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Gene: Btbd18 MGI:3650217

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Gene Summary

Name:
BTB domain containing 18
Synonyms:
N/A

Order Alleles

IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
small lung Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
small testis Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged spleen Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal liver morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
small seminal vesicle Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal spleen morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal lung morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Btbd18em1(IMPC)Ccpcz HOM Early adult 0.00

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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Human diseases caused by Btbd18 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Btbd18 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Spermatogenic Failure 50
Decreased testicular size, Male infertility, Spermatogenesis maturation arrest, Azoospermia OMIM:619145
Spermatogenic Failure 57
Decreased testicular size, Male infertility, Non-obstructive azoospermia, Spermatogenesis maturat... OMIM:619528
Partial Chromosome Y Deletion
Male infertility, Abnormal spermatogenesis, Oligozoospermia, Decreased testicular size, Non-obstr... ORPHA:1646
Spermatogenic Failure 25
Male infertility, Decreased testicular size, Cryptozoospermia, Non-obstructive azoospermia, Sperm... OMIM:617960
Isochromosomy Yp
Male infertility, Azoospermia, Decreased testicular size, Ambiguous genitalia, Primary gonadal in... ORPHA:98797
Spermatogenic Failure 30
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Cryptozoospermia, Cryptorchidism OMIM:618110
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
Spermatogenic Failure 48
Male infertility, Oligozoospermia, Spermatogenesis maturation arrest, Azoospermia OMIM:619108
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 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
Isochromosomy Yq
Male infertility, Azoospermia, Decreased testicular size, Varicocele, Ambiguous genitalia, Primar... ORPHA:98798
Spermatogenic Failure 12
Infertility, Abnormal male germ cell morphology, Azoospermia OMIM:615413
Spermatogenic Failure 70
Male infertility, Reduced sperm motility, Oligozoospermia, Azoospermia OMIM:619828
Spermatogenic Failure 22
Male infertility, Cryptozoospermia, Non-obstructive azoospermia OMIM:617706
Spermatogenic Failure 29
Male infertility, Immotile sperm, Non-obstructive azoospermia OMIM:618091
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Obstructive azoospermia, Azoospermia, Abnormal spermatogenesis, Decreased testicular size, Non-ob... ORPHA:399805
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, X-Linked, 2
Male infertility, Spermatogenesis maturation arrest, Testicular atrophy, Azoospermia OMIM:309120
Spermatogenic Failure 35
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Absent sperm f... OMIM:618341
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Spermatogenic Failure 63
Decreased testicular size, Male infertility, Oligozoospermia, Reduced progressive sperm motility OMIM:619689
Spermatogenic Failure 20
Short sperm flagella, Male infertility, Absent sperm flagella, Coiled sperm flagella OMIM:617593
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 8
Oligozoospermia, Cryptozoospermia, Azoospermia OMIM:613957
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, X-Linked, 5
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:301099
Young Syndrome
Obstructive azoospermia, Decreased fertility ORPHA:3471
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 65
Short sperm flagella, Male infertility, Oligozoospermia, Abnormal sperm mid-piece morphology, Red... OMIM:619712
Spermatogenic Failure 84
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620409
Spermatogenic Failure, X-Linked, 3
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Absent sperm fla... OMIM:301059
Spermatogenic Failure 56
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:619515
Spermatogenic Failure 40
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, C... OMIM:618664
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 54
Short sperm flagella, Male infertility, Abnormal sperm axoneme morphology, Tapered sperm head, Ol... OMIM:619379
Spermatogenic Failure 47
Short sperm flagella, Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella OMIM:619102
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly
Male hypogonadism, Azoospermia OMIM:241000
Spermatogenic Failure 78
Male infertility, Tapered sperm head, Microcephalic sperm head OMIM:620170
Spermatogenic Failure 58
Short sperm flagella, Male infertility, Oligozoospermia, Reduced progressive sperm motility, Immo... OMIM:619585
Spermatogenic Failure 39
Short sperm flagella, Male infertility, Tapered sperm head, Oligozoospermia, Reduced sperm motili... OMIM:618643
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Male infertility, Reduced sper... OMIM:620354
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 79
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility OMIM:620196
Spermatogenic Failure 1
Male infertility, Oligozoospermia, Cryptozoospermia OMIM:258150
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 42
Short sperm flagella, Male infertility, Microcephalic sperm head, Tapered sperm head, Reduced spe... OMIM:618745
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
Deleted in azoospermia
Azoospermia OMIM:400003
Spermatogenic Failure 7
Male infertility, Oligozoospermia, Immotile sperm, Reduced sperm motility OMIM:612997
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular size, Globozoosper... ORPHA:399808
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm head morphology, Abnormal spermatogenesis, Reduced sperm motilit... OMIM:611102
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure, X-Linked, 6
Short sperm flagella, Male infertility, Absent sperm axoneme central pair complex, Abnormal male ... OMIM:301101
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 75
Male infertility, Spermatocyte maturation arrest, Elevated circulating follicle stimulating hormo... OMIM:619949
Spermatogenic Failure 5
Male infertility, Macrozoospermia, Multiflagellar spermatozoa OMIM:243060
Spermatogenic Failure 51
Short sperm flagella, Absent sperm axoneme central pair complex, Microcephalic sperm head, Oligoz... OMIM:619177
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Spinocerebellar Ataxia Type 32
Male infertility, Testicular atrophy, Azoospermia ORPHA:276183
Spermatogenic Failure 86
Male infertility, Abnormal sperm head morphology, Acephalic spermatozoa, Acrosomal hypoplasia, Ru... OMIM:620499
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 2
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:108420
Spermatogenic Failure 77
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:620103
Spermatogenic Failure 15
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating fo... OMIM:616950
Spinocerebellar Ataxia 32
Infertility, Testicular atrophy, Azoospermia OMIM:613909
Ring Chromosome Y Syndrome
Ambiguous genitalia, male, Gonadal dysgenesis, Abnormality of the female genitalia, Male infertil... ORPHA:261529
Spermatogenic Failure 17
Male infertility OMIM:617214
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Spermatogenic Failure 44
Male infertility, Abnormal circulating testosterone concentration, Acephalic spermatozoa, Decreas... OMIM:619044
Spermatogenic Failure 81
Male infertility, Oligozoospermia, Acrosomal hypoplasia, Reduced progressive sperm motility OMIM:620277
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Decreased cirrculating antimullerian hormone circulation, Bilateral cryptorchidism OMIM:261550
Spermatogenic Failure 28
Male infertility, Decreased testicular size, Elevated circulating follicle stimulating hormone le... OMIM:618086
Young Syndrome
Azoospermia OMIM:279000
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
Isolated Follicle Stimulating Hormone Deficiency
Delayed puberty, Male hypogonadism, Azoospermia, Oligozoospermia, Delayed menarche, Testicular at... ORPHA:52901
Spermatogenic Failure 38
Male infertility, Abnormal sperm head morphology, Abnormal axonemal organization of respiratory m... OMIM:618433
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615842
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Reduced sperm motility, Globozoospermia, Excess res... OMIM:301106
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Infertility, Decre... OMIM:229070
Hypogonadism, Male
Testicular atrophy, Male hypogonadism, Micropenis, Hypospadias OMIM:241100
Spermatogenic Failure 85
Male infertility, Acephalic spermatozoa, Globozoospermia, Reduced progressive sperm motility, Coi... OMIM:620490
Premature Ovarian Failure 10
Premature ovarian insufficiency, Azoospermia, Hypoplasia of the ovary, Decreased testicular size,... OMIM:612885
Spermatogenic Failure 24
Short sperm flagella, Microcephalic sperm head, Tapered sperm head, Reduced sperm motility, Coile... OMIM:617959
Ciliary Dyskinesia, Primary, 50
Short sperm flagella, Male infertility, Reduced sperm motility, Reduced progressive sperm motilit... OMIM:620356
Congenital Bilateral Absence Of Vas Deferens
Absent vas deferens, Male infertility, Oligozoospermia, Obstructive azoospermia ORPHA:48
Morbid Obesity And Spermatogenic Failure
Infertility, Oligozoospermia, Type II diabetes mellitus, Azoospermia OMIM:615703
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Male infertility, Abnormal circulating te... OMIM:615841
Spermatogenic Failure 6
Male infertility, Globozoospermia, Decreased acrosin in sperm head OMIM:102530
Spermatogenic Failure, X-Linked, 4
Male infertility, Azoospermia, Abnormal prolactin level, Elevated circulating follicle stimulatin... OMIM:301077
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Long penis, Oligozoospermia, Precocious puberty, Macroorchidism ORPHA:3000
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Delayed puberty, Azoospermia, Secondary amenorrhea, Testicular microlithiasis, Decreased circulat... OMIM:228300
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
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome
Hepatomegaly, Splenomegaly ORPHA:2274
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypoplasia of the uterus, Azoospermia, Decreased circulating follicle stimulating hormone concent... OMIM:614837
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hypergonadotropic hypogonadism, Azoospermia OMIM:613724
Androgen Insensitivity, Partial
Absent vas deferens, Azoospermia, Infertility, Bifid scrotum, Male pseudohermaphroditism, Cryptor... OMIM:312300
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
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:614897
Hemochromatosis, Type 2A
Amenorrhea, Infertility, Hypogonadotropic hypogonadism, Azoospermia OMIM:602390
Hydrocephalus-Obesity-Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Abnormality of the hypothalamus-pituitary axis, Azoospermia ORPHA:2183
Ciliary Dyskinesia, Primary, 51
Short sperm flagella, Male infertility, Oligozoospermia, Reduced sperm motility, Reduced progress... OMIM:620438
Kennedy Disease
Decreased fertility, Type II diabetes mellitus, Erectile dysfunction, Testicular atrophy ORPHA:481
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Aplasia/hypoplasia of the uterus, Bicornuate uterus, Azoospermia ORPHA:2578
Adrenal Hypoplasia, Congenital
Delayed puberty, Azoospermia, Adrenal hypoplasia, Oligozoospermia, Precocious puberty, Absence of... OMIM:300200
Ethanolaminosis
Cardiomegaly OMIM:227150
Hemochromatosis, Type 1
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Azoospermia, He... OMIM:235200
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Increased circulating antimullerian hormone concentration, Aplasia of the u... ORPHA:90797
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Azoospermia, Decreased circulating follicle stimulating hormone concentration, Decreased circulat... OMIM:308700
Ciliary Dyskinesia, Primary, 40
Absent outer dynein arms, Infertility, Patent ductus arteriosus, Azoospermia OMIM:618300
46,Xy Partial Gonadal Dysgenesis
Delayed puberty, Abnormal labia morphology, Testicular gonadoblastoma, Gonadal dysgenesis, Clitor... ORPHA:251510
Normosmic Congenital Hypogonadotropic Hypogonadism
Delayed puberty, Increased female libido, Absence of secondary sex characteristics, Hypoplasia of... ORPHA:432
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:139406
48,Xyyy Syndrome
Primary gonadal insufficiency, Male hypogonadism, Azoospermia ORPHA:99329
Glycoprotein Storage Disease
Splenomegaly OMIM:232900
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Autoimmune hemolytic anemia, Lymphadenopathy, Respiratory tract infection, Splenomegaly, Lymphope... ORPHA:444463
Maternal Uniparental Disomy Of Chromosome X
Ambiguous genitalia, Primary gonadal insufficiency, Gonadal tissue inappropriate for external gen... ORPHA:261519
Hemochromatosis, Type 2B
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Seconda... OMIM:613313
47,Xyy Syndrome
Male infertility, Hypospadias, Increased serum testosterone level, Azoospermia, Oligozoospermia, ... ORPHA:8
46,Xx Sex Reversal 2
Hypoplasia of the uterus, Ovotestis, Azoospermia, Infertility, Bifid scrotum, Decreased serum tes... OMIM:278850
Alpha-1-Antitrypsin Deficiency
Cirrhosis, Elevated circulating hepatic transaminase concentration, Panacinar emphysema, Hepatoce... OMIM:613490
Neutrophilia, Hereditary
Neutrophilia, Splenomegaly OMIM:162830
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Delayed puberty, Decreased response to growth hormone stimulation test, Azoospermia, Hypergonadot... ORPHA:280679
Immunodeficiency 104
Hepatomegaly, Lymphadenopathy, T lymphocytopenia, Splenomegaly, Pneumonia OMIM:608971
Testicular Regression Syndrome
Abnormal male internal genitalia morphology, Aplasia/Hypoplasia of the testes, Hypoplasia of peni... ORPHA:983
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
49,Xyyyy Syndrome
External genital hypoplasia, Increased circulating gonadotropin level, Azoospermia, Abnormality o... ORPHA:99330
46,Xx Sex Reversal 1
Clitoral hypertrophy, Ovotestis, Hypospadias, Azoospermia, Bicornuate uterus, True hermaphroditis... OMIM:400045
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Bicornuate uterus, Cryptorchidism, Pulmonary hypoplasia, Ventricular sep... OMIM:615524
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Hepatomegaly, Anemia, Splenomegaly, Persistence of hemoglobin F ORPHA:46532
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Decreased fertility, Testicular atrophy OMIM:313200
Hypereosinophilic Syndrome, Idiopathic
Endocardial fibrosis, Hepatomegaly, Restrictive cardiomyopathy, Myeloproliferative disorder, Sple... OMIM:607685
Ring Chromosome 21 Syndrome
Amenorrhea, Infertility, Diabetes insipidus, Azoospermia ORPHA:1445
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Ambiguous genitalia, male, Clitoral hypertrophy, Increased circulating androstenedione concentrat... ORPHA:90791
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Splenomegaly OMIM:619813
Hypogonadism-Cataract Syndrome
Infertility, Male hypogonadism, Elevated circulating follicle stimulating hormone level, Hypogona... OMIM:240950
Hemoglobin H Disease
HbH hemoglobin, Hepatomegaly, Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia OMIM:613978
Testicular Germ Cell Tumor
Azoospermia OMIM:273300
Mantle Cell Lymphoma
Splenomegaly, Lymphadenopathy ORPHA:52416
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Hypoplasia of the uterus, Bicornuate uterus, Azoospermia OMIM:601076
Trimethylaminuria
Recurrent pneumonia, Anemia, Splenomegaly, Neutropenia OMIM:602079
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Lymphadenopathy, Decreased proportion of class-switched memory B cells, Increased proportion of t... OMIM:615513
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Azoospermia OMIM:615234
Renal-Hepatic-Pancreatic Dysplasia 2
Abnormal lung lobation, Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus... OMIM:615415
Immunodeficiency 42
Splenomegaly, Hepatomegaly, Hypoplasia of the thymus OMIM:616622
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Pancytopenia OMIM:183350
Proteasome-Associated Autoinflammatory Syndrome 5
Hepatomegaly, Splenomegaly OMIM:619175
Niemann-Pick Disease, Type B
Abnormal pulmonary interstitial morphology, Sea-blue histiocytosis, Anemia, Hepatomegaly, Bone-ma... OMIM:607616
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Sandhoff Disease
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:796
48,Xxyy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Hypergonadotropic hypogonadism, Decreased testicul... ORPHA:10
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism OMIM:300886
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase
Splenomegaly, Recurrent pancreatitis OMIM:118830
Sea-Blue Histiocyte Disease
Cirrhosis, Sea-blue histiocytosis, Elevated circulating alanine aminotransferase concentration, T... OMIM:269600
Immunodeficiency 48
Hepatomegaly, Impaired lymphocyte transformation with phytohemagglutinin, Splenomegaly, Abnormal ... OMIM:269840
Isolated Splenogonadal Fusion
Abnormal epididymis morphology, Ectopia of the spleen, Bilateral cryptorchidism, Unilateral crypt... ORPHA:457083
Hypertriglyceridemia, Transient Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Hepatic fibr... OMIM:614480
Congenital Disorder Of Glycosylation, Type Ik
Hepatomegaly, Cardiomyopathy, Splenomegaly, Hypogonadism OMIM:608540
Persistent Polyclonal B-Cell Lymphocytosis
Lymphocytosis, Hepatomegaly, Splenomegaly OMIM:606445
Immunodeficiency 76
Lymphadenopathy, B lymphocytopenia, T lymphocytopenia, Recurrent pneumonia, Splenomegaly, Lymphop... OMIM:619164
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Anemia, Hypospadias, Hypoplasia of penis, Ascites, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:1046
Tyrosinemia Type 1
Splenomegaly, Hepatomegaly, Acute hepatic failure, Hepatocellular carcinoma ORPHA:882
Hemoglobin D Disease
Anemia, HbS hemoglobin, Reduced alpha/beta synthesis ratio, Sickled erythrocytes, Decreased mean ... ORPHA:90039
Nphp3-Related Meckel-Like Syndrome
Abnormal liver parenchyma morphology, Abnormal biliary tract morphology, Pulmonary hypoplasia, Ab... ORPHA:3032
Splenoportal Vascular Anomalies
Cirrhosis, Anomalous splenoportal venous system, Ascites, Splenomegaly, Hepatic fibrosis, Diabete... OMIM:271500
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Abnormal pulmonary interstitial morphology, Anemia, Lymphadenopathy, Hemophagocytosis, Recurrent ... OMIM:613101
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Mediastinal lymphadenopathy, Lymphadenopathy, Recurrent respiratory infections, Recurrent bronchi... OMIM:300853
Neonatal Severe Primary Hyperparathyroidism
Abnormal circulating calcium-phosphate regulating hormone concentration, Hepatomegaly, Splenomega... ORPHA:417
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Decreased response to growth hormone stimulation test, Decreased cirrculating antimullerian hormo... OMIM:300845
Beta-Thalassemia, Dominant Inclusion Body Type
Hepatomegaly, Decreased mean corpuscular hemoglobin concentration, Persistence of hemoglobin F, E... OMIM:603902
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Autoimmune hemolytic anemia, Fluctuating splenomegaly, Lymphadenopathy, Recurrent lower respirato... OMIM:619220
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopenia, Splenomegaly, Erythroid hyperplas... OMIM:133180
Ras-Associated Autoimmune Leukoproliferative Disorder
Hepatomegaly, Recurrent respiratory infections, Pancytopenia, Lymphocytosis, Splenomegaly, Hemoly... OMIM:614470
Hyperbilirubinemia, Shunt, Primary
Jaundice, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Splenomegaly, Erythroid... OMIM:237800
Cholestasis, Progressive Familial Intrahepatic, 12
Jaundice, Hepatomegaly, Cholestasis, Elevated circulating alanine aminotransferase concentration,... OMIM:620010
Congenital Toxoplasmosis
Jaundice, Anemia, Lymphadenopathy, Hepatomegaly, Elevated circulating hepatic transaminase concen... ORPHA:858
Wolman Disease
Hepatomegaly, Acute hepatic failure, Splenomegaly, Adrenal calcification OMIM:620151
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Jaundice, Cholestasis, Elevated circulating alanine aminotransferase concentration, Hepatic bridg... OMIM:619658
Follicular Lymphoma
Mediastinal lymphadenopathy, Lymphadenopathy, Abnormal peritoneum morphology, Pleural effusion, S... ORPHA:545
Congenital Bile Acid Synthesis Defect Type 1
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Bilia... ORPHA:79301
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Hepatomegaly, Splenomegaly, Aplasia/Hypoplasia of the lungs ORPHA:2204
Ciliary Dyskinesia, Primary, 45
Absent inner and outer dynein arms, Male infertility OMIM:618801
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Bronchiectasis, Recurrent... OMIM:617514
Renal-Hepatic-Pancreatic Dysplasia 1
Situs inversus totalis, Cirrhosis, Hyperechogenic pancreas, Hepatomegaly, Atrial septal defect, E... OMIM:208540
Anemia, Congenital Dyserythropoietic, Type Ii
Jaundice, Cholelithiasis, Anemia of inadequate production, Reticulocytosis, Splenomegaly OMIM:224100
Immunodeficiency 109 With Lymphoproliferation
Recurrent lower respiratory tract infections, Pancytopenia, Recurrent sinusitis, Splenomegaly, Br... OMIM:620282
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Delayed puberty, Absence of secondary sex characteristics, Breast hypoplasia, Increased circulati... ORPHA:2232
Immunodeficiency 16
Coombs-positive hemolytic anemia, Splenomegaly, Pancytopenia OMIM:615593
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Hepatomegaly, Splenomegaly OMIM:619462
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Thrombocytopenia, Anemia, Splenomegaly, Abnormal hemoglobin ORPHA:231393
Kallmann Syndrome With Spastic Paraplegia
Decreased circulating follicle stimulating hormone concentration, Decreased circulating luteinizi... OMIM:308750
Matthew-Wood Syndrome
Annular pancreas, Aplasia/Hypoplasia of the pancreas, Abnormal spleen morphology, Abnormal lung m... ORPHA:2470
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Azoospermia, Abnormality of the hypothalamus-pituitary axis, Hypothyroidism, Hypogonadism, Adrena... ORPHA:300298
Sarcoidosis, Susceptibility To, 2
Pneumothorax, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopat... OMIM:612387
Combined Oxidative Phosphorylation Deficiency 8
Cardiomegaly, Pulmonary hypoplasia, Hypertrophic cardiomyopathy OMIM:614096
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Familial Glucocorticoid Deficiency
Azoospermia, Decreased circulating dehydroepiandrosterone concentration, Cryptorchidism, Precocio... ORPHA:361
Immunodeficiency, Common Variable, 1
Hepatomegaly, Lymphadenopathy, Decreased proportion of class-switched memory B cells, B lymphocyt... OMIM:607594
Autoinflammation With Episodic Fever And Lymphadenopathy
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, Splenomegaly, Microcytic anemia OMIM:618852
Nephronophthisis 19
Hepatomegaly, Cholestasis, Bile duct proliferation, Splenomegaly, Hepatic fibrosis, Malformation ... OMIM:616217
Cholestasis, Progressive Familial Intrahepatic, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Portal fibrosis, Hepatomegaly, Elevated circulatin... OMIM:602347
Complete Androgen Insensitivity Syndrome
Blind vagina, Female external genitalia in individual with 46,XY karyotype, Male infertility, Del... ORPHA:99429
Symptomatic Form Of Hfe-Related Hemochromatosis
Cirrhosis, Hepatomegaly, Erectile dysfunction, Hepatocellular carcinoma, Chronic hepatic failure,... ORPHA:465508
Idiopathic Pulmonary Hemosiderosis
Hepatomegaly, Reticular pattern on pulmonary HRCT, Iron deficiency anemia, Cardiomegaly, Hepatosp... ORPHA:99931
Gaucher Disease Type 2
Recurrent respiratory infections, Hepatomegaly, Splenomegaly ORPHA:77260
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Cirrhosis, Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentratio... OMIM:616860
Functioning Gonadotropic Adenoma
Delayed puberty, Impotence, Ovarian cyst, Decreased female libido, Decreased response to growth h... ORPHA:91348
Beta-Thalassemia
Hepatomegaly, Anemia, Cholelithiasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Splenomegaly... ORPHA:848
Cholestasis, Progressive Familial Intrahepatic, 10
Jaundice, Portal fibrosis, Hepatomegaly, Elevated circulating alanine aminotransferase concentrat... OMIM:619868
45,X/46,Xy Mixed Gonadal Dysgenesis
Delayed puberty, Ambiguous genitalia, male, Bifid scrotum, Hypospadias, Azoospermia, Urogenital s... ORPHA:1772
Galactose Epimerase Deficiency
Jaundice, Splenomegaly, Hepatomegaly ORPHA:79238
Ciliary Dyskinesia, Primary, 34
Absent central microtubular pair morphology of respiratory motile cilia, Male infertility, Immoti... OMIM:617091
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cardiac-Urogenital Syndrome
Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotum, Coronary sinus enlargement, Dy... OMIM:618280
Immunodeficiency 54
Hepatomegaly, Lymphadenopathy, Adrenocorticotropic hormone excess, Splenomegaly, Recurrent respir... OMIM:609981
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Enlarged kidney, Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Leukopenia, Extramedullary... OMIM:615285
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Delayed puberty, Ambiguous genitalia, male, Absence of secondary sex characteristics, Precocious ... ORPHA:90793
48,Xxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96263
Immunodeficiency, Common Variable, 2
Hepatomegaly, Lymphadenopathy, Recurrent bronchitis, Abnormal T cell count, Recurrent sinusitis, ... OMIM:240500
Congenital Disorder Of Glycosylation, Type Iio
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase con... OMIM:616828
Autoimmune Lymphoproliferative Syndrome, Type Iii
Autoimmune hemolytic anemia, Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Recurren... OMIM:615559
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Splenomegaly, Recurrent upper respiratory tract infe... OMIM:252920
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Hepatomegaly, Lymphadenopathy, Recurrent respiratory infections, Decreased proportion of class-sw... OMIM:619375
Infantile Sialic Acid Storage Disease
Hepatomegaly, Vacuolated lymphocytes, Ascites, Splenomegaly, Cardiomegaly OMIM:269920
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Recurrent respiratory i... OMIM:618495
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, Portal hyper... OMIM:617068
Sickle Cell Disease
Jaundice, Hepatomegaly, Cholelithiasis, Splenic infarction, Leukocytosis, Target cells, Splenomeg... OMIM:603903
Bile Acid Synthesis Defect, Congenital, 5
Jaundice, Portal fibrosis, Iron deficiency anemia, Hepatomegaly, Elevated circulating hepatic tra... OMIM:616278
Red Cell Phospholipid Defect With Hemolysis
Intermittent jaundice, Splenomegaly, Reticulocytosis OMIM:179700
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Pneumonia, Hepatomegaly, Genital ulcers, Aplasia of the thymus, B lymphocytopenia, Eosinophilia, ... OMIM:602450
Sclerosing Cholangitis, Neonatal
Cirrhosis, Jaundice, Portal fibrosis, Hepatomegaly, Sclerosing cholangitis, Acholic stools, Chole... OMIM:617394
Meacham Syndrome
Abnormal lung lobation, Hydrometrocolpos, Situs inversus totalis, Transposition of the great arte... ORPHA:3097
Gray Platelet Syndrome
Thrombocytopenia, Splenomegaly, Abnormality of the menstrual cycle ORPHA:721
Hemoglobin C-Beta-Thalassemia Syndrome
Splenomegaly, Anemia, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Immunodeficiency 64 With Lymphoproliferation
Autoimmune hemolytic anemia, Cervical lymphadenopathy, Mediastinal lymphadenopathy, Lymphadenopat... OMIM:618534
Ataxia-Pancytopenia Syndrome
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Acute myelomonocytic leukemia, Hypopl... ORPHA:2585
Glycosylphosphatidylinositol Biosynthesis Defect 1
Portal vein thrombosis, Hepatomegaly, Splenomegaly, Portal hypertension OMIM:610293
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Neona... OMIM:214900
Ciliary Dyskinesia, Primary, 53
Abdominal situs inversus, Situs inversus totalis, Perimembranous ventricular septal defect, Paten... OMIM:620642
Galactosemia Iii
Jaundice, Splenomegaly, Hepatomegaly OMIM:230350
49,Xxxxy Syndrome
Azoospermia, Hypoplasia of penis, Infertility, Decreased testicular size, Type II diabetes mellit... ORPHA:96264
Congenital Pulmonary Lymphangiectasia
Hepatomegaly, Chylopericardium, Pleural effusion, Ascites, Pulmonic stenosis, Splenomegaly ORPHA:2414
Pfapa Syndrome
Splenomegaly, Hepatomegaly, Recurrent pharyngitis, Lymphadenopathy ORPHA:42642
Alpha-Thalassemia
Anisopoikilocytosis, Hemoglobin Barts, Jaundice, Anemia, Cholelithiasis, Pleural effusion, Reticu... ORPHA:846
Microphthalmia, Syndromic 9
Multilobulated spleen, Bilateral lung agenesis, Hypoplastic left atrium, Truncus arteriosus, Pulm... OMIM:601186
Progressive Familial Intrahepatic Cholestasis
Jaundice, Cholestasis, Splenomegaly, Hepatomegaly ORPHA:172
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:86893
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hepatomegaly, Jaundice, Hemophagocytosis, Anemia, Lymphadenopathy, Thrombocytopenia, Splenomegaly... OMIM:603552
Meacham Syndrome
Blind vagina, Enlarged kidney, Transposition of the great arteries, Cardiac total anomalous pulmo... OMIM:608978
Ring Chromosome 22 Syndrome
Azoospermia ORPHA:1446
Tonne-Kalscheuer Syndrome
Hypospadias, Decreased testicular size, Abnormal heart morphology, Pulmonary hypoplasia, Cryptorc... OMIM:300978
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Pancytopenia, Splenomegaly, Recurrent respirator... OMIM:300635
8P11.2 Deletion Syndrome
Azoospermia, Hypoplasia of penis, Abnormality of the hypothalamus-pituitary axis, Hypogonadism, P... ORPHA:251066
Bone Marrow Failure Syndrome 5
Anemia, Erythroid hypoplasia, Pure red cell aplasia, Hypogonadism, Pulmonary fibrosis, Testicular... OMIM:618165
Cholestasis, Progressive Familial Intrahepatic, 9
Jaundice, Intrahepatic cholestasis, Hepatomegaly, Fibro-obliterative bile-duct lesion, Portal hyp... OMIM:619849
Neurooculocardiogenitourinary Syndrome
Patent foramen ovale, Bilateral cryptorchidism, Cardiomegaly, Atrial septal defect, Ventricular s... OMIM:618652
Spinocerebellar Ataxia, Autosomal Recessive 21
Hepatomegaly, Hepatic bridging fibrosis, Splenomegaly, Hepatic fibrosis, Hepatic failure OMIM:616719
Activated Pi3K-Delta Syndrome
Hepatomegaly, Lymphadenopathy, Recurrent tonsillitis, B lymphocytopenia, Bronchiectasis, Recurren... ORPHA:397596
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Anemia, Acute myeloid leukemia, Hemophagocytosis, Pancytopenia, Elevated circulating hepatic tran... ORPHA:158057
Mast Cell Sarcoma
Hepatomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis, Splenomegaly ORPHA:66661
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Parachute mitral valve, Mesenteric cyst, Hypospadias, Patent foramen ovale,... OMIM:618316
Alpha-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Ascites, Splenomegaly ORPHA:100025
Serkal Syndrome
Abnormality of the adrenal glands, Hypospadias, Abnormal penis morphology, Pulmonic stenosis, Pul... ORPHA:139466
Cholesteryl Ester Storage Disease
Cirrhosis, Jaundice, Hepatomegaly, Splenomegaly, Adrenal calcification, Hepatic failure ORPHA:75234
Hurler-Scheie Syndrome
Hepatomegaly, Abnormal heart valve morphology, Abnormality of the tonsils, Cardiomyopathy, Spleno... ORPHA:93476
Immunodeficiency 84
B lymphocytopenia, Splenomegaly OMIM:619437
Immunodeficiency 27A
Anemia, Thrombocytosis, Lymphadenopathy, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Pneumoni... OMIM:209950
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Hepatomegaly, Leukopenia, Splenomegaly, Lymphopenia, Recurrent respiratory infections, Ventricula... OMIM:620210
Spondylometaphyseal Dysplasia, Axial
Recurrent pneumonia, Reduced sperm motility, Splenomegaly OMIM:602271
Caspase 8 Deficiency
Lymphadenopathy, Splenomegaly, Recurrent sinopulmonary infections, Pneumonia, Decreased CD4:CD8 r... OMIM:607271
Dyskeratosis Congenita, Autosomal Recessive 2
Cirrhosis, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Testicular atrophy OMIM:613987
Familial Atrial Myxoma
Jaundice, Bacterial endocarditis, Cardiac myxoma, Cholestasis, Ascites, Pulmonic valve myxoma, Ca... ORPHA:615
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hepatomegaly, Anemia, Thrombocytopenia, Splenomegaly, Hypersplenism OMIM:610539
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Immunodeficiency 69
Anemia, Hemophagocytosis, Pancytopenia, Leukocytosis, Hepatosplenomegaly, Splenomegaly, Thrombocy... OMIM:618963
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Pulmonary Hypoplasia, Primary
Pulmonary hypoplasia OMIM:265430
Anemia, Congenital Dyserythropoietic, Type Ib
Jaundice, Anemia, Hepatomegaly, Anemia of inadequate production, Reticulocytosis, Poikilocytosis,... OMIM:615631
Mu-Heavy Chain Disease
Hepatomegaly, Anemia, Lymphadenopathy, Splenomegaly, Abnormal B cell count ORPHA:100024
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Hepatomegaly, Anemia, Splenomegaly, Recurrent upper respiratory tract infections, Interstitial pn... OMIM:620296
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Lymphadenopathy, B lymphocytopenia, Recurrent pneumonia, Splenomegaly, Intermittent thrombocytope... OMIM:150550
Neuraminidase Deficiency
Hepatomegaly, Vacuolated lymphocytes, Bone-marrow foam cells, Cardiomyopathy, Ascites, Splenomega... OMIM:256550
Immunodeficiency 32B
Hepatomegaly, Anemia, Monocytopenia, Bronchiectasis, Neutrophilia, Thrombocytopenia, Splenomegaly... OMIM:226990
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Portal hypertension, Thrombocytopenia, Splenomegaly, Usual int... OMIM:620367
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Pulmonary hypoplasia, Testicular atrophy OMIM:601163
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Bilateral lung agenesis, Hypospadias, Ovotestis, Pulmonary artery stenosis, Congenital pulmonary ... OMIM:611812
Renal Hypodysplasia/Aplasia 4
Pulmonary hypoplasia OMIM:619887
Beta-Thalassemia Intermedia
Decreased liver function, Anemia of inadequate production, Splenomegaly, Hypogonadism, Decreased ... ORPHA:231222
Proteus-Like Syndrome
Bronchogenic cyst, Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parat... ORPHA:2969
Immunodeficiency 7
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Splenomegaly, Hypereosinophilia, Recu... OMIM:615387
Ciliary Dyskinesia, Primary, 18
Absent outer dynein arms, Male infertility, Immotile sperm, Absent inner dynein arms OMIM:614874
Renal Hypodysplasia/Aplasia 2
Pulmonary hypoplasia OMIM:615721
Congenital Rubella Syndrome
Jaundice, Anemia, Hepatomegaly, Type I diabetes mellitus, Thrombocytopenia, Splenomegaly, Abnorma... ORPHA:290
Pentalogy Of Cantrell
Hypospadias, Abnormal pericardium morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Absent g... ORPHA:1335
Ghosal Hematodiaphyseal Dysplasia
Anemia, Splenomegaly ORPHA:1802
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Jaundice, Normochromic anemia, Cholelithiasis, Nonspherocytic hemolytic anemia... OMIM:235700
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Hypochromic microcytic anemia, HbS hemoglobin, Splenic infarction, Persistence of hemoglobin F, R... ORPHA:251380
Pagod Syndrome
Situs inversus totalis, Abnormal testis morphology, Pulmonary artery hypoplasia, Female pseudoher... ORPHA:991
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infections OMIM:619170
Cholestasis-Lymphedema Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Abnormality of the lymphatic system, Portal hypertension, Bili... ORPHA:1414
Osteopetrosis, Autosomal Dominant 3
Hepatomegaly, Anemia, Splenomegaly, Hyperparathyroidism OMIM:618107
Cholesteryl Ester Storage Disease
Leukopenia, Splenomegaly, Acute hepatic failure, Hepatic steatosis, Increased hepatic echogenicit... OMIM:278000
Myotonic Dystrophy 1
Cholelithiasis, Testicular atrophy, Hypogonadism OMIM:160900
Lipodystrophy, Congenital Generalized, Type 3
Hepatomegaly, Hepatosplenomegaly, Splenomegaly, Primary amenorrhea, Diabetes mellitus, Hepatic st... OMIM:612526
Congenital Disorder Of Glycosylation, Type Iij
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly, R... OMIM:613489
Transaldolase Deficiency
Decreased liver function, Atrial septal defect, Cirrhosis, Hepatomegaly, Anemia, Clitoral hypertr... OMIM:606003
Bile Acid Synthesis Defect, Congenital, 3
Cirrhosis, Jaundice, Intrahepatic cholestasis, Hepatomegaly, Acholic stools, Elevated circulating... OMIM:613812
Lymphoproliferative Syndrome 1
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Hemophagocytosis, Lymphadenopathy, Pancytopeni... OMIM:613011
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Splenomegaly, Intraalveolar phospholipid accumulation, Leukocytosis, Recurrent respiratory infect... OMIM:618042
Isolated Anencephaly
Thymus hyperplasia, Adrenal hypoplasia, Maternal diabetes ORPHA:563609
Lymphoproliferative Syndrome, X-Linked, 1
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Lymphocytosis, Re... OMIM:308240
Lymphoproliferative Syndrome 2
Aplastic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Ascites, Recurren... OMIM:615122
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal ventriculoarterial connection, Hepatomegaly, Maternal diabete... ORPHA:860
Babesiosis
Jaundice, Hepatomegaly, Recurrent pharyngitis, Leukopenia, Splenomegaly, Thrombocytopenia, Hemoly... ORPHA:108
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly, Congenital hypothyroidism ORPHA:88643
Ciliary Dyskinesia, Primary, 9
Absent outer dynein arms, Male infertility OMIM:612444
Portal Hypertension, Noncirrhotic, 2
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Hepatocellular carcinoma, ... OMIM:619463
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly OMIM:616452
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Neutropenia in presence of anti-neutropil antibodies, B lymphocytope... ORPHA:231154
Immunodeficiency, Common Variable, 7
Recurrent respiratory infections, Splenomegaly OMIM:614699
Renal Tubular Dysgenesis
Pulmonary hypoplasia, Tetralogy of Fallot ORPHA:3033
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesicular hepatic ste... OMIM:600649
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Jaundice, Cholelithiasis, Spontaneous hemolytic crises, Nonspherocytic hemolytic anemia, Impaired... OMIM:613470
Gillessen-Kaesbach-Nishimura Syndrome
Abnormal lung lobation, Periportal fibrosis, Bicornuate uterus, Abnormal heart morphology, Pulmon... OMIM:263210
Mogs-Cdg
Pulmonary edema, Hepatomegaly, External genital hypoplasia, Inappropriate antidiuretic hormone se... ORPHA:79330
Hepatoportal Sclerosis
Abnormal liver parenchyma morphology, Jaundice, Anemia, Elevated circulating hepatic transaminase... ORPHA:64743
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Enlarged kidney, Hepatomegaly, Periportal fibrosis, Portal hypertension, Pulmonary hypoplasia, Sp... OMIM:263200
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Normochromic anemia, Pancytopenia, Anemi... ORPHA:75564
Mulibrey Nanism
Hepatomegaly, Recurrent lower respiratory tract infections, Ascites, Pericardial constriction, My... OMIM:253250
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, B lymphocytopenia, Hypoplasia of the thymus, Severe B lymp... OMIM:603554
Meckel Syndrome, Type 6
Abnormal internal genitalia, Bile duct proliferation, Pulmonary hypoplasia, Cystic liver disease,... OMIM:612284
Ciliary Dyskinesia, Primary, 14
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Reduced sperm motil... OMIM:613807
Aicardi-Goutieres Syndrome 4
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Pancytopenia, Thrombocytop... OMIM:610333
Systemic-Onset Juvenile Idiopathic Arthritis
Hepatomegaly, Lymphadenopathy, Pleural effusion, Pericarditis, Splenomegaly ORPHA:85414
Felty Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Abnormal lymphocyte morp... ORPHA:47612
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:2141
X-Linked Sideroblastic Anemia
Elevated circulating hepatic transaminase concentration, Anemia, Splenomegaly ORPHA:75563
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Thrombocytopenia, Splenomegaly, Microcytic anemia, Neutropenia ORPHA:231401
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Microvesicular hepatic steatosis, Decreased carnitine level in liver, Cardiomyopath... OMIM:212140
Amyloidosis, Familial Visceral
Hepatomegaly, Cholestasis, Splenomegaly OMIM:105200
Glycogen Storage Disease Ixc
Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Increased hepat... OMIM:613027
Classic Galactosemia
Delayed puberty, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, M... ORPHA:79239
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Anterior hypopituitarism, Oligozoospermia, Panhypopituitarism, Hyperpit... ORPHA:91351
Cardiomyopathy, Familial Hypertrophic, 4
Pulmonary edema, Hepatomegaly, Ventricular septal hypertrophy, Muscular ventricular septal defect... OMIM:115197
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Chronic hemolytic anemia, Anemia, Reduced red cell pyruvate kinase level, Reticulocytosis, Poikil... ORPHA:766
Pyruvate Kinase Deficiency Of Red Cells
Chronic hemolytic anemia, Jaundice, Reduced red cell pyruvate kinase level, Cholelithiasis, Hepat... OMIM:266200
H Syndrome
Delayed puberty, Azoospermia, Decreased testicular size, Hypogonadism, Amenorrhea, Diabetes melli... ORPHA:168569
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Adrenal hypoplasia, Pulmonary hypoplasia OMIM:613124
Hemoglobin E Disease
Hypochromic microcytic anemia, Increased red blood cell count, Drug-sensitive hemolytic anemia, H... ORPHA:2133
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Anemia, Reduced hematocrit, Hypospadias, Anemia of inadequate production, Persisten... OMIM:613673
Spherocytosis, Type 1
Jaundice, Cholelithiasis, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:182900
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Lymphadenopathy, Recurrent tonsillitis, Acute pancreatitis, Lymphadenitis, Pleural effusion, Recu... OMIM:618935
Timothy Syndrome
Cardiomegaly, Bronchitis, Patent foramen ovale, Hypothyroidism, Tetralogy of Fallot, Pneumonia, V... OMIM:601005
Deafness-Lymphedema-Leukemia Syndrome
Acute leukemia, Hepatomegaly, Lymphadenopathy, Abnormal neutrophil count, Myeloproliferative diso... ORPHA:3226
Acrocephalopolydactylous Dysplasia
Enlarged kidney, Hepatomegaly, Extrapulmonary lobar sequestration, Ascites, Pulmonary hypoplasia,... OMIM:200995
Truncus Arteriosus
Abnormal lung lobation, Pulmonary edema, Adrenocortical abnormality, Transposition of the great a... ORPHA:3384
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy, Impotence ORPHA:85447
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Hepatomegaly, Lymphadenopathy, Azoospermia... OMIM:602782
Immunodeficiency 60 And Autoimmunity
Decreased basophil count, Pancytopenia, Recurrent sinopulmonary infections, Splenomegaly, Pulmona... OMIM:618394
Glycogen Storage Disease Ixb
Hepatomegaly, Splenomegaly, Increased hepatic glycogen content OMIM:261750
Combined Oxidative Phosphorylation Deficiency 10
Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly OMIM:614702
Niemann-Pick Disease, Type A
Sea-blue histiocytosis, Hepatomegaly, Lymphadenopathy, Bone-marrow foam cells, Ascites, Elevated ... OMIM:257200
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Pulmonary hypoplasia, Hyposegmentation of neutrop... ORPHA:250999
Cholestasis, Progressive Familial Intrahepatic, 1
Cirrhosis, Jaundice, Hepatomegaly, Cholelithiasis, Intrahepatic cholestasis with episodic jaundic... OMIM:211600
Double Outlet Left Ventricle
Pulmonary valve atresia, Tricuspid atresia, Double outlet left ventricle, Ventricular septal defe... ORPHA:3427
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Cardiomegaly, Hepatomegaly, Elevated circulating hepatic transaminase concentration OMIM:619064
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Pulmonary hypoplasia OMIM:619003
Spherocytosis, Type 5
Jaundice, Abnormal platelet count, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia... OMIM:612690
Pparg-Related Familial Partial Lipodystrophy
Cirrhosis, Hepatomegaly, Pancreatitis, Maternal diabetes, Secondary amenorrhea, Hypertrophic card... ORPHA:79083
Gaucher Disease Type 1
Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Cho... ORPHA:77259
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Abnormal lung lobation, Pulmonary hypoplasia ORPHA:2631
Gaucher Disease, Type I
Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, Aortic valve sten... OMIM:230800
Erythrocytosis, Familial, 8
Reduced erythrocyte bisphosphoglycerate mutase activity, Polycythemia, Increased circulating hemo... OMIM:222800
Tafro Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Pleural effusion, Leukocytosis, Ascites, Thrombocytopenia,... ORPHA:457077
Wolman Disease
Hepatomegaly, Anemia, Bone-marrow foam cells, Ascites, Adrenal insufficiency, Splenomegaly, Adren... ORPHA:75233
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypospadias, Pleural effusion, Ascites, Hypertrophic cardiomyopathy, Pulmonary hypoplasia, Cardio... OMIM:616897
Lethal Congenital Contracture Syndrome 10
Hypoplasia of the thymus, Pulmonary hypoplasia, Cardiomegaly, Overriding aorta, Ventricular septa... OMIM:617022
Thrombocythemia 1
Thrombocytosis, Splenomegaly OMIM:187950
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Abnormal atrioventricular valve morphology, Aortic valve stenosis, Mitral valve prolapse, Cardiom... ORPHA:324410
Legionnaires Disease
Myocarditis, Jaundice, Pancreatitis, Lymphadenopathy, Recurrent pharyngitis, Bone marrow hypocell... ORPHA:549
Hb Bart'S Hydrops Fetalis
Hepatomegaly, Anemia, Pericarditis, Splenomegaly, Abnormal hemoglobin ORPHA:163596
Kaposiform Lymphangiomatosis
Enlarged kidney, Anemia, Abnormality of the lymphatic system, Abnormal spleen morphology, Abnorma... ORPHA:464329
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Pulmonary hypoplasia OMIM:615228
Adams-Oliver Syndrome 6
Truncus arteriosus, Portal hypertension, Splenomegaly, Hepatic fibrosis, Ventricular septal defect OMIM:616589
Cholestasis, Progressive Familial Intrahepatic, 2
Cirrhosis, Intrahepatic cholestasis, Hepatomegaly, Hepatocellular carcinoma, Intermittent jaundic... OMIM:601847
Congenital Myopathy 8
Cardiomegaly OMIM:618654
Neonatal Ichthyosis-Sclerosing Cholangitis Syndrome
Jaundice, Hepatomegaly, Cholestasis, Portal hypertension, Splenomegaly ORPHA:59303
Cardiomyopathy, Familial Hypertrophic, 27
Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat... OMIM:618052
Schnitzler Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Leukocytosis, Splenomegaly ORPHA:37748
Immunodeficiency 114, Folate-Responsive
Hepatomegaly, Recurrent lower respiratory tract infections, Megaloblastic anemia, Thrombocytopeni... OMIM:620603
Leukocyte Adhesion Deficiency, Type Iii
Hepatomegaly, Abnormal lymph node morphology, Anemia, Leukocytosis, Hepatosplenomegaly, Splenomeg... OMIM:612840
Scimitar Syndrome
Pneumothorax, Bronchogenic cyst, Atrial septal defect, Tricuspid atresia, Dextrocardia, Pulmonary... ORPHA:185
Indolent Systemic Mastocytosis
Hepatomegaly, Increased proportion of CD25+ mast cells, Lymphadenopathy, Mastocytosis, Splenomega... ORPHA:98848
Autoimmune Lymphoproliferative Syndrome
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Neutropenia in presence of ant... OMIM:601859
Neonatal Lupus Erythematosus
Aplastic anemia, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, P... ORPHA:398124
Heterotaxy, Visceral, 1, X-Linked
Enlarged kidney, Biliary atresia, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transp... OMIM:306955
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Hepatomegaly, Anemia, Pancreatitis, Cardiomyopathy, Thrombocytopenia, Splenomegaly, Neutropenia ORPHA:79312
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hepatomegaly, Chronic hemolytic anemia, Atelectasis, Microvesicular hepatic steatosis, Ventricula... OMIM:618278
Dehydrated Hereditary Stomatocytosis 2
Anisopoikilocytosis, Jaundice, Hepatomegaly, Increased mean corpuscular hemoglobin concentration,... OMIM:616689
Sézary Syndrome
Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte morphology, Splenomegaly, Abnormal pleura morp... ORPHA:3162
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Mediastinal lymphadenopathy, Hemophagocytosis, Decreased proportion ... OMIM:619802
Gaucher Disease, Type Iiic
Hepatomegaly, Pancytopenia, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Aromatase Deficiency
Male infertility, Macroorchidism, postpubertal, Enlarged polycystic ovaries, Hypergonadotropic hy... ORPHA:91
Teebi Hypertelorism Syndrome 1
Bicornuate uterus, Pulmonary hypoplasia, Shawl scrotum, Atrial septal defect, Ventricular septal ... OMIM:145420
Uruguay Faciocardiomusculoskeletal Syndrome
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Ventricular hyp... OMIM:300280
Bile Acid Synthesis Defect, Congenital, 1
Cirrhosis, Jaundice, Intrahepatic cholestasis, Giant cell hepatitis, Hepatomegaly, Elevated circu... OMIM:607765
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... OMIM:616100
Agammaglobulinemia 8B, Autosomal Recessive
Anemia, Pancytopenia, B lymphocytopenia, Increased proportion of effector memory CD8-positive, al... OMIM:619824
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hepatomegaly, Abnormal fallopian tube morphology, Pancreatic lymphangiectasis, Ventricular septal... ORPHA:1655
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Jaundice, Hepatomegaly, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Incr... OMIM:194380
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram... ORPHA:555874
Cirrhotic Cardiomyopathy
Left atrial enlargement, Pulmonary edema, Cirrhosis, Jaundice, Hepatomegaly, Ascites, Right atria... ORPHA:57777
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Hepatomegaly, Anemia, Lymphadenopathy, Recurrent respiratory infecti... ORPHA:100026
Immunodeficiency 36 With Lymphoproliferation
Recurrent lower respiratory tract infections, Chronic lymphatic leukemia, B lymphocytopenia, Incr... OMIM:616005
Lethal Congenital Contracture Syndrome 11
Pulmonary hypoplasia OMIM:617194
Omenn Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Thyroiditis, Abnormal lymphocyte morphology, Leukocytosis,... ORPHA:39041
Bloom Syndrome
Cryptorchidism, Decreased fertility in females, Type II diabetes mellitus, Azoospermia OMIM:210900
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Pulmonary hypoplasia, Splenomegaly ORPHA:3035
Dominant Beta-Thalassemia
Delayed puberty, Splenomegaly, Decreased mean corpuscular volume, Adrenal insufficiency, Jaundice... ORPHA:231226
Kagami-Ogata Syndrome
Hepatomegaly, Pulmonic stenosis, Pulmonary hypoplasia, Splenomegaly, Atrial septal defect, Ventri... OMIM:608149
Coenzyme Q10 Deficiency, Primary, 8
Pulmonary hypoplasia, Left ventricular hypertrophy OMIM:616733
Common Variable Immunodeficiency
Pneumonia, Emphysema, Lymphadenopathy, Recurrent respiratory infections, Elevated circulating hep... ORPHA:1572
Wilson Disease
Cirrhosis, Jaundice, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentratio... ORPHA:905
Bile Acid Synthesis Defect, Congenital, 2
Jaundice, Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepa... OMIM:235555
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Mediastinal lymphadenopathy, Hepatomegaly, Thrombocytopenia, Splenomegaly ORPHA:158029
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Abnormal heart morphology, Pulmonary hypoplasia, Tetralogy of Fallot, Mi... ORPHA:2847
Osteopetrosis, Autosomal Recessive 8
Thrombocytopenia, Hepatomegaly, Anemia, Splenomegaly OMIM:615085
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Recurrent lower respiratory tract inf... ORPHA:436159
Wolfram Syndrome 1
Diabetes insipidus, Megaloblastic anemia, Cardiomyopathy, Hypothyroidism, Sideroblastic anemia, T... OMIM:222300
Leishmaniasis
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... ORPHA:507
Neurodevelopmental Disorder With Spasticity, Hypomyelinating Leukodystrophy, And Brain Abnormalities
Pulmonary hypoplasia OMIM:616531
Adult-Onset Still Disease
Myocarditis, Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase con... ORPHA:829
Thrombocytopenia With Beta-Thalassemia, X-Linked
Reticulocytosis, Reduced platelet alpha granules, Increased mean platelet volume, Thrombocytopeni... OMIM:314050
Fish-Eye Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy ORPHA:79292
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Griscelli Syndrome Type 2
Jaundice, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, Pancytopenia, Splenomegaly, Neutropenia ORPHA:79477
Harderoporphyria
Hepatomegaly, Reticulocytosis, Prolonged neonatal jaundice, Splenomegaly, Hemolytic anemia OMIM:618892
Ornithine Transcarbamylase Deficiency
Splenomegaly, Hepatic failure ORPHA:664
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Delayed puberty, Hepatocellular adenoma, Cirrhosis, Portal fibrosis, Hepatomegaly, Anemia, Elevat... ORPHA:264580
Generalized Glucocorticoid Resistance Syndrome
Abnormal circulating testosterone concentration, Infertility, Oligozoospermia, Increased urinary ... ORPHA:786
Caroli Disease
Cirrhosis, Intrahepatic cholestasis, Jaundice, Cholangitis, Cholelithiasis, Hepatomegaly, Liver a... ORPHA:53035
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hepatomegaly, Anemia, Erythroid hypoplasia, Recurrent lower respiratory tract infections, Recurre... OMIM:612541
Maternal Uniparental Disomy Of Chromosome 2
Respiratory infections in early life, Decreased response to growth hormone stimulation test, Prem... ORPHA:96179
Gaucher Disease, Type Iii
Hepatomegaly, Thrombocytopenia, Splenomegaly, Pancytopenia OMIM:231000
Glycogen Storage Disease Ixa1
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Splenomegaly OMIM:306000
Q Fever
Myocarditis, Pneumonia, Hepatomegaly, Anemia, Lymphadenopathy, Abnormal pulmonary interstitial mo... ORPHA:781
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect, Ambiguous genitalia, Pancreatic fibrosis, Pulmonary hypoplasia OMIM:615503
Pallister-Hall-Like Syndrome
Pulmonary hypoplasia, Anterior hypopituitarism, Micropenis OMIM:241800
Budd-Chiari Syndrome
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Ascit... ORPHA:131
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Beta-Thalassemia Major
Delayed puberty, Anemia of inadequate production, Splenomegaly, Decreased mean corpuscular volume... ORPHA:231214
Typhoid
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly ORPHA:99745
Ciliary Dyskinesia, Primary, 19
Absent inner and outer dynein arms, Male infertility OMIM:614935
Poems Syndrome
Hepatomegaly, Erectile dysfunction, Lymphadenopathy, Abnormality of the endocrine system, Pleural... ORPHA:2905
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Familial Partial Lipodystrophy, Dunnigan Type
Hepatomegaly, Pancreatitis, Secondary amenorrhea, Hypertrophic cardiomyopathy, Dysmenorrhea, Sple... ORPHA:2348
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Patent foramen ovale, Pulmonary hypoplasia OMIM:616867
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly, Decreased circulating cortisol level, Anemia OMIM:618838
Primary Myelofibrosis
Hepatomegaly, Anemia, Thrombocytosis, Lymphadenopathy, Pancytopenia, Leukocytosis, Portal hyperte... ORPHA:824
Autosomal Recessive Polycystic Kidney Disease
Enlarged kidney, Cholestasis, Ascites, Biliary hyperplasia, Splenomegaly, Abnormal intrahepatic b... ORPHA:731
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Hepatomegaly, Pancreatic lymphangiectasis, Ventricular septal defect, Ascites, Splenomegaly, Pulm... OMIM:235255
Gaucher Disease, Perinatal Lethal
Hepatomegaly, Anemia, Ascites, Thrombocytopenia, Hepatosplenomegaly, Splenomegaly, Pulmonary hypo... OMIM:608013
Infantile Liver Failure Syndrome 3
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Hep... OMIM:618641
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Jaundice, Hepatomegaly, Sclerosing cholangitis, Intrahepatic biliary atresia, Cholestasis, Portal... OMIM:607626
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly, Recurrent pneumonia ORPHA:3137
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Hepatomegaly, Splenomegaly, Lymphadenopathy ORPHA:391
Hypocomplementemic Urticarial Vasculitis
Hepatomegaly, Emphysema, Lymphadenopathy, Abnormal heart valve morphology, Pleural effusion, Asci... ORPHA:36412
Cold Agglutinin Disease
Splenomegaly, Hepatomegaly, Lymphadenopathy, Hemolytic anemia ORPHA:56425
Mucopolysaccharidosis, Type Iiia
Asymmetric septal hypertrophy, Hepatomegaly, Splenomegaly, Recurrent upper respiratory tract infe... OMIM:252900
Overhydrated Hereditary Stomatocytosis
Decreased mean corpuscular hemoglobin concentration, Intermittent jaundice, Reticulocytosis, Abno... ORPHA:3203
Adams-Oliver Syndrome 5
Patent foramen ovale, Right atrial enlargement, Portal vein thrombosis, Pulmonic stenosis, Spleno... OMIM:616028
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Jaundice, Hepatomegaly, Anemia of inadequate production, Exocrine pancreatic insufficiency, Splen... OMIM:612714
Attrv122I Amyloidosis
Anemia, Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv... ORPHA:85451
Isolated Biliary Atresia
Decreased liver function, Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transam... ORPHA:30391
Autoinflammatory Disease, Systemic, With Vasculitis
Jaundice, Hepatomegaly, Anemia, Congenital hydrocele, Parotitis, Increased B cell count, Cholesta... OMIM:620376
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Decreased liver function, Hepatomegaly, Elevated circulating hepatic transaminase concentration, ... ORPHA:42
Macrocephaly/Autism Syndrome
Hepatomegaly, Splenomegaly, Lymphopenia, Penile freckling, Hydrocele testis OMIM:605309
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hepatomegaly, Periportal fibrosis, Hypertrophic cardiomyopathy, Hepatocellular necrosis, Cardiome... OMIM:201475
Neurodegeneration And Seizures Due To Copper Transport Defect
Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Cardiomegaly OMIM:620306
Felty Syndrome
Splenomegaly, Neutropenia OMIM:134750
Pseudo-Torch Syndrome 3
Anemia, Lymphadenitis, Leukocytosis, Cardiomegaly, Congenital thrombocytopenia OMIM:618886
Polycythemia Vera
Increased red blood cell mass, Leukocytosis, Increased circulating hemoglobin concentration, Thro... OMIM:263300
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Hepatomegaly, Hemophagocytosis, Lymphadenopathy, B lymphocytopenia, ... OMIM:301078
Aarskog-Scott Syndrome
Delayed puberty, Bilateral cryptorchidism, Elevated circulating follicle stimulating hormone leve... OMIM:305400
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Hepatomegaly, Iron deficiency anemia, Lymphadenopathy, Neutropenia i... OMIM:603909
Spherocytosis, Type 4
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Hemolytic anemia OMIM:612653
Cortical Dysplasia, Complex, With Other Brain Malformations 9
Pulmonary hypoplasia OMIM:618174
Chronic Myeloid Leukemia
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... ORPHA:521
Hereditary Spherocytosis
Jaundice, Hepatomegaly, Anemia, Cholelithiasis, Spontaneous hemolytic crises, Increased mean corp... ORPHA:822
Dehydrated Hereditary Stomatocytosis
Macrocytic anemia, Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Increased... ORPHA:3202
Parenteral Nutrition-Associated Cholestasis
Cirrhosis, Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chole... ORPHA:567983
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Splenomegaly, Pancytopenia OMIM:614979
Immunodeficiency, Common Variable, 8, With Autoimmunity
Autoimmune hemolytic anemia, Lymphadenopathy, Recurrent respiratory infections, Pancytopenia, Dec... OMIM:614700
Marden-Walker Syndrome
Dextrocardia, Hypospadias, Pulmonary hypoplasia, Cryptorchidism, Micropenis OMIM:248700
Bloom Syndrome
Premature ovarian insufficiency, Male infertility, Azoospermia, Oligozoospermia, Diabetes mellitus ORPHA:125
Familial Mediterranean Fever
Hepatomegaly, Pleuritis, Pleural effusion, Leukocytosis, Pericarditis, Neutrophilia, Splenomegaly... OMIM:249100
Congenital Disorder Of Glycosylation, Type It
Delayed puberty, Decreased serum insulin-like growth factor 1, Hepatomegaly, Intrahepatic cholest... OMIM:614921
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hepatomegaly, Decreased testicular size, Splenomegaly, Hypogonadism, Decreased serum testosterone... OMIM:201100
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Ambiguous genitalia, Ventricular septal defect, Pulmonary hypoplasia OMIM:617895
Primary Pulmonary Hypoplasia
Pneumothorax, Dextrocardia, Secundum atrial septal defect, Pulmonary hypoplasia, Recurrent respir... ORPHA:2257
Griscelli Syndrome
Jaundice, Hepatomegaly, Lymphadenopathy, Ascites, Bone marrow hypocellularity, Leukopenia, Spleno... ORPHA:381
Spherocytosis, Type 2
Jaundice, Spherocytosis, Reticulocytosis, Splenomegaly, Acanthocytosis, Hemolytic anemia OMIM:616649
Thrombocytopenia, Anemia, And Myelofibrosis
Anisopoikilocytosis, Thrombocytopenia, Anemia, Splenomegaly OMIM:617441
Gaucher Disease Type 3
Delayed puberty, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Pancytopenia, ... ORPHA:77261
Cutis Laxa, Autosomal Recessive, Type Ic
Atelectasis, Emphysema, Accessory spleen, Patent foramen ovale, Adrenal hypoplasia, Hypoplasia of... OMIM:613177
Mixed Connective Tissue Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal lymphadenopath... ORPHA:809
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Cholestatic liver disease, Cirrhosis, Hepatomegaly, Anemia, Lymphadenopathy, Accessory spleen, Mi... OMIM:619418
Prolidase Deficiency
Hepatomegaly, Anemia, Prolonged neonatal jaundice, Recurrent pneumonia, Thrombocytopenia, Splenom... OMIM:170100
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Thymus hyperplasia, Chylothorax OMIM:619036
Osteopetrosis, Autosomal Recessive 4
Hepatomegaly, Anemia, Reticulocytosis, Thrombocytopenia, Splenomegaly OMIM:611490
Overhydrated Hereditary Stomatocytosis
Jaundice, Hepatomegaly, Increased mean corpuscular volume, Reticulocytosis, Prolonged neonatal ja... OMIM:185000
Fetal Akinesia Deformation Sequence
Cryptorchidism, Pulmonary hypoplasia ORPHA:994
Immunodeficiency With Hyper-Igm, Type 1
Cirrhosis, Hepatomegaly, Recurrent lower respiratory tract infections, Sclerosing cholangitis, Ch... OMIM:308230
Syndromic Diarrhea
Bicuspid aortic valve, Cirrhosis, Hepatomegaly, Atrial septal defect, Ventricular septal defect, ... ORPHA:84064
Long-Olsen-Distelmaier Syndrome
Elevated circulating alanine aminotransferase concentration, Secundum atrial septal defect, Eleva... OMIM:620609
Glycogen Storage Disease Ii
Hepatomegaly, Pleural effusion, Splenomegaly, Cardiomegaly, Recurrent respiratory infections OMIM:232300
Distal Triplication 15Q
Abnormal external genitalia, Abnormal heart morphology, Pulmonary hypoplasia, Atrial septal defec... ORPHA:314588
Fetal Cytomegalovirus Syndrome
Jaundice, Anemia, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Thromboc... ORPHA:294
Alg3-Cdg
Decreased liver function, Cardiomyopathy, Pulmonary hypoplasia, Abnormality of the endocrine system ORPHA:79321
Myelofibrosis
Hepatomegaly, Hemophagocytosis, Myeloproliferative disorder, Splenomegaly, Extramedullary hematop... OMIM:254450
Fanconi Anemia
Hypospadias, Abnormal preputium morphology, Azoospermia, Patent ductus arteriosus, Decreased fert... ORPHA:84
Sandhoff Disease
Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Impotence OMIM:268800
Erythrocytosis, Familial, 1
Increased circulating hemoglobin concentration, Increased red blood cell mass, Splenomegaly, Incr... OMIM:133100
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Elevated circulating alani... OMIM:255120
Lymphatic Malformation 6
Intestinal lymphangiectasia, Chylothorax, Pleural effusion, Ascites, Hypothyroidism, Splenomegaly... OMIM:616843
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Hypothyroi... OMIM:617713
Autoimmune Hepatitis
Cirrhosis, Jaundice, Elevated circulating hepatic transaminase concentration, Sclerosing cholangi... ORPHA:2137
Fixed Subaortic Stenosis
Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ... ORPHA:3092
Cryohydrocytosis
Stomatocytosis, Splenomegaly, Hemolytic anemia, Reticulocytosis OMIM:185020
Meckel Syndrome 14
Pneumothorax, Aplasia of the uterus, Pulmonary hypoplasia, Ambiguous genitalia, Hepatic fibrosis,... OMIM:619879
Renal Hypodysplasia/Aplasia 1
Pulmonary hypoplasia, Bicornuate uterus, Vaginal atresia, Primary amenorrhea OMIM:191830
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Secondary amenorrhea, Hypergonadotropic hypogonadism, Primary am... OMIM:157640
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Splenomegaly, Pneumonia, Hemolytic anemia ORPHA:169090
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Cryptorchidism, Pulmonary hypoplasia, Supernumerary nipple OMIM:612530
Macrophage Activation Syndrome
Decreased liver function, Hepatomegaly, Anemia, Hemophagocytosis, Abnormal natural killer cell co... ORPHA:158061
Elliptocytosis 1
Elliptocytosis, Jaundice, Splenomegaly, Hemolytic anemia OMIM:611804
Immunodeficiency 10
Autoimmune hemolytic anemia, Hepatomegaly, Lymphadenopathy, Abnormal lymphocyte count, Recurrent ... OMIM:612783
Anemia, Congenital Dyserythropoietic, Type Ia
Hepatomegaly, Macrocytic dyserythropoietic anemia, Anemia of inadequate production, Bite cells, R... OMIM:224120
American Trypanosomiasis
Myocarditis, Hepatomegaly, Lymphadenopathy, Cardiomyopathy, Splenomegaly ORPHA:3386
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:619051
Genitopatellar Syndrome
Clitoral hypertrophy, Pulmonary hypoplasia, Small scrotum, Atrial septal defect, Cryptorchidism ORPHA:85201
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pulmonary hypoplasia OMIM:224410
Short-Rib Thoracic Dysplasia 12
Hepatomegaly, Atelectasis, Periportal fibrosis, Patent foramen ovale, Hypoplastic nipples, Ascite... OMIM:269860
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Hepatocellular adenoma, Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminas... ORPHA:79240
Chronic Granulomatous Disease
Liver abscess, Mediastinal lymphadenopathy, Hepatomegaly, Splenomegaly, Recurrent respiratory inf... ORPHA:379
Dyssegmental Dysplasia, Silverman-Handmaker Type
Abnormal heart morphology, Cryptorchidism, Pulmonary hypoplasia ORPHA:1865
Congenital Tracheomalacia
Pneumothorax, Emphysema, Cardiomegaly, Single ventricle, Ventricular septal defect, Bronchiectasi... ORPHA:95430
Mcleod Syndrome
Hepatomegaly, Cardiomyopathy, Elevated circulating alanine aminotransferase concentration, Spleno... OMIM:300842
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Abnormal testis morphology, Hypogo... ORPHA:85450
Brucellosis
Bronchitis, Pericarditis, Leukopenia, Splenomegaly, Myocarditis, Pneumonia, Thrombocytosis, Pulmo... ORPHA:1304
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Periportal fibro... OMIM:251880
Liver Disease, Severe Congenital
Left atrial enlargement, Elevated circulating hepatic transaminase concentration, Lymphocytosis, ... OMIM:619991
Caudal Regression Syndrome
Ambiguous genitalia, Cryptorchidism, Pulmonary hypoplasia, Maternal diabetes ORPHA:3027
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Hepatomegaly, Elevated circulating alanine aminotransferase concentration, Hypertrophic cardiomyo... ORPHA:308552
Glycogen Storage Disease Xii
Delayed puberty, Normocytic anemia, Jaundice, Hepatomegaly, Decreased erythrocyte fructose-1,6-bi... OMIM:611881
Chromosome 13Q33-Q34 Deletion Syndrome
Penoscrotal transposition, Hypospadias, Bifid scrotum, Pulmonic stenosis, Pulmonary hypoplasia, L... OMIM:619148
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Cardiomegaly, Adrenocortical carcinoma, Cardiomyopathy, Pancreatic... OMIM:130650
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Pulmonary hypoplasia OMIM:617468
Hermansky-Pudlak Syndrome 10
Abnormal pulmonary interstitial morphology, Hepatomegaly, Splenomegaly, Recurrent respiratory inf... OMIM:617050
Fucosidosis
Cardiomegaly, Abnormality of the gallbladder, Hypothyroidism, Hepatomegaly ORPHA:349
Primary Sclerosing Cholangitis
Elevated circulating hepatic transaminase concentration, Cholestasis, Ascites, Acute hepatic fail... ORPHA:171
Woodhouse-Sakati Syndrome
Delayed puberty, Premature ovarian insufficiency, Hypoplasia of the uterus, Decreased response to... ORPHA:3464
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Jaundice, Fava bean-induced hemolytic anemia, Leukocytosis, Reticulocytosis, Poikilocytosis, Prol... OMIM:300908
Paternal Uniparental Disomy Of Chromosome 6
Hepatomegaly, Ventricular septal defect, Precocious puberty, Cardiomegaly, Cryptorchidism, Labial... ORPHA:96191
Diaphragmatic Hernia 4, With Cardiovascular Defects
Hepatomegaly, Aortopulmonary window, Ventricular septal defect, Pulmonary artery hypoplasia, Pulm... OMIM:620025
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
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Lymphadenopathy, Recurrent pharyngitis, Pleuritis, Leukocytosis, Pericarditis, Splenomegaly, Peri... ORPHA:32960
Peroxisome Biogenesis Disorder 1A (Zellweger)
Clitoral hypertrophy, Hepatomegaly, Hypospadias, Intrahepatic biliary dysgenesis, Adrenal hypopla... OMIM:214100
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Autoimmune hemolytic anemia, Pulmonary pneumatocele, Hepatomegaly, Recurrent respiratory infectio... OMIM:620565
Cantu Syndrome
Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle OMIM:239850
Sarcoidosis, Susceptibility To, 1
Enlarged lacrimal glands, Abnormal pulmonary interstitial morphology, Hepatomegaly, Mediastinal l... OMIM:181000
Spondylospinal Thoracic Dysostosis
Pulmonary hypoplasia OMIM:601809
Thanatophoric Dysplasia
Atrial septal defect, Pulmonary hypoplasia ORPHA:2655
Niemann-Pick Disease, Type C2
Jaundice, Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundi... OMIM:607625
Mucopolysaccharidosis Type 7
Ascites, Splenomegaly, Abnormal pleura morphology, Recurrent respiratory infections, Hepatitis ORPHA:584
Lipodystrophy, Congenital Generalized, Type 2
Decreased fertility, Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic ... OMIM:269700
Meier-Gorlin Syndrome 7
Meconium peritonitis, Clitoral hypertrophy, Hypospadias, Breast aplasia, Ventricular septal defec... OMIM:617063
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased liver function, Delayed puberty, Cirrhosis, Hepatomegaly, Abnormal pulmonary interstiti... ORPHA:77293
Nephronophthisis 2
Situs inversus totalis, Enlarged kidney, Pulmonary hypoplasia OMIM:602088
Renal Agenesis
Aplasia/hypoplasia of the uterus, Absent vas deferens, Ventricular septal defect, Pulmonary hypop... ORPHA:411709
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia... OMIM:314390
Proteasome-Associated Autoinflammatory Syndrome 4
Autoimmune hemolytic anemia, Splenomegaly, Hepatomegaly, Lymphadenopathy OMIM:619183
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, C... OMIM:615895
Complete Atrioventricular Septal Defect
Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Recurrent pneum... ORPHA:1329
Coronary Arterial Fistula
Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st... ORPHA:2041
Autosomal Recessive Multiple Pterygium Syndrome
Absence of labia majora, Abnormal aortic valve morphology, Hypoplasia of penis, Pulmonary hypopla... ORPHA:2990
Hereditary Elliptocytosis
Jaundice, Cholelithiasis, Reticulocytosis, Poikilocytosis, Prolonged neonatal jaundice, Elliptocy... ORPHA:288
Congenital Myopathy 1B, Autosomal Recessive
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:255320
Absence Of The Pulmonary Artery
Pulmonary edema, Atrial septal defect, Cardiomegaly, Patent foramen ovale, Truncus arteriosus, Re... ORPHA:980
Alg9-Cdg
Abnormal lung lobation, Atrial septal defect, Enlarged kidney, Hepatomegaly, Periportal fibrosis,... ORPHA:79328
Hardikar Syndrome
Decreased liver function, Elevated circulating hepatic transaminase concentration, Intrahepatic b... OMIM:301068
Chops Syndrome
Patent foramen ovale, Ventricular septal defect, Aspiration pneumonia, Cryptorchidism, Splenomega... OMIM:616368
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Atelectasis, Pancreatitis, Splenic cyst, Patent foramen ovale, Pulmonary artery atresia, Hepatic ... OMIM:620371
Immunodeficiency 47
Normocytic anemia, Cirrhosis, Hepatomegaly, Elevated circulating hepatic transaminase concentrati... OMIM:300972
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hepatic fibrosis, Pulmonary hypoplasia, Hypospadias, Ascites OMIM:614091
Czeizel-Losonci Syndrome
Hypoplastic nipples, Pulmonary hypoplasia, Dextrocardia ORPHA:2437
Fryns Syndrome
Hypospadias, Bicornuate uterus, Pulmonary hypoplasia, Tetralogy of Fallot, Cryptorchidism, Abnorm... ORPHA:2059
Tetraamelia Syndrome 1
Absent external genitalia, Hypoplasia of the fallopian tube, Asplenia, Pulmonary hypoplasia, Vagi... OMIM:273395
Agnathia-Otocephaly Complex
Situs inversus totalis, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:202650
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Ventricular septal defect, Pulmonary hypoplasia, Ambiguous genitalia, Hepat... OMIM:263520
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Splenic cyst, Pancr... OMIM:610199
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent pneumonia, Splenomegaly, I... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent pneumonia, Splenomegaly, I... OMIM:233710
Granulomatous Disease, Chronic, X-Linked
Liver abscess, Hepatomegaly, Lymphadenopathy, Atelectasis, Pleural effusion, Lymphadenitis, Ascit... OMIM:306400
Larsen-Like Syndrome, Lethal Type
Pulmonary hypoplasia OMIM:245650
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomegaly, Pulmonary edema, Cardiomyopathy, Impotence OMIM:105210
Purine Nucleoside Phosphorylase Deficiency
Autoimmune hemolytic anemia, Recurrent lower respiratory tract infections, Neutropenia in presenc... OMIM:613179
Acute Panmyelosis With Myelofibrosis
Acute myeloid leukemia, Pancytopenia, Lymphocytosis, Bone marrow hypocellularity, Splenomegaly, A... ORPHA:86843
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Splenomegaly ORPHA:90037
Lipodystrophy, Congenital Generalized, Type 1
Cirrhosis, Hepatomegaly, Clitoral hypertrophy, Elevated circulating hepatic transaminase concentr... OMIM:608594
Multiple Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Jaundice, Hepatic periportal necrosis, Pulmonary hypoplasia, Hepatic steatosis OMIM:231680
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Pulmonary fibrosis, Neutrophilia, Splenomegaly, Hepatomegaly OMIM:612852
Severe Congenital Nemaline Myopathy
Pulmonary hypoplasia, Hypospadias, Micropenis ORPHA:171430
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Splenomegaly, Anemia, Hemophagocytosis, Pancytopenia OMIM:618398
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Jaundice, Recurrent respiratory infections, Bile duct proliferation, Polycystic liver disease, Pu... OMIM:208500
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Cardiomyopathy, Patent foramen ovale, Secundum atrial septal defect, Pulmonary hypoplasia OMIM:616866
Developmental And Epileptic Encephalopathy 95
Cardiomegaly, Hepatomegaly, Cryptorchidism OMIM:618143
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Liver abscess, Hepatomegaly, Lymphadenopathy, Lymphadenitis, Recurrent pneumonia, Splenomegaly, I... OMIM:233690
Multiple Pterygium Syndrome, X-Linked
Hypoplastic heart, Pulmonary hypoplasia OMIM:312150
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Enlarged kidney, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Macrovesi... OMIM:608836
Mosaic Trisomy 1
Pulmonary artery atresia, Pulmonary hypoplasia, Hepatic agenesis, Penile hypospadias, Ventricular... ORPHA:1692
Fucosidosis
Hepatomegaly, Vacuolated lymphocytes, Splenomegaly, Cardiomegaly, Recurrent respiratory infections OMIM:230000
Thoracoabdominal Syndrome
Ectopia cordis, Transposition of the great arteries, Pulmonary hypoplasia, Hypospadias OMIM:313850
Mckusick-Kaufman Syndrome
Transverse vaginal septum, Hydrometrocolpos, Rectovaginal fistula, Vesicovaginal fistula, Pulmona... OMIM:236700
Achondrogenesis Type 2
Pulmonary hypoplasia ORPHA:93296
Meckel Syndrome, Type 1
Ambiguous genitalia, male, External genital hypoplasia, Accessory spleen, Adrenal hypoplasia, Asp... OMIM:249000
Fryns Syndrome
Hypospadias, Chylothorax, Bifid scrotum, Bicornuate uterus, Ventricular septal defect, Pulmonary ... OMIM:229850
Gray Platelet Syndrome
Menorrhagia, Thrombocytopenia, Splenomegaly, Abnormal number of alpha granules OMIM:139090
Lesch-Nyhan Syndrome
Testicular atrophy OMIM:300322
Isolated Right Ventricular Hypoplasia
Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,... ORPHA:439
Immunodeficiency 31C
Autoimmune hemolytic anemia, Delayed puberty, Hepatomegaly, Impaired lymphocyte transformation wi... OMIM:614162
Hereditary Orotic Aciduria
Recurrent respiratory infections, Anemia, Splenomegaly ORPHA:30
Kikuchi-Fujimoto Disease
Myocarditis, Abnormal pulmonary interstitial morphology, Hepatomegaly, Anemia, Lymphadenopathy, A... ORPHA:50918
Mucopolysaccharidosis Type 3
Hepatomegaly, Abnormal aortic valve morphology, Cardiomegaly, Recurrent tonsillitis, Aspiration p... ORPHA:581
Atelosteogenesis, Type Ii
Pulmonary hypoplasia OMIM:256050
Hsd10 Disease, Infantile Type
Cardiomegaly, Hypertrophic cardiomyopathy ORPHA:391428
Glycogen Storage Disease Of Heart, Lethal Congenital
Pulmonary edema, Enlarged kidney, Cardiomyopathy, Pleural effusion, Hypertrophic cardiomyopathy, ... OMIM:261740
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Jaundice, Splenomegaly, Chronic lymphatic leukemia ORPHA:90033
Atelosteogenesis Type I
Pulmonary hypoplasia, Abnormal pancreatic duct morphology ORPHA:1190
Triosephosphate Isomerase Deficiency
Normocytic anemia, Jaundice, Chronic hemolytic anemia, Normochromic anemia, Macrocytic anemia, Ch... OMIM:615512
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Ogden Syndrome
Left atrial enlargement, Enlarged kidney, Cardiomegaly, Bicuspid aortic valve, Perimembranous ven... OMIM:300855
Congenital Diaphragmatic Hernia
Pulmonary hypoplasia ORPHA:2140
Niemann-Pick Disease, Type C1
Sea-blue histiocytosis, Hepatomegaly, Bone-marrow foam cells, Prolonged neonatal jaundice, Spleno... OMIM:257220
Multiple Pterygium Syndrome, Lethal Type
Hypoplastic heart, Pulmonary hypoplasia OMIM:253290
Dyskeratosis Congenita
Cirrhosis, Neoplasm of the pancreas, Hepatomegaly, Anemia, Abnormal testis morphology, Bone marro... ORPHA:1775
Familial Mediterranean Fever
Pancreatitis, Lymphadenopathy, Pleuritis, Leukocytosis, Ascites, Pericarditis, Acute hepatic fail... ORPHA:342
Familial Idiopathic Dilatation Of The Right Atrium
Hepatomegaly, Pleural effusion, Atrial septal dilatation, Abnormality of the hepatic vasculature,... ORPHA:1677
Aorta Coarctation
Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m... ORPHA:1457
Ectodermal Dysplasia And Immunodeficiency 2
Recurrent respiratory infections, Hepatomegaly, Aplasia of the sweat glands, Splenomegaly OMIM:612132
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Hypospadias, Hypoplastic left heart, Double outlet ... ORPHA:1596
Ciliary Dyskinesia, Primary, 1
Absent outer dynein arms, Male infertility OMIM:244400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Anomalous origin of left pulmonary artery from ascending aorta, Transpositi... ORPHA:99050
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, P... OMIM:615688
Mosaic Trisomy 16
Maternal diabetes, Hypospadias, Abnormal lung morphology, Abnormal heart morphology, Pulmonary hy... ORPHA:1708
Smith-Lemli-Opitz Syndrome
Cholestatic liver disease, Abnormal lung lobation, Cirrhosis, Hepatomegaly, Penoscrotal hypospadi... OMIM:270400
Gaucher Disease, Type Ii
Hepatomegaly, Anemia, Bronchiolitis, Recurrent aspiration pneumonia, Thrombocytopenia, Splenomegaly OMIM:230900
Oculocerebrorenal Syndrome Of Lowe
Delayed puberty, Abnormal circulating calcium-phosphate regulating hormone concentration, Diabete... ORPHA:534
Neutral Lipid Storage Disease With Myopathy
Hepatomegaly, Elevated circulating hepatic transaminase concentration, Chronic pancreatitis, Card... OMIM:610717
Diaphanospondylodysostosis
Enlarged kidney, Pulmonary hypoplasia, Abnormal liver lobulation OMIM:608022
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomegaly, Cardiomyopathy, Increased hepatic glycogen content OMIM:619259
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Pulmonary hypoplasia, Lymphopenia, Bronchiectasis, Interstitial emphysema OMIM:619708
Histiocytoid Cardiomyopathy
Pulmonary edema, Hepatomegaly, Cardiomegaly, Polycystic ovaries, Ventricular septal defect ORPHA:137675
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia, Chylothorax, Aortic valve stenosis, Hepatosplenomegaly, Splenom... OMIM:613563
Autoimmune Lymphoproliferative Syndrome
Lymphocytosis, Reticulocytosis, Bone marrow hypocellularity, Splenomegaly, Lymphopenia, Thyroid c... ORPHA:3261
Lethal Congenital Contracture Syndrome Type 1
Pulmonary hypoplasia ORPHA:1486
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Uterus didelphys, Pulmonary hypoplasia, Tetralogy of Fallot, Absent gallbladder, Septate vagina, ... OMIM:617925
Apolipoprotein C-Ii Deficiency
Hepatomegaly, Pancreatitis, Splenomegaly OMIM:207750
Gaucher Disease
Delayed puberty, Cirrhosis, Hepatomegaly, Anemia, Abnormal pulmonary interstitial morphology, Cho... ORPHA:355
Pearson Syndrome
Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Reticulocytosis, Bone ma... ORPHA:699
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Atrial septal defect, Pulmonary hypoplasia, Hydrocele testis OMIM:614080
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology, Cardiomegaly, Hepatic calcification... ORPHA:228308
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Cardiomegaly OMIM:613320
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Increased mean platelet volume, Menorrhagia, Thrombocytopenia, Splenomegaly, Stomatocytosis, Hemo... OMIM:153670
Tarp Syndrome
Cryptorchidism, Pulmonary hypoplasia, Tetralogy of Fallot, Atrial septal defect, Extramedullary h... ORPHA:2886
Craniofaciofrontodigital Syndrome
Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus... ORPHA:363705
Proteasome-Associated Autoinflammatory Syndrome 3
Hepatomegaly, Anemia, Lymphadenopathy, Elevated circulating hepatic transaminase concentration, T... OMIM:617591
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Portal hypertens... ORPHA:309854
Odontochondrodysplasia 1
Recurrent respiratory infections, Pulmonary hypoplasia OMIM:184260
Glycogen Storage Disease Ib
Delayed puberty, Enlarged kidney, Hepatomegaly, Pancreatitis, Elevated circulating hepatic transa... OMIM:232220
Beck-Fahrner Syndrome
Cardiomegaly, Ventricular septal defect OMIM:618798
Hyperparathyroidism, Neonatal Severe
Elevated circulating parathyroid hormone level, Hepatomegaly, Anemia, Primary hyperparathyroidism... OMIM:239200
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, B lymphocytopenia, Pancre... ORPHA:83617
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated circulating thyroid-stimulating hormone concentration, Hepatomegaly, Elevated circulatin... OMIM:256040
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Delayed puberty, Abnormal pulmonary interstitial morphology, Anemia, Cholelithiasis, Pancytopenia... ORPHA:2072
Acro-Renal-Mandibular Syndrome
Abnormal lung lobation, Uterus didelphys, Pulmonary hypoplasia, Bicornuate uterus ORPHA:958
Primary Biliary Cholangitis
Cirrhosis, Jaundice, Hepatomegaly, Hepatocellular carcinoma, Biliary cirrhosis, Portal hypertensi... ORPHA:186
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Delayed puberty, Patent foramen ovale, Ventricular septal defect, Cryptorchidism, Left ventricula... OMIM:300967
Penile Agenesis
Maternal diabetes, Bilateral lung agenesis, Ventricular septal defect, Absent penis, Pulmonary hy... ORPHA:49
Abetalipoproteinemia
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Reticul... ORPHA:14
Congenital Total Pulmonary Venous Return Anomaly
Infracardiac total anomalous pulmonary venous connection, Atrial septal defect, Hepatomegaly, Tra... ORPHA:99125
Primary Triglyceride Deposit Cardiomyovasculopathy
Hepatomegaly, Pancreatitis, Vacuolated lymphocytes, Cardiomyopathy, Coronary artery stenosis, Spl... ORPHA:565612
Lethal Congenital Contracture Syndrome 1
Pulmonary hypoplasia OMIM:253310
Bohring-Opitz Syndrome
Annular pancreas, Cholelithiasis, Cardiomegaly, Recurrent respiratory infections, Abnormal cardia... ORPHA:97297
Beckwith-Wiedemann Syndrome
Enlarged kidney, Hepatomegaly, Abnormal pancreas morphology, Cardiomegaly, Visceromegaly, Hypertr... ORPHA:116
Proteus Syndrome
Abnormal lung lobation, Bronchogenic cyst, Enlarged kidney, Ovarian neoplasm, Pulmonary bulla, Lo... ORPHA:744
Mucolipidosis Ii Alpha/Beta
Enlarged kidney, Hepatomegaly, Recurrent bronchitis, Hypertrophic cardiomyopathy, Recurrent pneum... OMIM:252500
Tyrosinemia, Type I
Cirrhosis, Hepatomegaly, Anemia, Elevated circulating hepatic transaminase concentration, Enlarge... OMIM:276700
Carney Complex
Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hormone cell adenoma, Ovaria... ORPHA:1359
Arterial Calcification, Generalized, Of Infancy, 2
Cardiomegaly, Right atrial enlargement OMIM:614473
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Pulmonary hypoplasia OMIM:236500
Familial Aortic Dissection
Cardiomegaly ORPHA:229
Vacterl With Hydrocephalus
Cryptorchidism, Pulmonary hypoplasia, Abnormal fallopian tube morphology ORPHA:3412
Aicardi-Goutières Syndrome
Elevated circulating hepatic transaminase concentration, Chronic lymphatic leukemia, Neonatal all... ORPHA:51
Danon Disease
Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card... OMIM:300257
Smith-Lemli-Opitz Syndrome
Abnormal lung lobation, Clitoral hypertrophy, Abnormality of the gallbladder, Atrioventricular ca... ORPHA:818
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Anemia, Atelectasis, Cholelithiasis, Truncus art... OMIM:188400
Interatrial Communication
Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Right vent... ORPHA:1478
Tetrasomy 9P
Jaundice, Dextrocardia, Biliary atresia, Patent foramen ovale, Infertility, Oligozoospermia, Abno... ORPHA:3310
Greenberg Dysplasia
Abnormal lung lobation, Hepatomegaly, Hepatic calcification, Bone marrow hypocellularity, Hepatos... OMIM:215140
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Adrenal hypoplasia, Thyroid hypoplasia, Pulmonary hypoplasia,... OMIM:308050
Crimean-Congo Hemorrhagic Fever
Inappropriate antidiuretic hormone secretion, Ascites, Leukopenia, Splenomegaly, Diffuse alveolar... ORPHA:99827
Naxos Disease
Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h... OMIM:601214
Hyperlipoproteinemia, Type I
Jaundice, Acute pancreatitis, Splenomegaly, Hepatosplenomegaly OMIM:238600
Otopalatodigital Syndrome Type 2
Abnormal heart valve morphology, Pulmonary hypoplasia, Hypospadias, Abnormal cardiac septum morph... ORPHA:90652
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Ambiguous genitalia, Cryptorchidism, Pulmonary hypoplasia OMIM:616300
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Cardiomegaly, Abnormal thymus morphology ORPHA:2463
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal heart valve morphology, Pulmonic stenosis, Aortic valve stenosis, Pulmonary hypoplasia, ... ORPHA:536471
Joubert Syndrome 21
Pulmonary hypoplasia, Splenomegaly OMIM:615636
Congenital Myopathy 22B, Severe Fetal
Pulmonary hypoplasia, Hepatomegaly, Pleural effusion, Ascites OMIM:620369
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hepatomegaly, Atelectasis, Elevated circulating alanine aminotransferase concentration, Hypertrop... ORPHA:365
Fraser Syndrome 1
Clitoral hypertrophy, Hypospadias, Bicornuate uterus, Abnormal heart morphology, Pulmonary hypopl... OMIM:219000
Hyperlipoproteinemia, Type Id
Hepatomegaly, Pancreatitis, Splenomegaly, Recurrent pancreatitis OMIM:615947
Esophageal Atresia
Maternal diabetes, Bronchitis, Abnormal external genitalia, Pulmonary hypoplasia, Tetralogy of Fa... ORPHA:1199
Platyspondylic Dysplasia, Torrance Type
Pulmonary hypoplasia ORPHA:85166
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Patent foramen ovale, Mitral valve prolapse, Left ventricular hypertrophy,... OMIM:245600
Cantú Syndrome
Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy ORPHA:1517
Fontaine Progeroid Syndrome
Pneumothorax, Bicuspid aortic valve, Hypoplastic nipples, Absent nipple, Abnormal heart morpholog... OMIM:612289
Neu-Laxova Syndrome
Ambiguous genitalia, External genital hypoplasia, Pulmonary hypoplasia, Hypogonadism ORPHA:2671
Orofaciodigital Syndrome Type 4
Bilateral lung agenesis, Rectovaginal fistula, Monorchism, Perineal fistula, Decreased testicular... ORPHA:2753
X-Linked Intellectual Disability, Snyder Type
Testicular atrophy, Cryptorchidism, Hypospadias, Abnormality of the Leydig cells ORPHA:3063
Multiple Pterygium Syndrome, Escobar Variant
Absence of labia majora, Hypospadias, Hypoplastic nipples, Pulmonary hypoplasia, Cryptorchidism OMIM:265000
Thanatophoric Dysplasia, Type I
Pulmonary hypoplasia OMIM:187600
Renal Agenesis, Bilateral
Pulmonary hypoplasia, Abnormal morphology of female internal genitalia ORPHA:1848
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Pulmonary hypoplasia, Micropenis OMIM:616546
Tetrasomy 5P
Recurrent respiratory infections, Pulmonary hypoplasia ORPHA:3309
Steinert Myotonic Dystrophy
Abnormality of thyroid physiology, Hyperinsulinemia, Decreased response to growth hormone stimula... ORPHA:273
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort... OMIM:620066
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Aplasia of the uterus, Pulmonary hypoplasia, Absent external genitalia, Aplasia of the vagina OMIM:271520
Biliary, Renal, Neurologic, And Skeletal Syndrome
Inlet ventricular septal defect, Intrahepatic bile duct dilatation, Cholestasis, Biliary cirrhosi... OMIM:619534
Renal Tubular Dysgenesis
Pulmonary hypoplasia OMIM:267430
Reynolds Syndrome
Jaundice, Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Bil... OMIM:613471
Schinzel-Giedion Syndrome
Annular pancreas, Hypospadias, Central hypothyroidism, Recurrent pneumonia, Pulmonary hypoplasia,... ORPHA:798
Immunodeficiency 82 With Systemic Inflammation
Anemia, Lymphadenopathy, Anoperineal fistula, B lymphocytopenia, Bronchitis, Decreased proportion... OMIM:619381
Oligomeganephronia
Pulmonary venous occlusion, Secundum atrial septal defect, Pulmonary hypoplasia ORPHA:2260
Lethal Acantholytic Erosive Disorder
Cardiomegaly, Cardiomyopathy ORPHA:158687
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hepatomegaly, External genital hypoplasia, Hypoplastic nipples, Ventricular septal defect, Hypert... ORPHA:96334
Tropical Endomyocardial Fibrosis
Left atrial enlargement, Endocardial fibrosis, Hepatomegaly, Right ventricular cardiomyopathy, Re... ORPHA:75565
Johanson-Blizzard Syndrome
Clitoral hypertrophy, Primary hypothyroidism, Ascites, Urethrovaginal fistula, Splenomegaly, Sept... OMIM:243800
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Pulmonary hypoplasia OMIM:151210
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Pneumothorax, Bicuspid aortic valve, Cardiomegaly ORPHA:91387
Acrorenal-Mandibular Syndrome
Absent nipple, Bicornuate uterus, Unicornuate uterus, Uterus didelphys, Pulmonary hypoplasia OMIM:200980
Aphalangy-Hemivertebrae-Urogenital-Intestinal Dysgenesis Syndrome
Vaginal fistula, Abnormal female external genitalia morphology, Pulmonary hypoplasia, Persistent ... ORPHA:1112
Genitopatellar Syndrome
Clitoral hypertrophy, Enlarged labia minora, Labial hypoplasia, Ventricular septal defect, Hypoth... OMIM:606170
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Cardiomegaly, Right ventricular hypertrophy ORPHA:268
Arterial Calcification, Generalized, Of Infancy, 1
Cardiomegaly, Dilated cardiomyopathy OMIM:208000
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Hydrometrocolpos, Atrioventricular canal defect, Hepatomegaly, Splenomegaly, Vaginal atresia OMIM:617088
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Pulmonary hypoplasia, Atelectasis, Mitral valve prolapse, Repeated pneumothoraces ORPHA:536467
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome
Pulmonary hypoplasia ORPHA:86822
Williams Syndrome
Hypoplasia of penis, Pulmonic stenosis, Mitral valve prolapse, Cardiomegaly, Bicuspid aortic valv... ORPHA:904
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Uterus didelphys, Urethrovaginal fistula, Pulmonary hypoplasia, Congenital h... ORPHA:93271
Yunis-Varon Syndrome
Clitoral hypertrophy, Hypospadias, Ventricular septal defect, Cardiomyopathy, Tetralogy of Fallot... ORPHA:3472
Cystic Fibrosis
Absent vas deferens, Male infertility, Exocrine pancreatic insufficiency ORPHA:586
Fraser Syndrome
Abnormal lung lobation, Hypospadias, Hypoplasia of penis, Abnormal vagina morphology, Bicornuate ... ORPHA:2052
Congenital Myopathy 17
Pulmonary hypoplasia, Respiratory tract infection OMIM:618975
Ulbright-Hodes Syndrome
Pneumothorax, Clitoral hypertrophy, Enlarged labia minora, Maternal diabetes, Abnormal external g... ORPHA:3404
Neu-Laxova Syndrome 1
Transposition of the great arteries, Patent foramen ovale, Ventricular septal defect, Bifid uteru... OMIM:256520
Microcephaly-Micromelia Syndrome
Pulmonary hypoplasia OMIM:251230
Dpagt1-Cdg
Pulmonary hypoplasia, Elevated circulating hepatic transaminase concentration, Hepatomegaly, Anemia ORPHA:86309
Alström Syndrome
Elevated circulating hepatic transaminase concentration, Precocious puberty in females, Primary h... ORPHA:64
Restrictive Dermopathy
Transposition of the great arteries, Hypospadias, Dextrocardia, Congenital adrenal hypoplasia, Ap... ORPHA:1662
Stuve-Wiedemann Syndrome 1
Pulmonary hypoplasia, Pulmonary arterial medial hypertrophy OMIM:601559
Cystic Fibrosis
Exocrine pancreatic insufficiency, Male infertility, Pancreatitis OMIM:219700
Achondroplasia
Pulmonary hypoplasia OMIM:100800
Cystinosis, Nephropathic
Delayed puberty, Male infertility, Primary hypothyroidism, Hypohidrosis, Diabetes mellitus, Exocr... OMIM:219800
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Pulmonary hypoplasia, Peritonitis OMIM:619351
Achondrogenesis, Type Ia
Pulmonary hypoplasia OMIM:200600
Atelosteogenesis Type Ii
Pulmonary hypoplasia ORPHA:56304
Fetal Akinesia Deformation Sequence 1
Cryptorchidism, Pulmonary hypoplasia OMIM:208150
Noonan Syndrome 1
Male infertility, Hypospadias, Hypogonadism, Patent ductus arteriosus, Cryptorchidism OMIM:163950
Raine Syndrome
Pulmonary hypoplasia OMIM:259775
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Cardiomegaly ORPHA:79280
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Ascites, Adrenal calcification, Pericardial effusion, Pancreatic calcifi... ORPHA:51608
Osteogenesis Imperfecta
Pulmonary hypoplasia, Thrombocytopenia, Mitral valve prolapse, Abnormal endocardium morphology ORPHA:666
Restrictive Dermopathy 1
Atrial septal defect, Adrenal hypoplasia, Pulmonary hypoplasia, Hypospadias OMIM:275210
Blomstrand Lethal Chondrodysplasia
Pulmonary hypoplasia ORPHA:50945
Singleton-Merten Syndrome 1
Pleural effusion, Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, ... OMIM:182250
Pallister-Killian Syndrome
Aplasia of the upper vagina, Hypospadias, Labial hypoplasia, Aplasia of the uterus, Ventricular s... OMIM:601803
Lethal Congenital Contracture Syndrome 9
Pulmonary hypoplasia OMIM:616503
Microphthalmia, Syndromic 1
Bicuspid aortic valve, Cryptorchidism, Pulmonary hypoplasia, Hypospadias OMIM:309800
Craniofacial Microsomia 1
Ventricular septal defect, Pulmonary hypoplasia, Tetralogy of Fallot OMIM:164210

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.

There is no histopathology data for Btbd18

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 Btbd18.

No publications found that use IMPC mice or data for Btbd18.

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MGI Allele Allele Type Produced
Btbd18em1(IMPC)Ccpcz Indel Mice

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