Phimosis, Decreased testicu...	OMIM:305000
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Liver Disease, Severe Congenital	Hypocalcemia, Hyperbilirubinemia, Hypoproteinemia, Hyperalaninemia, Hyponatremia, Hyperammonemia,...	OMIM:619991
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Reticulocytosis, Thrombocytopenia, Microangiopathic hemolytic anemia, Schistocytosis	OMIM:235400
Pulmonary Non-Tuberculous Mycobacterial Infection	Lymphadenopathy	ORPHA:411703
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypocalcemia, Hypoalbuminemia, Unconjugated hyperbilirubinemia	OMIM:613658
Sézary Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:3162
Lysinuric Protein Intolerance	Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Leukopenia, Splenomegaly, Thrombocytopenia,...	OMIM:222700
Monosomy 13Q34	Metrorrhagia, Hypercalcemia	ORPHA:96168
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Pancreatiti...	ORPHA:36426
Glycogen Storage Disease Ib	Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transaminase concentrat...	OMIM:232220
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Splenic cyst, Pancreatic hypoplasia, Cholestasis, Pancreatic cysts, Portal hyperten...	OMIM:610199
Congenital Aortic Valve Stenosis	Reduced left ventricular ejection fraction, Angina pectoris, Abnormal pulse pressure, Aortic valv...	ORPHA:3093
Niemann-Pick Disease, Type A	Lymphadenopathy, Splenomegaly	OMIM:257200
Gaucher Disease Type 3	Hepatomegaly, Anemia, Pancytopenia, Pulmonary arterial hypertension, Thrombocytopenia, Splenomegaly	ORPHA:77261
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Congestive heart failure, B lymphocytopenia, Neutropenia in presence...	ORPHA:391487
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia, Bone marrow hypocellularity	ORPHA:3322
Yellow Fever	Hematemesis, Jaundice, Reduced left ventricular ejection fraction, Bradycardia, Capillary leak, S...	ORPHA:99829
Neuroblastoma	Anemia, Lymphadenopathy, Hypertension, Abdominal mass, Thrombocytopenia	ORPHA:635
Leptospirosis	Jaundice, Hepatomegaly, Lymphadenopathy, Hypotension, Retinal hemorrhage, Pericarditis, Thrombocy...	ORPHA:509
Reynolds Syndrome	Gastrointestinal hemorrhage, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase co...	OMIM:613471
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Autoimmune hemolytic anemia, Hepatomegaly, Leukocytosis, Neutrophilia, Hematochezia, Splenomegaly...	OMIM:620565
Addison Disease	Hyperkalemia, Premature ovarian insufficiency, Hyperuricemia, Increased circulating renin level, ...	ORPHA:85138
Late-Onset Isolated Acth Deficiency	Hyponatremia, Premature ovarian insufficiency, Hypercalcemia, Hyperuricemia	ORPHA:199299
Familial Mediterranean Fever	Hepatomegaly, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly, Peritonitis, Orchitis	OMIM:249100
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Cranioectodermal Dysplasia 1	Hypocalcemia	OMIM:218330
Cinca Syndrome	Lymphadenopathy, Splenomegaly, Elevated circulating C-reactive protein concentration	ORPHA:1451
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Hepatomegaly, Bradycardia, Megaloblastic anemia, Cardiac arrest, Hypotension, Pulmonary arterial ...	OMIM:277400
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Autoimmune hemolytic anemia, Reduced red cell adenosine deaminase level, Hepatomegaly, B lymphocy...	OMIM:102700
Primary Ciliary Dyskinesia	Male infertility, Abnormal sperm motility, Female infertility	ORPHA:244
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral stenosis, Splenomegaly, Cardiomegaly	OMIM:231005
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Pancreatitis, Hypertension, Leukocytosis, Reticulocytosis, Thrombocytopenia, Peritonitis, Microan...	ORPHA:90038
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Chronic Granulomatous Disease	Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Abnormality of neutrophils	ORPHA:379
Familial Mediterranean Fever	Pancreatitis, Lymphadenopathy, Vasculitis, Leukocytosis, Ascites, Pericarditis, Arrhythmia, Acute...	ORPHA:342
Scrub Typhus	Lymphadenopathy, Splenomegaly	ORPHA:83317
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Cholelithiasis, Pancytopenia, Azoospermia, Spontaneous, recurrent epistaxis, Pulmonary ar...	ORPHA:2072
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens...	ORPHA:309854
Primary Triglyceride Deposit Cardiomyovasculopathy	Hepatomegaly, Pancreatitis, Angina pectoris, Vacuolated lymphocytes, Low-output congestive heart ...	ORPHA:565612
Sarcoidosis	Decreased liver function, Increased T cell count, Leukopenia, Abnormal reproductive system morpho...	ORPHA:797
Jacobsen Syndrome	Annular pancreas, Hypospadias, Labial hypoplasia, Clitoral hypoplasia, Thrombocytopenia, Cryptorc...	OMIM:147791
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Anaplastic Thyroid Carcinoma	Lymphadenopathy	ORPHA:142
Noonan Syndrome	Juvenile myelomonocytic leukemia, Hepatomegaly, Abnormality of the lymphatic system, Abnormal pla...	ORPHA:648
Apolipoprotein C-Ii Deficiency	Hepatomegaly, Pancreatitis, Splenomegaly	OMIM:207750
Alport Syndrome 1, X-Linked	Hypertension, Hypoparathyroidism, Thrombocytopenia	OMIM:301050
Vexas Syndrome	Arteritis, Thrombocytopenia, Macrocytic anemia	OMIM:301054
Syndromic Diarrhea	Cirrhosis, Hepatomegaly, Aortic regurgitation, Hypoplasia of the thymus, Increased mean platelet ...	ORPHA:84064
Primary Sjögren Syndrome	Normocytic anemia, Vaginal dryness, Lymphadenopathy, Normochromic anemia, Chronic active hepatiti...	ORPHA:289390
Coccidioidomycosis	Abnormality of the male genitalia, Abnormality of the female genitalia, Abnormal sperm morphology	ORPHA:228123
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	ORPHA:79242
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Acute Adrenal Insufficiency	Hyperkalemia, Hyperuricemia, Increased circulating renin level, Hyponatremia, Hypercalcemia, Decr...	ORPHA:95409
Paternal Uniparental Disomy Of Chromosome 1	Increased blood urea nitrogen, Hypercalcemia	ORPHA:251004
Diamond-Blackfan Anemia	Elevated red cell adenosine deaminase activity, Acute myeloid leukemia, Normochromic anemia, Eryt...	ORPHA:124
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Ascites, Thrombocytopenia, Splenomegaly, Micronodular cirrhosis, Hepatic failure	OMIM:301072
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Elevated circulati...	OMIM:619525
Paget Disease Of Bone 2, Early-Onset	Hypercalcemia	OMIM:602080
Muscular Dystrophy, Duchenne Type	Congestive heart failure, Cardiomyopathy, Arrhythmia, Dilated cardiomyopathy, Abnormal EKG	OMIM:310200
Fanconi Anemia	Anemia, Hypospadias, Abnormal preputium morphology, Azoospermia, Bicornuate uterus, Abnormal test...	ORPHA:84
Bernard-Soulier Syndrome	Hematemesis, Gastrointestinal hemorrhage, Giant platelets, Spontaneous, recurrent epistaxis, Decr...	ORPHA:274
Alg12-Cdg	Elevated circulating hepatic transaminase concentration, Hypospadias, B lymphocytopenia, Thromboc...	ORPHA:79324
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Thrombocytopenia, Hypochromic microcytic anemia	ORPHA:3240
Tyrosinemia, Type I	Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Enlarge...	OMIM:276700
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Absent peripheral lymph nodes in presence of infection	ORPHA:98813
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypocalcemic seizures, Hypercalcemia	ORPHA:405
Ogden Syndrome	Enlarged kidney, Jaundice, Macrovesicular hepatic steatosis, Iron deficiency anemia, Microvesicul...	OMIM:300855
Hemorrhagic Fever-Renal Syndrome	Hematemesis, Elevated circulating hepatic transaminase concentration, Anemia, Melena, Capillary l...	ORPHA:340
Primary Biliary Cholangitis	Cirrhosis, Jaundice, Hepatomegaly, Orthostatic hypotension, Hepatocellular carcinoma, Biliary cir...	ORPHA:186
Acute Interstitial Pneumonia	Elevated circulating creatinine concentration, Lymphadenopathy, Elevated circulating C-reactive p...	ORPHA:79126
Medullary Thyroid Carcinoma	Lymphadenopathy	ORPHA:1332
Digeorge Syndrome	Hypocalcemia, Hypoplasia of the thymus, Splenomegaly, Abnormal thymus morphology	OMIM:188400
Gaucher Disease	Cirrhosis, Hepatomegaly, Anemia, Cholelithiasis, Pancytopenia, Splenic infarction, Pulmonary arte...	ORPHA:355
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hypocalcemia, Hypomagnesemia, Hepatosplenomegaly	OMIM:619503
Diffuse Cutaneous Mastocytosis	Lymphadenopathy, Abnormality of the spleen	ORPHA:79456
Lipodystrophy, Congenital Generalized, Type 1	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:608594
Rift Valley Fever	Hematemesis, Jaundice, Elevated circulating hepatic transaminase concentration, Anemia, Melena, R...	ORPHA:319251
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233710
Omenn Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:39041
Insulin-Resistance Syndrome Type B	Abnormal salivary gland morphology, Biliary cirrhosis, Enlarged polycystic ovaries, Thrombocytope...	ORPHA:2298
Lipodystrophy, Congenital Generalized, Type 2	Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr...	OMIM:269700
Spinal Cord Injury	Hypercalcemia	ORPHA:90058
Klatskin Tumor	Lymphadenopathy	ORPHA:99978
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ...	OMIM:256040
Dubowitz Syndrome	Abnormal female external genitalia morphology, Anemia, Hypospadias, Hypoparathyroidism, Cryptorch...	ORPHA:235
Pancreatoblastoma	Abnormal lymph node morphology	ORPHA:677
Thrombocytopenia-Absent Radius Syndrome	Aplasia of the uterus, Thrombocytopenia	ORPHA:3320
Immunodeficiency 10	Lymphadenopathy, Splenomegaly	OMIM:612783
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Splenomegaly, Impaired oxidative bur...	OMIM:233690
Sporadic Pheochromocytoma/Secreting Paraganglioma	Hypercalcemia	ORPHA:276621
Diamond-Blackfan Anemia 21	Thrombocytopenia, Aortic regurgitation, Anemia, Erythroid hypoplasia	OMIM:620072
Hypocomplementemic Urticarial Vasculitis	Lymphadenopathy, Splenomegaly	ORPHA:36412
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Hypoplastic nipples, Anemia	ORPHA:261323
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Hypercalcemia	ORPHA:476126
Wiskott-Aldrich Syndrome	Autoimmune hemolytic anemia, Hematemesis, Small vessel vasculitis, Large vessel vasculitis, Impai...	OMIM:301000
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Lymphadenopathy, Elevated circulating C-reactive protein concentration	OMIM:617099
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Lymphadenopathy	ORPHA:169154
Paroxysmal Nocturnal Hemoglobinuria	Myocardial infarction, Jaundice, Anemia, Pancytopenia, Hypertension, Abnormal erythrocyte enzyme ...	ORPHA:447
Ivic Syndrome	Thrombocytopenia, Leukocytosis, Rectovaginal fistula	OMIM:147750
Lysinuric Protein Intolerance	Cirrhosis, Hepatomegaly, Pancreatitis, Hemophagocytosis, Anemia, Decreased response to growth hor...	ORPHA:470
H Syndrome	Hypertriglyceridemia, Lymphadenopathy, Azoospermia, Hepatosplenomegaly, Hypogonadism, Amenorrhea	ORPHA:168569
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Anemia, Pancytopenia, Pulmonic stenosis, Thrombocytopenia, Leukopenia, Lymphopenia	OMIM:620654
Cornelia De Lange Syndrome 1	Hypospadias, Hypoplastic male external genitalia, Hypoplastic nipples, Duplication of internal or...	OMIM:122470
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Abnormal salivary gland morphology, Lymphadenopathy, Abnormality of the...	ORPHA:79078
Autosomal Dominant Kenny-Caffey Syndrome	Hyperphosphatemia, Hypocalcemic seizures, Hypocalcemic tetany	ORPHA:93325
Dopamine Beta-Hydroxylase Deficiency	Anemia, Orthostatic hypotension, Orthostatic syncope, Syncope, Abnormal EKG	ORPHA:230
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia, Arterial rupture	OMIM:612394
Charge Syndrome	Aplasia/Hypoplasia of the thymus, Hypogonadotropic hypogonadism, Hypocalcemia	OMIM:214800
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Enlarged tonsils, Hepatosplenomegaly, Lymphadenopathy	OMIM:606367
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Retinal telangiectasia, Anemia, Gastrointestinal telangiectasia, Bone marrow hypocellularity, Thr...	OMIM:612199
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Hypocalcemia	OMIM:620330
Hyperimmunoglobulinemia D With Periodic Fever	Lymphadenopathy	ORPHA:343
Poems Syndrome	Lymphadenopathy, Erectile dysfunction, Splenomegaly, Hypogonadism	ORPHA:2905
Mixed Connective Tissue Disease	Lymphadenopathy, Mediastinal lymphadenopathy, Splenomegaly	ORPHA:809
Lymphatic Filariasis	Lymphangiectasis, Lymphadenopathy, Abnormality of the lymphatic system, Lymphadenitis, Orchitis	ORPHA:2035
Hyperlipoproteinemia, Type I	Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly	OMIM:238600
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Lymphadenopathy, Splenomegaly	ORPHA:436159
Diamond-Blackfan Anemia 1	Congestive heart failure, Elevated red cell adenosine deaminase activity, Macrocytic anemia, Incr...	OMIM:105650
Bloom Syndrome	Premature ovarian insufficiency, Oligozoospermia, Male infertility, Azoospermia	ORPHA:125
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Wars2-Related Combined Oxidative Phosphorylation Defect	Cardiomyopathy, Thrombocytopenia	ORPHA:572798
Hyperlipoproteinemia, Type Id	Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis	OMIM:615947
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Hypokalemia, Hypochloremia, Increased serum prostaglandin E2, Increased circula...	OMIM:601678
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Hypertriglyceridemia, Hypercalcemia	ORPHA:369837
Agammaglobulinemia, X-Linked	Prostatitis, Lymph node hypoplasia	OMIM:300755
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Atelis Syndrome 2	Anemia, Supravalvar pulmonary stenosis, Pulmonic stenosis, Thrombocytopenia, Vitreous hemorrhage	OMIM:620185
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Reduced left ventricular ejection fraction, Right bundle branch block, Right ventricular hypertro...	ORPHA:268
Hereditary Pheochromocytoma-Paraganglioma	Hypercalcemia	ORPHA:29072
Lig4 Syndrome	Lymphadenopathy	ORPHA:99812
Aicardi-Goutières Syndrome	Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all...	ORPHA:51
Down Syndrome	Leukemia, Abnormality of the lymphatic system, Polycythemia, Neutrophilia, Thrombocytopenia, Acut...	ORPHA:870
Jacobsen Syndrome	Annular pancreas, Aortic valve stenosis, Bone marrow hypocellularity, Thrombocytopenia, Cryptorch...	ORPHA:2308
Cutaneous Neuroendocrine Carcinoma	Chronic noninfectious lymphadenopathy	ORPHA:79140
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Generalized lymphadenopathy, Hepatosplenomegaly, Lymphadenitis	OMIM:618986
Graft Versus Host Disease	Hyperbilirubinemia, Hepatosplenomegaly, Lymphadenopathy	ORPHA:39812
Chronic Thromboembolic Pulmonary Hypertension	Congestive heart failure, Increased pulmonary vascular resistance, Right bundle branch block, Mye...	ORPHA:70591
Pheochromocytoma	Hypercalcemia	OMIM:171300
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Jaundice, Megaloblastic anemia, Pulmonary arterial hypertension, Thrombocytopenia, Dilated cardio...	ORPHA:79282
Woodhouse-Sakati Syndrome	Hypoplasia of the fallopian tube, Hypergonadotropic hypogonadism, Decreased testicular size, Micr...	OMIM:241080
Combined Oxidative Phosphorylation Deficiency 55	Thrombocytopenia, Anemia	OMIM:619743
Multiple Endocrine Neoplasia Type 2	Hypercalcemia, Cervical lymphadenopathy	ORPHA:653
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hypertriglyceridemia, Lymphadenopathy, Accessory spleen, Splenomegaly, Primary amenorrhea, Polysp...	OMIM:619418
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Increased mean platelet volume, Abnormality of the lymphatic system, Thrombocytopenia, Hypospadias	ORPHA:487796
Pulmonary Capillary Hemangiomatosis	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Acute Liver Failure	Gastrointestinal hemorrhage, Jaundice, Elevated circulating hepatic transaminase concentration, H...	ORPHA:90062
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Generalized lymphadenopathy	OMIM:620232
Holocarboxylase Synthetase Deficiency	Thrombocytopenia	OMIM:253270
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia	ORPHA:457351
Hyper-Igd Syndrome	Lymphadenitis, Lymphadenopathy, Hepatosplenomegaly, Splenomegaly	OMIM:260920
Thrombocytopenia-Absent Radius Syndrome	Anemia, Aplasia of the uterus, Leukocytosis, Thrombocytopenia, Hepatosplenomegaly, Eosinophilia, ...	OMIM:274000
Congenital Erythropoietic Porphyria	Reticulocytosis, Poikilocytosis, Anisocytosis, Leukopenia, Splenomegaly, Thrombocytopenia, Erythr...	ORPHA:79277
Roberts Syndrome	Clitoral hypertrophy, Cryptorchidism, Thrombocytopenia, Long penis	ORPHA:3103
Ectodermal Dysplasia And Immunodeficiency 2	Hepatomegaly, Aplasia of the sweat glands, Splenomegaly	OMIM:612132
Grfoma	Hypercalcemia, Neoplasm of the thymus	ORPHA:97261
Cardiac Diverticulum	Congestive heart failure, Angina pectoris, Tricuspid stenosis, Premature ventricular contraction,...	ORPHA:1686
Friedreich Ataxia	Congestive heart failure, Abnormal EKG, Hypertrophic cardiomyopathy	OMIM:229300
Woodhouse-Sakati Syndrome	Decreased response to growth hormone stimulation test, Hypoplasia of the uterus, Abnormal spermat...	ORPHA:3464
Malt Lymphoma	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:52417
Hypotrichosis And Recurrent Skin Vesicles	Abnormal EKG	OMIM:613102
Johanson-Blizzard Syndrome	Hypocalcemia, Splenomegaly, Conjugated hyperbilirubinemia, Increased VLDL cholesterol concentration	OMIM:243800
Drug Reaction With Eosinophilia And Systemic Symptoms	Lymphadenopathy	ORPHA:139402
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Thrombocytopenia, Normochromic anemia	OMIM:254900
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Thrombocytopenia	OMIM:620423
Systemic Lupus Erythematosus	Lymphadenopathy, Hypertension, Thrombocytopenia, Leukopenia, Raynaud phenomenon, Hemolytic anemia	ORPHA:536
Multiple Endocrine Neoplasia Type 4	Hypercalcemia, Thymoma	ORPHA:276152
Multiple Endocrine Neoplasia, Type I	Hypercalcemia	OMIM:131100
Carney Triad	Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:139411
Waldenström Macroglobulinemia	Lymphadenopathy, Splenomegaly	ORPHA:33226
Tick-Borne Encephalitis	Elevated circulating hepatic transaminase concentration, Thrombocytopenia, Leukopenia, Leukocytosis	ORPHA:297
African Trypanosomiasis	Myocarditis, Congestive heart failure, Jaundice, Hepatomegaly, Lymphadenopathy, Abnormal prolacti...	ORPHA:3385
Absence Of The Pulmonary Artery	Congestive heart failure, Atrial flutter, Reduced left ventricular ejection fraction, Tachycardia...	ORPHA:980
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, B lymphocytopenia, T lymphocytopenia, Conjunctival telangiectasia, T...	OMIM:251260
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Lymphadenopathy, Splenomegaly, Orchitis, Elevated circulating C-reactive protein concentration	ORPHA:32960
Osteopetrosis, Autosomal Recessive 7	Hypocalcemic seizures, Splenomegaly	OMIM:612301
Acute Generalized Exanthematous Pustulosis	Lymphadenopathy	ORPHA:293173
Vipoma	Hypercalcemia, Hypokalemia	ORPHA:97282
Cystinosis, Nephropathic	Male infertility, Hypophosphatemic rickets, Hypokalemia, Reduced blood urea nitrogen, Decreased c...	OMIM:219800
Malakoplakia	Follicular hyperplasia, Orchitis, Abnormality of the menstrual cycle	ORPHA:556
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
Familial Pancreatic Carcinoma	Hepatosplenomegaly, Lymphadenopathy	ORPHA:1333
Oculocerebrorenal Syndrome Of Lowe	Anemia, Azoospermia, Thrombocytopenia, Cryptorchidism, Hyperparathyroidism	ORPHA:534
Immunodeficiency 55	Lymphadenopathy	OMIM:617827
Autoimmune Lymphoproliferative Syndrome	Premature ovarian insufficiency, Lymphadenopathy, Chronic noninfectious lymphadenopathy, Bone mar...	ORPHA:3261
Granulomatous Disease, Chronic, X-Linked	Lymphadenitis, Lymphadenopathy, Splenomegaly	OMIM:306400
Cystic Fibrosis	Male infertility	OMIM:219700
Ppoma	Hypercalcemia	ORPHA:97278
Selective Igm Deficiency	Lymphadenitis, Lymphadenopathy	ORPHA:331235
Noonan Syndrome 1	Juvenile myelomonocytic leukemia, Hypospadias, Amegakaryocytic thrombocytopenia, Hypertrophic car...	OMIM:163950
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Acute leukemia, Thrombocytopenia, Hemolytic anemia	ORPHA:647
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Absent peripheral lymph nodes in presence of infection	OMIM:600802
Somatostatinoma	Hypercalcemia	ORPHA:97283
Spondyloenchondrodysplasia With Immune Dysregulation	Lymphadenopathy	OMIM:607944
Zollinger-Ellison Syndrome	Hypercalcemia	ORPHA:913
Glucagonoma	Hypercalcemia	ORPHA:97280
Immunodeficiency 31C	Lymphadenopathy, Splenomegaly	OMIM:614162
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Pulmonary lymphangiomyomatosis, Lymphadenopathy	ORPHA:538
Immunodeficiency 82 With Systemic Inflammation	Lymphadenopathy, Elevated circulating C-reactive protein concentration, Hypernatremia, Splenomega...	OMIM:619381
Igg4-Related Kidney Disease	Prostatitis, Lymphadenopathy, Elevated circulating C-reactive protein concentration, Decreased re...	ORPHA:449395
Cystic Fibrosis	Absent vas deferens, Male infertility	ORPHA:586
Williams Syndrome	Abnormal circulating lipid concentration, Elevated circulating creatine kinase concentration, Fun...	ORPHA:904
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hepatosplenomegaly, Lymphadenopathy	ORPHA:85408
Igg4-Related Submandibular Gland Disease	Prostatitis, Lymphadenopathy	ORPHA:449432
Igg4-Related Ophthalmic Disease	Lymphadenopathy, Prostatitis, Orchitis, Elevated circulating C-reactive protein concentration	ORPHA:449563
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Ileal Neuroendocrine Tumor	Lymphadenopathy	ORPHA:100078
Osteogenesis Imperfecta	Cerebral hemorrhage, Thrombocytopenia, Aortic regurgitation	ORPHA:666
Behçet Disease	Lymphadenopathy, Splenomegaly, Orchitis	ORPHA:117
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Cushing Syndrome Due To Ectopic Acth Secretion	Abnormal lymph node morphology, Secondary amenorrhea, Neoplasm of the thymus, Oligomenorrhea, Ame...	ORPHA:99889
Sotos Syndrome	Hypercalcemia, Decreased fertility	ORPHA:821
Williams-Beuren Syndrome	Hypercalcemia	OMIM:194050
Blau Syndrome	Lymphadenopathy, Splenomegaly	ORPHA:90340
Friedreich Ataxia 2	Congestive heart failure, Abnormal EKG, Concentric hypertrophic cardiomyopathy	OMIM:601992

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

Phenotype	Allele	Zygosity	Sex	Life Stage
Testis - MPATH pathological process term hypoplasia	Sun5^em1(IMPC)Mbp	HOM		Early adult
Epididymis - MPATH pathological process term hypoplasia	Sun5^em1(IMPC)Mbp	HOM		Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sun5.

No publications found that use IMPC mice or data for Sun5.

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MGI Allele	Allele Type	Produced
Sun5^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Sun5^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Sun5 MGI:1923657

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