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Gene: Egr1 MGI:95295

Gene Summary

Name:

early growth response 1

Synonyms:

NGF1-A, Zfp-6, Krox-1, Krox24, A530045N19Rik, TIS8, Zif268, NGFI-A, Krox-24, Egr-1, NGFIA, Zenk, ETR103

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	Allele	Zyg	Life Stage	P Value
abnormal midbrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal hindbrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
short tibia	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	8.95×10^-06
female infertility	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
embryonic growth retardation	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
small uterus	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
abnormal optic disk morphology	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	3.27×10^-05
preweaning lethality, incomplete penetrance	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
male infertility	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00
increased lymphocyte cell number	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	1.70×10^-05
decreased body length	Egr1^{tm1b(NCOM)Mfgc}	HET	Early adult	3.86×10^-05
abnormal forebrain development	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal embryo size	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
abnormal neural tube closure	Egr1^{tm1b(NCOM)Mfgc}	HOM	E9.5	0.00
absent seminal vesicle	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult	0.00

Download data as: TSV XLS

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lacZ Expression

No Adult expression data was found for this gene.

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Axial skeleton	N/A	heterozygote	100% (2 of 2)
Axial skeleton	N/A	homozygote	100% (1 of 1)
Brain	N/A	heterozygote	50% (2 of 4)
Brain	N/A	homozygote	100% (1 of 1)
Central nervous system ganglion	N/A	heterozygote	100% (2 of 2)
Central nervous system ganglion	N/A	homozygote	100% (1 of 1)
Ear	N/A	heterozygote	50% (2 of 4)
Ear	N/A	homozygote	100% (1 of 1)
Embryo	N/A	heterozygote	100% (4 of 4)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	50% (2 of 4)
Eye	N/A	homozygote	100% (1 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 4)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	50% (2 of 4)
Forebrain	N/A	homozygote	100% (1 of 1)
Forelimb	N/A	heterozygote	50% (2 of 4)
Forelimb	N/A	homozygote	100% (1 of 1)
Gut	N/A	heterozygote	100% (2 of 2)
Gut	N/A	homozygote	100% (1 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 4)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	50% (2 of 4)
Head	N/A	homozygote	100% (1 of 1)
Heart	N/A	heterozygote	50% (2 of 4)
Heart	N/A	homozygote	100% (1 of 1)
Hindbrain	N/A	heterozygote	50% (2 of 4)
Hindbrain	N/A	homozygote	100% (1 of 1)
Hindlimb	N/A	heterozygote	50% (2 of 4)
Hindlimb	N/A	homozygote	100% (1 of 1)
Liver	N/A	heterozygote	50% (2 of 4)
Liver	N/A	homozygote	100% (1 of 1)
Lung	N/A	heterozygote	50% (2 of 4)
Lung	N/A	homozygote	100% (1 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 4)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 4)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	50% (2 of 4)
Midbrain	N/A	homozygote	100% (1 of 1)
Nose	N/A	heterozygote	100% (2 of 2)
Nose	N/A	homozygote	100% (1 of 1)
Oral cavity	N/A	heterozygote	50% (2 of 4)
Oral cavity	N/A	homozygote	100% (1 of 1)
Chorioallantoic placenta	N/A	heterozygote	100% (2 of 2)
Chorioallantoic placenta	N/A	homozygote	100% (1 of 1)
Skeleton	N/A	heterozygote	100% (2 of 2)
Skeleton	N/A	homozygote	100% (1 of 1)
Skin	N/A	heterozygote	50% (2 of 4)
Skin	N/A	homozygote	100% (1 of 1)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spinal cord	N/A	homozygote	100% (1 of 1)
Tail somite	N/A	heterozygote	50% (2 of 4)
Tail somite	N/A	homozygote	100% (1 of 1)
Tail	N/A	heterozygote	50% (2 of 4)
Tail	N/A	homozygote	100% (1 of 1)
Trachea	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	homozygote	100% (1 of 1)
Urinary system	N/A	heterozygote	100% (2 of 2)
Urinary system	N/A	homozygote	100% (1 of 1)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy	Background staining in controls(WT)
axial skeleton	1.56% (1 of 64)
brain	1.17% (6 of 511)
central nervous system ganglion	1.37% (1 of 73)
ear	0.2% (1 of 511)
embryo	0.39% (2 of 512)
eye	0.2% (1 of 511)
footplate	0.2% (1 of 511)
forebrain	0.2% (1 of 511)
forelimb	0.2% (1 of 511)
gut	1.69% (1 of 59)
handplate	0.2% (1 of 511)
head	0.98% (5 of 511)
heart	0.2% (1 of 511)
hindbrain	1.17% (6 of 511)
hindlimb	0.2% (1 of 511)
liver	0.2% (1 of 506)
lung	0.2% (1 of 506)
mandibular process	0.2% (1 of 511)
maxillary process	0.2% (1 of 511)
midbrain	0.2% (1 of 511)
nose	1.28% (1 of 78)
oral cavity	0.2% (1 of 506)
placenta	16.67% (7 of 42)
skeleton	1.28% (1 of 78)
skin	0.2% (1 of 511)
spinal cord	1.39% (1 of 72)
tail	0.2% (1 of 511)
tail somite group	0.2% (1 of 511)
trachea	1.69% (1 of 59)
urinary system	1.69% (1 of 59)

Associated Images

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

Histopathology

Images

10 Images

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Gross Morphology Embryo E9.5

Images

4 Images

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Immunophenotyping

Panel A FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Dorso Ventral

14 Images

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Eye Morphology

Images Ophthalmoscopy

10 Images

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Embryo LacZ

LacZ images wholemount

20 Images

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Gross Pathology and Tissue Collection

Images

18 Images

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X-ray

XRay Images Skull Lateral Orientation

14 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

14 Images

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OPT E9.5

Embryo reconstruction

8 Images

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Immunophenotyping

Panel B FCS file(s)

6 Images

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X-ray

XRay Images Whole Body Lateral Orientation

14 Images

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Human diseases caused by Egr1 mutations

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

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

Human diseases associated with Egr1 (0 diseases)
Human diseases predicted to be associated with Egr1 (1483 diseases)

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

The table below shows human diseases predicted to be associated to Egr1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oocyte/Zygote/Embryo Maturation Arrest 11	Female infertility	OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7	Female infertility	OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6	Female infertility	OMIM:618353
Progesterone Resistance	Female infertility	OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 2	Female infertility, Oocyte arrest at metaphase I	OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 15	Female infertility	OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1	Female infertility	OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3	Female infertility	OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 4	Female infertility, Oocyte arrest at metaphase I	OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 5	Female infertility	OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 8	Female infertility	OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13	Female infertility	OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 9	Female infertility, Oocyte arrest at metaphase I	OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 12	Female infertility	OMIM:619697
Hydatidiform Mole, Recurrent, 3	Female infertility	OMIM:618431
Premature Ovarian Failure 19	Irregular menstruation, Female infertility, Premature ovarian insufficiency, Secondary amenorrhea	OMIM:619245
Presenile Dementia, Kraepelin Type	Dementia	OMIM:176600
Schizophrenia 19	Cognitive impairment	OMIM:617629
Monoamine Oxidase A Deficiency	Cognitive impairment	ORPHA:3057
Hydatidiform Mole, Recurrent, 4	Female infertility	OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 16	Infertility	OMIM:617234
Nondisjunction	Decreased fertility	OMIM:158250
Oocyte/Zygote/Embryo Maturation Arrest 10	Female infertility	OMIM:619176
Female Infertility Due To Oocyte Meiotic Arrest	Oocyte arrest at metaphase I, Female infertility, Abnormal spermatogenesis, Abnormal meiosis	ORPHA:488191
X-Linked Intellectual Disability, Van Esch Type	Short stature, Absence of secondary sex characteristics, Decreased testicular size, Type II diabe...	ORPHA:163976
Pituicytoma	Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t...	ORPHA:251623
Isolated Follicle Stimulating Hormone Deficiency	Female hypogonadism, Primary amenorrhea, Gonadotropin deficiency, Decreased serum estradiol, Decr...	ORPHA:52901
Premature Ovarian Failure 2B	Premature ovarian insufficiency, Female infertility, Primary amenorrhea	OMIM:300604
46,Xy Sex Reversal 11	Urogenital sinus anomaly, Abnormal internal genitalia, Primary amenorrhea, Aplasia of the uterus,...	OMIM:273250
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia	Testicular microlithiasis, Abnormal spermatogenesis, Decreased circulating dihydrotestosterone co...	OMIM:228300
X-Linked Intellectual Disability, Cilliers Type	Short stature, Absence of secondary sex characteristics, Decreased testicular size, Shyness, Male...	ORPHA:163971
Spermatogenic Failure 17	Male infertility	OMIM:617214
Chromosome Xq27.3-Q28 Duplication Syndrome	Hypogonadism, Short stature, Small for gestational age, Decreased testicular size, Increased circ...	OMIM:300869
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Primary amenorrhea, Gonadoblastoma, Abnormality of female external genitalia, Decreased serum est...	ORPHA:168563
Syndactyly Type 4	Triphalangeal thumb, Camptodactyly of finger, Short tibia, Foot polydactyly, Toe syndactyly, Hand...	ORPHA:93405
Partial Chromosome Y Deletion	Abnormal spermatogenesis, Decreased testicular size, Non-obstructive azoospermia, Oligospermia, M...	ORPHA:1646
Spermatogenic Failure 28	Decreased testicular size, Decreased serum testosterone concentration, Male infertility, Elevated...	OMIM:618086
Hyperprolactinemia	Female infertility, Menorrhagia, Oligomenorrhea	OMIM:615555
49,Xxxyy Syndrome	Primary gonadal insufficiency, Ambiguous genitalia, Abnormality of the testis size, External geni...	ORPHA:261534
Leydig Cell Hypoplasia	Ambiguous genitalia, Breast aplasia, Increased circulating gonadotropin level, Primary amenorrhea...	ORPHA:755
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia	Primary amenorrhea, Decreased serum estradiol, Decreased testicular size, Decreased circulating g...	OMIM:614841
Bdv Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hyperin...	OMIM:619326
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:616030
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:90793
Spermatogenic Failure 15	Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Abnormal circul...	OMIM:616950
Obesity Due To Leptin Receptor Gene Deficiency	Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact...	ORPHA:179494
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased t...	OMIM:614837
Spermatogenic Failure 25	Decreased testicular size, Early spermatogenesis maturation arrest, Cryptozoospermia, Male infert...	OMIM:617960
Spermatogenic Failure 63	Decreased testicular size, Oligospermia, Male infertility, Reduced progressive sperm motility	OMIM:619689
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect	OMIM:615041
Ovarian Dysgenesis 7	Primary amenorrhea, Delayed puberty, Hypoplasia of the uterus	OMIM:618117
Glycine N-Methyltransferase Deficiency	Hypermethioninemia, Elevated hepatic transaminase, Hepatomegaly	OMIM:606664
Premature Ovarian Failure 6	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ...	OMIM:612310
Ovarian Dysgenesis 9	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Delayed pube...	OMIM:619665
Spermatogenic Failure 30	Spermatogenesis maturation arrest, Azoospermia, Cryptozoospermia, Male infertility, Cryptorchidism	OMIM:618110
Obesity Due To Congenital Leptin Deficiency	Primary amenorrhea, Hyperinsulinemia, Decreased serum estradiol, Absence of secondary sex charact...	ORPHA:66628
Spermatogenic Failure 77	Azoospermia, Oligospermia, Male infertility, Abnormal circulating testosterone concentration, Abn...	OMIM:620103
49,Xyyyy Syndrome	Primary gonadal insufficiency, Abnormality of the testis size, External genital hypoplasia, Decre...	ORPHA:99330
Acromesomelic Dysplasia 2C	Short tibia, Short foot, Hypoplasia of the radius, Radial bowing, Cuboidal metacarpal, Hip disloc...	OMIM:201250
Normosmic Congenital Hypogonadotropic Hypogonadism	Impotence, Primary amenorrhea, Hypoplasia of the uterus, Eunuchoid habitus, Delayed puberty, Abse...	ORPHA:432
Spermatogenic Failure 2	Azoospermia, Non-obstructive azoospermia, Oligospermia, Male infertility, Abnormal circulating te...	OMIM:108420
Premature Ovarian Failure 13	Female infertility, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Amen...	OMIM:617442
Tibia, Hypoplasia Or Aplasia Of, With Polydactyly	Triphalangeal thumb, Short tibia, Absent tibia, Preaxial polydactyly, Fibular duplication	OMIM:188740
Ring Chromosome Y Syndrome	Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Unilateral cryptorchidism, Abno...	ORPHA:261529
46,Xy Disorder Of Sex Development Due To Isolated 17,20-Lyase Deficiency	Abnormal circulating corticosterone level, Primary amenorrhea, Hypoplasia of the uterus, Primary ...	ORPHA:90796
Premature Ovarian Failure 18	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ...	OMIM:619203
Hypogonadotropic Hypogonadism 25 With Anosmia	Primary amenorrhea, Decreased serum estradiol, Hypothalamic gonadotropin-releasing hormone defici...	OMIM:618841
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome	Short tibia, Foot oligodactyly, Hand oligodactyly, Syndactyly, Fibular aplasia, Tibial bowing	OMIM:246570
Premature Ovarian Failure 7	Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating luteinizing hormone l...	OMIM:612964
Male Infertility Due To Acephalic Spermatozoa	Abnormal sperm mid-piece morphology, Androgen insufficiency, Reduced sperm motility, Oligospermia...	ORPHA:529970
46,Xy Partial Gonadal Dysgenesis	Ambiguous genitalia, Gonadoblastoma, Adrenal insufficiency, Increased circulating gonadotropin le...	ORPHA:251510
Spermatogenic Failure 65	Absent sperm flagella, Abnormal sperm mid-piece morphology, Short sperm flagella, Reduced sperm m...	OMIM:619712
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614897
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Ambiguous genitalia,...	ORPHA:90791
Ovarian Dysgenesis 2	Secondary amenorrhea, Premature ovarian insufficiency, Delayed puberty, Hypergonadotropic hypogon...	OMIM:300510
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased serum estradiol, Hypo...	OMIM:614842
Acromesomelic Dysplasia 2A	Short tibia, Short phalanx of finger, Aplasia/Hypoplasia involving the metacarpal bones, Hypoplas...	OMIM:200700
Chondrodysplasia Punctata, Tibia-Metacarpal Type	Short tibia, Short 4th metacarpal, Short long bone, Epiphyseal stippling, Short 3rd metacarpal, L...	OMIM:118651
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Anterio...	ORPHA:453533
Spermatogenic Failure 56	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:619515
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Decreased testicular size, Hypo...	OMIM:308700
Spermatogenic Failure, X-Linked, 3	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:301059
Isochromosomy Yp	Primary gonadal insufficiency, Ambiguous genitalia, Decreased testicular size, Azoospermia, Male ...	ORPHA:98797
Spermatogenic Failure, X-Linked, 4	Azoospermia, Abnormal prolactin level, Male infertility, Elevated circulating luteinizing hormone...	OMIM:301077
Spermatogenic Failure 54	Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospermia, Cryptozoospermia,...	OMIM:619379
Osebold-Remondini Syndrome	Short tibia, Short toe, Short phalanx of finger, Hypoplasia of the radius, Carpal synostosis, Hyp...	OMIM:112910
Neural Tube Defects, Folate-Sensitive	Spinal dysraphism	OMIM:601634
Ovarian Dysgenesis 6	Primary amenorrhea, Absence of pubertal development, Hypergonadotropic hypogonadism, Hypoplasia o...	OMIM:618078
Acromesomelic Dysplasia, Grebe Type	Short tibia, Short toe, Aplasia/Hypoplasia of the thumb, Aplasia/Hypoplasia involving the metacar...	ORPHA:2098
Endometriosis, Susceptibility To, 1	Endometriosis, Dysmenorrhea, Decreased fertility	OMIM:131200
Lymphoproliferative Syndrome, X-Linked, 2	Decreased circulating antibody level, Hepatitis, Folliculitis, Erythema nodosum, Pancytopenia, In...	OMIM:300635
Perrault Syndrome 6	Irregular menstruation, Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea...	OMIM:617565
Spermatogenic Failure 40	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Coiled sperm flagell...	OMIM:618664
Spermatogenic Failure 76	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Oligospermia, Irregularly sh...	OMIM:620084
Ovarian Dysgenesis 5	Decreased serum estradiol, Short stature, Elevated circulating luteinizing hormone level, Primary...	OMIM:617690
Acrocapitofemoral Dysplasia	Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the...	OMIM:607778
Mesomelic Dwarfism Of Hypoplastic Tibia And Radius Type	Short tibia, Hypoplasia of the radius, Pseudoarthrosis	OMIM:156230
Cholestasis, Progressive Familial Intrahepatic, 11	Elevated circulating alanine aminotransferase concentration, Elevated circulating aspartate amino...	OMIM:619874
Niemann-Pick Disease, Type B	Sea-blue histiocytosis, Anemia, Abnormal pulmonary interstitial morphology, Hypertriglyceridemia,...	OMIM:607616
Spermatogenic Failure 39	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Oligospe...	OMIM:618643
Persistent Mullerian Duct Syndrome, Types I And Ii	Bilateral cryptorchidism, Male infertility, Decreased cirrculating antimullerian hormone circulation	OMIM:261550
Spermatogenic Failure 58	Short sperm flagella, Oligospermia, Irregularly shaped sperm tail, Male infertility, Reduced prog...	OMIM:619585
Delayed Puberty, Self-Limited	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Decreased seru...	OMIM:619613
Macrophage Activation Syndrome	Hepatomegaly, Decreased liver function, Thrombocytopenia, Splenomegaly, Elevated circulating alan...	ORPHA:158061
Asherman Syndrome	Decreased fertility in females, Secondary amenorrhea, Infertility, Abnormality of the menstrual c...	ORPHA:137686
Gollop-Wolfgang Complex	Aplasia/Hypoplasia of the tibia, Hand monodactyly, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia ...	ORPHA:1986
Spermatogenic Failure 47	Absent sperm flagella, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:619102
Spermatogenic Failure 32	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:618115
Spermatogenic Failure 71	Sertoli cell-only phenotype, Male infertility, Non-obstructive azoospermia	OMIM:619831
Langer Mesomelic Dysplasia	Short tibia, Broad ulna, Short femoral neck, Hypoplasia of the radius, Micrognathia, Radial bowin...	OMIM:249700
Spermatogenic Failure 51	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Macroceph...	OMIM:619177
Isochromosomy Yq	Primary gonadal insufficiency, Gonadal tissue inappropriate for external genitalia or chromosomal...	ORPHA:98798
Spermatogenic Failure 14	Azoospermia, Late spermatogenesis maturation arrest, Abnormal prolactin level, Male infertility, ...	OMIM:615842
Spermatogenic Failure 57	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia, Decreased testi...	OMIM:619528
Acheiropody	Short tibia, Aplasia of the phalanges of the hand, Absent toe, Aplasia of metacarpal bones, Aplas...	OMIM:200500
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia	Primary amenorrhea, Microphallus, Decreased testicular size, Absence of pubertal development, Cry...	OMIM:614840
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia	Primary amenorrhea, Decreased circulating follicle stimulating hormone concentration, Decreased s...	OMIM:614839
Spermatogenic Failure 48	Spermatogenesis maturation arrest, Oligospermia, Male infertility, Azoospermia	OMIM:619108
Premature Ovarian Failure 3	Premature ovarian insufficiency, Secondary amenorrhea, Hypoplasia of the uterus	OMIM:608996
Functioning Gonadotropic Adenoma	Impotence, Anterior hypopituitarism, Decreased female libido, Increased circulating gonadotropin ...	ORPHA:91348
Spermatogenic Failure 11	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:615081
Spermatogenic Failure 10	Abnormal sperm morphology, Oligospermia, Male infertility, Reduced sperm motility	OMIM:614822
Spermatogenic Failure 1	Oligospermia, Cryptozoospermia, Male infertility	OMIM:258150
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Primary gonadal insufficiency, Primary amenorrhea, Decreased serum estradiol, Aplasia of the ovar...	ORPHA:2232
Spermatogenic Failure 21	Infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617644
Spermatogenic Failure 41	Tapered sperm head, Short sperm flagella, Oligospermia, Male infertility, Immotile sperm	OMIM:618670
Familial Hyperprolactinemia	Female hypogonadism, Hemorrhagic ovarian cyst, Infertility, Menorrhagia, Oligomenorrhea, Amenorrhea	ORPHA:397685
Felty Syndrome	Pericarditis, Bone marrow hypocellularity, Hepatomegaly, Thrombocytopenia, Splenomegaly, Abnormal...	ORPHA:47612
Spermatogenic Failure 50	Spermatogenesis maturation arrest, Male infertility, Azoospermia, Decreased testicular size	OMIM:619145
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Myelodysplasia, Acute lymphoblastic leukemia, Hepatocellular carcinoma, E...	ORPHA:158057
Halothane Hepatitis	Hepatitis, Viral hepatitis, Jaundice, Eosinophilia	OMIM:234350
Spermatogenic Failure 7	Oligospermia, Male infertility, Reduced sperm motility, Immotile sperm	OMIM:612997
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
Ovarian Dysgenesis 3	Aplasia of the ovary, Female infertility, Delayed puberty, Elevated circulating luteinizing hormo...	OMIM:614324
Spermatogenic Failure 35	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Male infe...	OMIM:618341
Perrault Syndrome 3	Short stature, Elevated circulating follicle stimulating hormone level, Elevated circulating lute...	OMIM:614129
Complete Androgen Insensitivity Syndrome	Increased serum estradiol, Primary amenorrhea, Increased serum testosterone level, Bilateral cryp...	ORPHA:99429
Charcot-Marie-Tooth Disease, X-Linked Recessive, 4, With Or Without Cerebellar Ataxia	Increased circulating lactate dehydrogenase concentration, Elevated hepatic transaminase, Elevate...	OMIM:310490
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Anemia, Abnormal pulmonary interstitial morphology, Abnormal natural killer cell physiology, Decr...	OMIM:613101
Spermatogenic Failure 20	Absent sperm flagella, Short sperm flagella, Male infertility, Coiled sperm flagella	OMIM:617593
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 1	Anemia, Myeloid leukemia, Cirrhosis, Myelodysplasia, Pancytopenia, Usual interstitial pneumonia, ...	OMIM:614742
Lethal Faciocardiomelic Dysplasia	Short tibia, Radial club hand, Short 5th finger, Hypoplasia of the radius, Microretrognathia, Hyp...	ORPHA:1972
Perrault Syndrome 4	Decreased serum estradiol, Bicornuate uterus, Premature ovarian insufficiency, Secondary amenorrh...	OMIM:615300
Premature Ovarian Failure 20	Female infertility, Secondary amenorrhea	OMIM:619938
Leri-Weill Dyschondrosteosis	Short tibia, Short toe, Short 4th metacarpal, Coxa valga, Abnormal carpal morphology, Hypoplasia ...	OMIM:127300
Spermatogenic Failure 72	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Irregular...	OMIM:619867
Spermatogenic Failure 34	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:618153
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Nodular regenerative hyperplasia of liver, Abnormal pleura morphology, Elevated hepatic transamin...	ORPHA:210136
Spermatogenic Failure 70	Oligospermia, Reduced sperm motility, Azoospermia, Male infertility	OMIM:619828
Ane Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Abnormal re...	ORPHA:157954
Bile Acid Synthesis Defect, Congenital, 1	Hepatic failure, Cirrhosis, Jaundice, Elevated hepatic transaminase, Acholic stools, Intrahepatic...	OMIM:607765
Hepatocellular Carcinoma	Micronodular cirrhosis, Hepatocellular carcinoma, Subacute progressive viral hepatitis	OMIM:114550
Spermatogenic Failure 33	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618152
Spermatogenic Failure 37	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:618429
Spermatogenic Failure 18	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:617576
Spermatogenic Failure 46	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Irregularly shaped sperm tai...	OMIM:619095
Spermatogenic Failure 27	Absent sperm flagella, Short sperm flagella, Absent sperm axoneme central pair complex, Reduced s...	OMIM:617965
Mesomelic Dysplasia, Savarirayan Type	Short tibia, Abnormal foot morphology, Hip dislocation, Talipes equinovalgus, Dislocated radial h...	OMIM:605274
Spermatogenic Failure 36	Abnormal sperm morphology, Male infertility	OMIM:618420
Complement Component C1S Deficiency	Hepatitis, Hashimoto thyroiditis	OMIM:613783
Spermatogenic Failure 22	Cryptozoospermia, Male infertility, Non-obstructive azoospermia	OMIM:617706
Partial Androgen Insensitivity Syndrome	Ambiguous genitalia, Male sexual dysfunction, Blind vagina, Primary amenorrhea, Increased circula...	ORPHA:90797
Pituitary Hormone Deficiency, Combined, 2	Hypothyroidism, Decreased circulating follicle stimulating hormone concentration, Hypogonadism, A...	OMIM:262600
Spermatogenic Failure 64	Reduced progressive sperm motility, Oligospermia, Male infertility, Abnormal sperm head morphology	OMIM:619696
Pentosuria	Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level	ORPHA:2843
Bile Acid Conjugation Defect 1	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Jaundice, Elevated ...	OMIM:619232
Spermatogenic Failure 43	Absent sperm flagella, Absent sperm axoneme central pair complex, Reduced sperm motility, Male in...	OMIM:618751
Spermatogenic Failure 19	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:617592
Spermatogenic Failure 49	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619144
Spermatogenic Failure 45	Absent sperm flagella, Short sperm flagella, Reduced sperm motility, Male infertility, Coiled spe...	OMIM:619094
Diethylstilbestrol Syndrome	Decreased fertility in females, Abnormal testis morphology, Small for gestational age, Premature ...	ORPHA:1916
46,Xy Disorder Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Adrenocorticotropic hormone excess, Decreased circulating aldosterone level, Decreased circulatin...	ORPHA:289548
Autoimmune Lymphoproliferative Syndrome	Coombs-positive hemolytic anemia, Hepatocellular carcinoma, Reticulocytosis, Neoplasm of the skin...	ORPHA:3261
Myelopathy, Htlv-1-Associated	Myelopathy	OMIM:159580
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	T lymphocytopenia, Recurrent aspiration pneumonia, Elevated hepatic transaminase, Hepatosplenomeg...	ORPHA:79124
Panhypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95513
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone	Decreased circulating luteinizing hormone level, Congenital adrenal hypoplasia, Micropenis, Crypt...	OMIM:202150
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Decreased testicular size, Abnormality of the ovary, Hypogonadism	ORPHA:1875
Spina Bifida-Hypospadias Syndrome	Spina bifida, Spinal dysraphism	ORPHA:3176
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Chronic bronchitis, T lymphocytopenia, Bronchiectasis, Impaired neutrophil chemotaxis, Recurrent ...	OMIM:618986
Adenohypophysitis	Increased circulating prolactin concentration, Abnormal size of pituitary gland, Gonadotropin def...	ORPHA:95512
Léri-Weill Dyschondrosteosis	Short tibia, Abnormal carpal morphology, Abnormal metaphysis morphology, Genu valgum, Abnormality...	ORPHA:240
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation	Abnormal spermatogenesis, Decreased testicular size, Azoospermia, Non-obstructive azoospermia, In...	ORPHA:399805
Familial Male-Limited Precocious Puberty	Macroorchidism, Precocious puberty, Long penis, Oligospermia, Male infertility	ORPHA:3000
Fibular Hemimelia	Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact...	ORPHA:93323
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Hepatitis, Lymphopenia, Recurrent otitis media, Autoimmune thrombocytopenia, Au...	ORPHA:444463
46,Xx Testicular Disorder Of Sex Development	Male hypogonadism, Ambiguous genitalia, Polycystic ovaries, Decreased testicular size	ORPHA:393
Testicular Agenesis	Urogenital sinus anomaly, Ambiguous genitalia, Absent external genitalia, Urethrovaginal fistula,...	ORPHA:325124
Fetal Cytomegalovirus Syndrome	Anemia, Splenomegaly, Hepatomegaly, Abnormality of vision	ORPHA:294
Blount Disease	Tibial bowing, Abnormality of the knee, Abnormality of the proximal tibial epiphysis, Abnormal ti...	ORPHA:2768
Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density	Short tibia, Hypoplasia of the radius, Lytic defects of humeral diaphysis, Short femur, Hypoplasi...	OMIM:601376
Aspergillosis	Osteomyelitis, Bronchiectasis, Hepatitis, Pleuritis, Pleural effusion, Pneumonia, Hypersensitivit...	ORPHA:1163
Kallmann Syndrome With Spastic Paraplegia	Decreased circulating follicle stimulating hormone concentration, Hypothalamic gonadotropin-relea...	OMIM:308750
African Iron Overload	Hepatic fibrosis, Hepatitis, Elevated transferrin saturation, Hepatocellular carcinoma, Hepatic b...	ORPHA:139507
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Hypogonadism, Decreased testicu...	OMIM:229070
Microhydranencephaly, X-Linked	Holoprosencephaly, Intrauterine growth retardation	OMIM:306990
Spermatogenic Failure 31	Male infertility, Acephalic spermatozoa	OMIM:618112
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Hypogonadism, Short stature, Decreased testicular size, Emotional lability, Failure to thrive, De...	OMIM:201100
Spermatogenic Failure 53	Male infertility, Tapered sperm head	OMIM:619258
Spermatogenic Failure 26	Male infertility, Acephalic spermatozoa	OMIM:617961
Congenital Bile Acid Synthesis Defect Type 2	Hepatic failure, Jaundice, Abnormal serum bile acid concentration, Elevated hepatic transaminase,...	ORPHA:79303
Woodhouse-Sakati Syndrome	Hypothyroidism, Hyperinsulinemia, Abnormal spermatogenesis, Decreased response to growth hormone ...	ORPHA:3464
Hypercholanemia, Familial, 2	Unconjugated hyperbilirubinemia, Prolonged neonatal jaundice, Increased serum bile acid concentra...	OMIM:619256
Laurin-Sandrow Syndrome	Triphalangeal thumb, Broad foot, Patellar aplasia, Absent tibia, Hand polydactyly, Syndactyly, Ab...	OMIM:135750
Spermatogenic Failure 62	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619673
Spermatogenic Failure 61	Early spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619672
Spermatogenic Failure 73	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619878
Spermatogenic Failure 59	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619645
Spermatogenic Failure 60	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619646
Spermatogenic Failure 74	Spermatogenesis maturation arrest, Male infertility, Non-obstructive azoospermia	OMIM:619937
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Lymphadenitis, Crohn's disease, Perianal abscess, Hemolytic anemia, Short stature, Granuloma, Ecz...	OMIM:618935
Spermatogenic Failure 8	Oligospermia, Cryptozoospermia, Azoospermia	OMIM:613957
45,X/46,Xy Mixed Gonadal Dysgenesis	Hypothyroidism, Ambiguous genitalia, Gonadoblastoma, Ambiguous genitalia, female, Increased circu...	ORPHA:1772
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 2	Cirrhosis, Myeloid leukemia, Pancytopenia, Bone marrow hypocellularity, Aplastic anemia, Pulmonar...	OMIM:614743
Immunodeficiency 60 And Autoimmunity	Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Recurrent sinopulmonary infecti...	OMIM:618394
Aarskog-Scott Syndrome	Short stature, Shawl scrotum, Bilateral cryptorchidism, Failure to thrive, Delayed puberty, Testi...	OMIM:305400
Spermatogenic Failure 42	Absent sperm flagella, Tapered sperm head, Short sperm flagella, Reduced sperm motility, Male inf...	OMIM:618745
Symptomatic Form Of Hemochromatosis Type 1	Hypothyroidism, Weight loss, Infertility, Apathy, Erectile dysfunction, Testicular atrophy, Diabe...	ORPHA:465508
Estrogen Resistance	Increased serum estradiol, Hyperinsulinemia, Breast aplasia, Polycystic ovaries, Delayed puberty,...	OMIM:615363
Non-Functioning Pituitary Adenoma	Impotence, Anterior hypopituitarism, Adrenal insufficiency, Decreased female libido, Increased ci...	ORPHA:91349
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Thrombocytopenia, Aplastic anemia, Splenomegaly, Decreased circulating IgG level, B...	OMIM:308240
Spermatogenic Failure 52	Male infertility, Azoospermia	OMIM:619202
Spermatogenic Failure, Y-Linked, 2	Male infertility, Azoospermia	OMIM:415000
Spermatogenic Failure 23	Male infertility, Azoospermia	OMIM:617707
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Erysipelas, Elevated circulating creatine kinase concentration, Cataract, Delayed puberty, Growth...	OMIM:615704
47,Xyy Syndrome	Macroorchidism, Increased serum testosterone level, Impaired social interactions, Delayed speech ...	ORPHA:8
Bile Acid Synthesis Defect, Congenital, 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Hepatiti...	OMIM:613812
Spermatogenic Failure 78	Microcephalic sperm head, Male infertility, Tapered sperm head	OMIM:620170
Immunodeficiency 91 And Hyperinflammation	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Increased circulating lactate d...	OMIM:619644
Beta-Thalassemia	Splenomegaly, Anemia, Abnormality of iron homeostasis, Hepatitis, Hepatomegaly, Thrombocytopenia,...	ORPHA:848
Dyschondrosteosis And Nephritis	Short tibia, Radial bowing, Ulnar bowing, Short forearm	OMIM:127350
Müllerian Aplasia And Hyperandrogenism	Increased serum testosterone level, Short stature, Abnormality of the ovary, Hypoplasia of the ut...	ORPHA:247768
Ras-Associated Autoimmune Leukoproliferative Disorder	Lymphoma, Splenomegaly, Hemolytic anemia, Recurrent respiratory infections, Increased circulating...	OMIM:614470
Immunodeficiency 97 With Autoinflammation	Decreased proportion of CD8-positive, alpha-beta TEMRA T cells, Eczema, Hepatosplenomegaly, Eosin...	OMIM:619802
Leber Hereditary Optic Neuropathy, Modifier Of	Leber optic atrophy, Optic atrophy	OMIM:308905
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Disproportionate shortening of the tibia, Cutaneous ...	OMIM:619217
Morbid Obesity And Spermatogenic Failure	Type II diabetes mellitus, Infertility, Azoospermia, Oligospermia, Obesity	OMIM:615703
Adrenal Hypoplasia, Congenital	Precocious puberty, Decreased circulating aldosterone level, Adrenal insufficiency, Decreased cir...	OMIM:300200
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,...	OMIM:612447
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Gonadal dysgenesis, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:607080
Immunodeficiency 85 And Autoimmunity	Oligoarthritis, Reduced natural killer cell count, Erythroderma, Decreased circulating total IgM,...	OMIM:619510
Alpha-1-Antitrypsin Deficiency	Hepatitis, Jaundice, Hepatic failure, Hepatomegaly	ORPHA:60
Hemophagocytic Lymphohistiocytosis, Familial, 4	Conjunctivitis, Anemia, Hypertriglyceridemia, Skin rash, Jaundice, Lymphadenopathy, Increased cir...	OMIM:603552
Congenital Disorder Of Glycosylation, Type Iip	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Hepatic steatos...	OMIM:616829
46,Xx Sex Reversal 2	Sex reversal, Bifid scrotum, Hypoplasia of the vagina, Perineal hypospadias, True hermaphroditism...	OMIM:278850
Ovarian Fibrothecoma	Increased serum testosterone level, Gonadal calcification, Abnormal circulating hormone concentra...	ORPHA:314478
46,Xy Sex Reversal 3	Ambiguous genitalia, Sex reversal, Penoscrotal hypospadias, Elevated circulating luteinizing horm...	OMIM:612965
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm	Abnormal sperm morphology, Male infertility, Immotile sperm	OMIM:608653
Spermatogenic Failure 4	Male infertility, Azoospermia	OMIM:270960
Estrogen Resistance Syndrome	Hyperinsulinemia, Enlarged polycystic ovaries, Absence of secondary sex characteristics, Abnormal...	ORPHA:785
Interstitial Lung Disease 2	Cirrhosis, Elevated bronchoalveolar lavage fluid neutrophil proportion, Increased circulating ant...	OMIM:178500
Spermatogenic Failure 29	Male infertility, Immotile sperm, Non-obstructive azoospermia	OMIM:618091
Bilateral Striopallidodentate Calcinosis	Abnormality of the liver, Corneal opacity, Hepatomegaly, Thrombocytopenia, Intrauterine growth re...	ORPHA:1980
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Decreased testicular size, Type I diabetes mellitus, Eunuchoid habitus, Breast aplasia, Elevated ...	ORPHA:3044
Hermansky-Pudlak Syndrome 2	Reduced natural killer cell count, Decreased CD4:CD8 ratio, Enlarged platelet dense granules, Red...	OMIM:608233
Woodhouse-Sakati Syndrome	Elevated circulating thyroid-stimulating hormone concentration, Decreased testicular size, Premat...	OMIM:241080
Gonadoblastoma	Ambiguous genitalia, Increased serum testosterone level, Gonadal dysgenesis with female appearanc...	ORPHA:206484
Ovarian Dysgenesis 10	Decreased serum estradiol, Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated cir...	OMIM:619834
Polyendocrine-Polyneuropathy Syndrome	Central hypothyroidism, Short stature, Hypogonadism, Postnatal growth retardation	OMIM:616113
Spermatogenic Failure 5	Multiflagellar spermatozoa, Male infertility, Macrocephalic sperm head	OMIM:243060
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the tibia, Aplasia/Hypoplasia of the thumb, Patellar aplasia, Synostosis of...	ORPHA:988
Spermatogenic Failure 16	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:617187
Spermatogenic Failure 44	Male infertility, Reduced sperm motility, Acephalic spermatozoa	OMIM:619044
Plin1-Related Familial Partial Lipodystrophy	Hyperinsulinemia, Insulin-resistant diabetes mellitus at puberty, Abnormal circulating hormone co...	ORPHA:280356
Pulmonary Nodular Lymphoid Hyperplasia	Plasmacytosis, Follicular hyperplasia, Nodular pattern on pulmonary HRCT, Mediastinal lymphadenop...	ORPHA:60026
Deafness-Infertility Syndrome	Abnormal sperm tail morphology, Abnormal spermatogenesis, Reduced sperm motility, Male infertilit...	OMIM:611102
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Hand monodactyly, Absent tibia, Bifid femur, Aplasia of the ulna, Split hand, Foot monodactyly	OMIM:228250
Sting-Associated Vasculopathy, Infantile-Onset	Leukopenia, Anemia, Malar rash, Skin rash, Lymphopenia, Myositis, Pustule, Follicular hyperplasia...	OMIM:615934
Spermatogenic Failure 38	Absent sperm flagella, Tapered sperm head, Abnormal axonemal organization of respiratory motile c...	OMIM:618433
Cholestasis, Progressive Familial Intrahepatic, 10	Increased total bilirubin, Elevated circulating alanine aminotransferase concentration, Jaundice,...	OMIM:619868
Dyskeratosis Congenita, Autosomal Dominant 1	Leukopenia, Anemia, Cirrhosis, Squamous cell carcinoma of the skin, Myelodysplasia, Interstitial ...	OMIM:127550
Acquired Idiopathic Sideroblastic Anemia	Acute myeloid leukemia, Neutropenia, Megaloblastic erythroid hyperplasia, Myelodysplasia, Normocy...	ORPHA:75564
Non-Acquired Panhypopituitarism	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	ORPHA:90695
Progeria-Short Stature-Pigmented Nevi Syndrome	Abnormality of thalamus morphology, Decreased serum estradiol, Short stature, Small for gestation...	ORPHA:2959
Seckel Syndrome 7	Central hypothyroidism, Severe short stature, Primary amenorrhea, Intrauterine growth retardation...	OMIM:614851
Ovarian Dysgenesis 1	Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea	OMIM:233300
Male Infertility With Teratozoospermia Due To Single Gene Mutation	Globozoospermia, Abnormal sperm tail morphology, Abnormal spermatogenesis, Decreased testicular s...	ORPHA:399808
Congenital Rubella Syndrome	Anemia, Short stature, Aplasia/Hypoplasia of the iris, Skin rash, Jaundice, Intrauterine growth r...	ORPHA:290
Premature Ovarian Failure 8	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating follicle stimula...	OMIM:615723
Premature Ovarian Failure 1	Irregular menstruation, Increased circulating gonadotropin level, Premature ovarian insufficiency	OMIM:311360
Gilbert Syndrome	Unconjugated hyperbilirubinemia, Jaundice, Hepatic failure, Elevated hepatic transaminase	OMIM:143500
Chromosome 17P13.3, Telomeric, Duplication Syndrome	Short tibia, Short toe, Short phalanx of finger, Absent toe, Short metacarpal, Absent tibia, Camp...	OMIM:612576
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia	Decreased testicular size, Infertility, Cryptorchidism, Primary amenorrhea, Hypogonadotropic hypo...	OMIM:146110
Lymphoproliferative Syndrome 1	Leukopenia, Anemia, Decreased circulating antibody level, B-cell lymphoma, Stomatitis, Pancytopen...	OMIM:613011
Sarcoidosis, Susceptibility To, 2	Abnormal pulmonary interstitial morphology, Pneumothorax, Bronchiectasis, Erythema nodosum, Uveit...	OMIM:612387
Premature Ovarian Failure 15	Irregular menstruation, Secondary amenorrhea, Decreased cirrculating antimullerian hormone circul...	OMIM:618096
Satoyoshi Syndrome	Short stature, Abnormality of the ovary, Abnormality of the uterus, Hypoplasia of the ovary, Neph...	ORPHA:3130
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal irregularity, Short lower limbs, Tibial bowing, Femoral bowing, Flared me...	ORPHA:93356
Pulmonary Hemosiderosis	Iron deficiency anemia, Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage	OMIM:178550
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism	Decreased circulating follicle stimulating hormone concentration, Delayed puberty, Cryptorchidism...	OMIM:619761
Adult-Onset Still Disease	Abnormal circulating lipid concentration, Hepatitis, Arthritis, Skin rash, Neutrophilia, Elevated...	ORPHA:829
Premature Ovarian Failure 5	Secondary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the ovary, Reduced antral fo...	OMIM:611548
Spermatogenic Failure 75	Early spermatogenesis maturation arrest, Elevated circulating follicle stimulating hormone level,...	OMIM:619949
Rajab Interstitial Lung Disease With Brain Calcifications 2	Abnormal pulmonary interstitial morphology, Short stature, Elevated hepatic transaminase, Hypopit...	OMIM:619013
46,Xy Sex Reversal 1	Ambiguous genitalia, Abnormality of female external genitalia, Gonadoblastoma, Sex reversal, Abse...	OMIM:400044
Autosomal Recessive Spastic Paraplegia Type 26	Premature ovarian insufficiency, Decreased serum testosterone concentration	ORPHA:101006
Hydatidiform Mole	Menometrorrhagia, Hyperthyroidism, Enlarged uterus	ORPHA:99927
Mixed Connective Tissue Disease	Leukopenia, Abnormal pulmonary interstitial morphology, Myocarditis, Hemolytic anemia, Pleuritis,...	ORPHA:809
Orofaciodigital Syndrome Type 10	Short tibia, Short toe, Mesomelic leg shortening, Micrognathia, Metatarsal synostosis, Oligodacty...	ORPHA:2756
Interstitial Lung And Liver Disease	Abnormal pulmonary interstitial morphology, Anemia, Intraalveolar phospholipid accumulation, Hepa...	OMIM:615486
Preeclampsia/Eclampsia 1	Thrombocytopenia, Elevated hepatic transaminase, Intrauterine growth retardation	OMIM:189800
Gordon Holmes Syndrome	Primary amenorrhea, Secondary amenorrhea, Absence of pubertal development, Oligomenorrhea, Hypogo...	OMIM:212840
Premature Ovarian Failure 10	Hypothyroidism, Decreased testicular size, Premature ovarian insufficiency, Azoospermia, Hypoplas...	OMIM:612885
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Ambiguous genitalia, Premature thelarche, Precocious puberty, Ambiguous genitalia, female, Decrea...	ORPHA:90795
Spermatogenic Failure, X-Linked, 2	Spermatogenesis maturation arrest, Testicular atrophy, Male infertility, Azoospermia	OMIM:309120
Idiopathic Pulmonary Hemosiderosis	Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Hepatosplenomegaly, Reticular pat...	ORPHA:99931
Bile Acid Synthesis Defect, Congenital, 4	Hepatic failure, Hyperbilirubinemia, Elevated hepatic transaminase, Decreased serum bile acid con...	OMIM:214950
Acute Interstitial Pneumonia	Reduced hematocrit, Nodular pattern on pulmonary HRCT, Bronchiectasis, Subpleural honeycombing, P...	ORPHA:79126
Premature Ovarian Failure 9	Premature ovarian insufficiency, Hypoplasia of the ovary, Elevated circulating luteinizing hormon...	OMIM:615724
46,Xy Sex Reversal 7	Abnormal epididymis morphology, Gonadoblastoma, Gonadal dysgenesis, male, Sex reversal, Hypoplasi...	OMIM:233420
Hypertriglyceridemia, Transient Infantile	Hepatic fibrosis, Elevated hepatic transaminase, Hepatic steatosis, Elevated gamma-glutamyltransf...	OMIM:614480
Glycogen Storage Disease Vi	Hypercholesterolemia, Elevated hepatic transaminase, Increased hepatic glycogen content, Hyperlip...	OMIM:232700
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Anemia, Splenomegaly, Erythroid hyperplasia, Refractory anemia with ringe...	OMIM:133180
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Microvesicular hepatic steatosis, Hemolytic anemia, Unconjugated hyperbilirubinemia, Elliptocytos...	OMIM:618278
Spermatogenic Failure 12	Abnormal male germ cell morphology, Infertility, Azoospermia	OMIM:615413
Anencephaly 1	Spina bifida, Anencephaly	OMIM:206500
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Decreased circulating total IgM, Decreased proportion of CD8-positive T cells, Abnormality of the...	OMIM:611926
Xp22.3 Microdeletion Syndrome	Hypogonadotropic hypogonadism, Polycystic ovaries, Secondary amenorrhea, Decreased fertility	ORPHA:1643
Congenital Toxoplasmosis	Anemia, Ascites, Jaundice, Elevated hepatic transaminase, Lymphadenopathy, Microphthalmia, Hepato...	ORPHA:858
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Adrenogenital syndrome, Increased serum testosterone level, Decreased circulating aldosterone lev...	OMIM:202010
Tibial Aplasia-Ectrodactyly Syndrome	Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ...	ORPHA:3329
Fanconi Anemia, Complementation Group G	Anemia, Myelodysplasia, Microphthalmia, Growth delay, Thrombocytopenia, Neutropenia, Leukemia	OMIM:614082
Optic Atrophy 9	Optic disc pallor, Optic atrophy	OMIM:616289
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Exercise-induced hemolysis, Increased mean corpuscular hemoglobin concentration, Splenomegaly, He...	OMIM:194380
Tibial Hemimelia	Short tibia, Polydactyly, Coxa valga, Hip dislocation, Metatarsus adductus, Aplasia of the 2nd me...	ORPHA:93322
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Hepatitis, Increased circulating antibody level, Decreased proportion o...	ORPHA:169160
Idiopathic Hypereosinophilic Syndrome	Myelodysplasia, Blurred vision, Elevated hepatic transaminase, Generalized lymphadenopathy, Eczem...	ORPHA:3260
Meningioma	Enlarged pituitary gland, Impotence, Decreased circulating cortisol level, Secondary growth hormo...	ORPHA:2495
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality	Leukopenia, Acute myeloid leukemia, Abnormality of neutrophil morphology, Myelodysplasia, Erythro...	ORPHA:86841
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Skin rash, Neutrophilia, Stomatitis, Pustule, Elevated circulating C-reactive prot...	OMIM:612852
Post-Traumatic Pituitary Deficiency	Decreased response to growth hormone stimulation test, Decreased testicular size, Decreased circu...	ORPHA:95619
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Dilated cardiomyopathy, Polycystic ovaries, Precocious puberty, Hypergonadotropic hypogonadism	ORPHA:2229
Immunodeficiency 102	Bronchiectasis, Recurrent sinusitis, Hepatomegaly, Decreased proportion of CD4-positive helper T ...	OMIM:301082
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6	Decreased circulating antibody level, Myelodysplasia, Pancytopenia, Abnormally low T cell recepto...	OMIM:619767
Deafness-Infertility Syndrome	Male infertility, Azoospermia	ORPHA:94064
Fowler Urethral Sphincter Dysfunction Syndrome	Abnormality of the ovary, Polycystic ovaries, Menorrhagia, Oligomenorrhea, Abnormality of the ure...	ORPHA:2795
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Patellar aplasia, Hand monodactyly, Absent tibia, Short hallux, Split foot, Split hand, Aplasia o...	OMIM:119100
Retinitis Pigmentosa 36	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:610599
Androgen Insensitivity Syndrome	Ambiguous genitalia, male, Abnormality of the uterus, Delayed puberty, Male pseudohermaphroditism...	ORPHA:754
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Female infertility, Situs inversus totalis, Dextrocardia, Goiter	OMIM:617577
Congenital Disorder Of Glycosylation, Type Iio	Elevated alkaline phosphatase of bone origin, Hypercholesterolemia, Cirrhosis, Hepatic failure, D...	OMIM:616828
Polyembryoma	Irregular menstruation, Isosexual precocious puberty, Macroorchidism, Increased serum testosteron...	ORPHA:180229
Cholestasis, Progressive Familial Intrahepatic, 12	Elevated circulating alanine aminotransferase concentration, Jaundice, Hyperbilirubinemia, Elevat...	OMIM:620010
Autoimmune Hepatitis	Increased total bilirubin, Cirrhosis, Fulminant hepatitis, Increased circulating antibody level, ...	ORPHA:2137
Leptin Deficiency Or Dysfunction	Hypogonadism, Decreased testicular size, Decreased serum leptin, Primary amenorrhea, Micropenis	OMIM:614962
Complement Component 4B Deficiency	Recurrent pneumonia, Recurrent sinusitis, Recurrent otitis media, Chronic active hepatitis	OMIM:614379
Thrombocytopenia 2	Thrombocytopenia, Leukocytosis	OMIM:188000
X-Linked Agammaglobulinemia	Conjunctivitis, Anemia, Osteomyelitis, Neutropenia, Short stature, Hepatitis, Skin rash, Arthriti...	ORPHA:47
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Jaundice, Elevated...	OMIM:619658
Chronic Beryllium Disease	Abnormal proportion of CD4-positive T cells, Reticulonodular pattern on pulmonary HRCT, Mediastin...	ORPHA:133
Autoimmune Lymphoproliferative Syndrome, Type Iii	Recurrent sinusitis, Generalized lymphadenopathy, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,...	OMIM:615559
Wilson Disease	Cirrhosis, Anemia, Hepatitis, Arthritis, Jaundice, Elevated hepatic transaminase, Pathologic frac...	ORPHA:905
Lysosomal Acid Lipase Deficiency	Hepatosplenomegaly, Hepatic steatosis, Bone-marrow foam cells, Hepatomegaly, Hypercholesterolemia...	OMIM:278000
Bone Marrow Failure Syndrome 5	Anemia, Short stature, Decreased circulating antibody level, Erythroid hypoplasia, Testicular atr...	OMIM:618165
Orofaciodigital Syndrome Viii	Short tibia, Polydactyly, Syndactyly	OMIM:300484
Testicular Regression Syndrome	Decreased fertility, Ambiguous genitalia, Decreased testicular size, Abnormal male internal genit...	ORPHA:983
Primary Biliary Cholangitis	Hepatic fibrosis, Biliary cirrhosis, Cirrhosis, Hepatic failure, Abnormal circulating lipid conce...	ORPHA:186
Bile Acid Synthesis Defect, Congenital, 5	Hepatic failure, Hepatic fibrosis, Increased total iron binding capacity, Jaundice, Hyperbilirubi...	OMIM:616278
46,Xy Complete Gonadal Dysgenesis	Hypogonadotropic hypogonadism, Polycystic ovaries, Male pseudohermaphroditism, Testicular dysgenesis	ORPHA:242
Aromatase Deficiency	Primary amenorrhea, Enlarged polycystic ovaries, Ambiguous genitalia, female, Type II diabetes me...	ORPHA:91
Acromesomelic Dysplasia 2B	Short phalanx of finger, Deviation of finger, Malaligned carpal bone, Patellar dislocation, Rhizo...	OMIM:228900
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Leukopenia, Anemia, Increased circulating antibody level, Enlarged kidney, Hepatomegaly, Extramed...	OMIM:615285
Cholestasis-Lymphedema Syndrome	Cirrhosis, Jaundice, Elevated hepatic transaminase, Erysipelas, Elevated circulating alkaline pho...	OMIM:214900
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Elevated hepatic transaminase, Chilblains, Hepatosplenomegaly	OMIM:610329
Congenital Disorder Of Glycosylation, Type Iih	Elevated serum transaminases during infections, Interface hepatitis, Elevated circulating asparta...	OMIM:611182
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Thin bony cortex, Generalized bone demineralization, Rickets of the lower limbs, Sparse bone trab...	OMIM:600785
Hemochromatosis Type 2	Abnormality of iron homeostasis, Abnormality of endocrine pancreas physiology, Elevated transferr...	ORPHA:79230
Immunodeficiency 32B	Abnormal circulating IgG level, Anemia, Monocytopenia, Bronchiectasis, Recurrent respiratory infe...	OMIM:226990
Diffuse Alveolar Hemorrhage	Anemia, Irregular septal thickening on pulmonary HRCT, Leukocytosis, Elevated circulating creatin...	ORPHA:90060
Leber Congenital Amaurosis 13	Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret...	OMIM:612712
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Hyperpitui...	ORPHA:91351
Hypogonadism, Male	Male hypogonadism, Testicular atrophy, Hypospadias, Micropenis	OMIM:241100
Disorder Of Bile Acid Synthesis	Abnormality of the liver, Elevated hepatic transaminase, Biliary tract abnormality, Rickets, Chol...	ORPHA:79168
Polycystic Ovary Syndrome 1	Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea	OMIM:184700
Graft Versus Host Disease	Inflammatory abnormality of the eye, Fasciitis, Elevated hepatic transaminase, Hepatosplenomegaly...	ORPHA:39812
Leishmaniasis	Leukopenia, Anemia, Rhinitis, Abnormal macrophage morphology, Increased circulating antibody leve...	ORPHA:507
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus	OMIM:601076
X-Linked Lymphoproliferative Disease	T lymphocytopenia, Elevated hepatic transaminase, Hepatosplenomegaly, Increased T cell count, Bon...	ORPHA:2442
Ovarian Dysgenesis 4	Decreased body weight, Decreased serum estradiol, Short stature, Primary amenorrhea, Elevated cir...	OMIM:616185
Dyskeratosis Congenita, Autosomal Dominant 2	Leukopenia, Hepatic fibrosis, Short stature, Pancytopenia, Thrombocytopenia, Bone marrow hypocell...	OMIM:613989
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating alanine aminotransferase concentration, Short stature, Elevated circulating ...	OMIM:614727
Familial Hemophagocytic Lymphohistiocytosis	Abnormality of serum cytokine level, Elevated hepatic transaminase, Hepatomegaly, Erythroderma, D...	ORPHA:540
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia	Decreased testicular size, Hypogonadotropic hypogonadism, Primary amenorrhea, Cryptorchidism	OMIM:614858
Mccune-Albright Syndrome	Decreased fertility, Macroorchidism, Increased circulating prolactin concentration, Precocious pu...	ORPHA:562
Spinocerebellar Ataxia Type 32	Testicular atrophy, Male infertility, Azoospermia	ORPHA:276183
Double Uterus-Hemivagina-Renal Agenesis Syndrome	Uterus didelphys, Metrorrhagia, Partial vaginal septum, Abnormal uterine cervix morphology, Dyspa...	ORPHA:3411
Congenital Bile Acid Synthesis Defect Type 1	Cirrhosis, Splenomegaly, Jaundice, Elevated hepatic transaminase, Biliary tract abnormality, Neon...	ORPHA:79301
Sea-Blue Histiocyte Disease	Elevated circulating alanine aminotransferase concentration, Sea-blue histiocytosis, Cirrhosis, E...	OMIM:269600
Mayer-Rokitansky-Kuster-Hauser Syndrome	Aplasia of the vagina, Amenorrhea, Hypoplasia of the uterus	OMIM:277000
Autoinflammation With Infantile Enterocolitis	Anemia, Reduced natural killer cell count, Enterocolitis, Reduced natural killer cell activity, S...	OMIM:616050
Autoimmune Disease, Multisystem, Infantile-Onset, 1	Desquamative interstitial pneumonitis, Decreased circulating antibody level, Short stature, Neutr...	OMIM:615952
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Increased size of the clitoris, Ambiguous genitalia, female, Abnormality of the ovary, Abnormalit...	ORPHA:2975
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Lymphoma, Decreased CD4:CD8 ratio, Decreased T cell activation, Bronchiectasis, Recurrent respira...	OMIM:300853
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Ambiguous genitalia, Decreased circulating aldosterone level, Ambiguous genitalia, female, Decrea...	ORPHA:90794
Spinocerebellar Ataxia 32	Testicular atrophy, Infertility, Azoospermia	OMIM:613909
Acrofacial Dysostosis Syndrome Of Rodriguez	Short tibia, 11 pairs of ribs, Triphalangeal thumb, Micrognathia, Clinodactyly, Oligodactyly, Ove...	OMIM:201170
Mesomelic Dysplasia, Savarirayan Type	Metatarsus valgus, Broad tibial metaphyses, Flared radial metaphysis, Hip dislocation, Narrow ili...	ORPHA:85170
Hypogonadism With Low-Grade Mental Deficiency And Microcephaly	Male hypogonadism, Azoospermia	OMIM:241000
Blepharophimosis, Ptosis, And Epicanthus Inversus	Irregular menstruation, Premature ovarian insufficiency, Increased circulating gonadotropin level...	OMIM:110100
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Chilblains, Hepatomegaly, Intrauterine growth retardation, Thrombocytopenia, Sp...	OMIM:615010
Hypogonadotropic Hypogonadism 27 Without Anosmia	Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi...	OMIM:619755
Temple Syndrome	Precocious puberty, Decreased response to growth hormone stimulation test, Short stature, Small f...	ORPHA:254516
Congenital Enterovirus Infection	Leukopenia, Hepatic failure, Anemia, Neutropenia, Abnormal macrophage morphology, Hepatitis, Skin...	ORPHA:292
Tibial Hemimelia	Absent tibia	OMIM:275220
Protoporphyria, Erythropoietic, X-Linked	Iron deficiency anemia, Increased erythrocyte protoporphyrin concentration, Elevated hepatic tran...	OMIM:300752
Prolactin Deficiency, Isolated	Irregular menstruation, Infertility	OMIM:264110
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,...	OMIM:228930
Hemochromatosis, Type 2B	Hepatic fibrosis, Cirrhosis, Splenomegaly, Anemia, Elevated transferrin saturation, Elevated hepa...	OMIM:613313
Porphyria Cutanea Tarda	Abnormal circulating porphyrin concentration, Recurrent bacterial skin infections, Periportal fib...	ORPHA:101330
Acheiropodia	Aplasia of the ulna, Upper limb phocomelia, Absent radius, Abnormal metaphysis morphology, Abnorm...	ORPHA:931
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Visual loss, Lymphadenopathy, Abnormal neutrophil count, Chroni...	ORPHA:3226
Amed Syndrome, Digenic	Failure to thrive, Hypoplasia of the uterus, Short stature, Adrenal hypoplasia	OMIM:619151
Specific Granule Deficiency 1	Absent neutrophil specific granules, Hyposegmentation of neutrophil nuclei, Absent neutrophil lac...	OMIM:245480
Persistent Polyclonal B-Cell Lymphocytosis	Lymphocytosis, Splenomegaly	OMIM:606445
46,Xx Gonadal Dysgenesis	Decreased fertility, Ambiguous genitalia, Decreased serum estradiol, Short stature, Secondary ame...	ORPHA:243
Thrombocytopenic Purpura, Autoimmune	Thrombocytopenia	OMIM:188030
Kennedy Disease	Decreased fertility, Type II diabetes mellitus, Testicular atrophy, Erectile dysfunction	ORPHA:481
Autosomal Agammaglobulinemia	Conjunctivitis, Osteomyelitis, Neutropenia, Bronchiectasis, Hepatitis, Arthritis, Skin rash, Sinu...	ORPHA:33110
Weismann-Netter Syndrome	Anemia, Abnormality of the humerus, Tibial bowing, Femoral bowing, Abnormal morphology of ulna, A...	ORPHA:3344
46,Xx Ovotesticular Disorder Of Sex Development	Urogenital sinus anomaly, Decreased fertility, Ambiguous genitalia, Bifid scrotum, Abnormal male ...	ORPHA:2138
Babesiosis	Leukopenia, Hepatic failure, Hemolytic anemia, Jaundice, Recurrent pharyngitis, Hepatomegaly, Thr...	ORPHA:108
Van Buchem Disease	Elevated circulating alkaline phosphatase concentration, Increased bone mineral density, Cranial ...	OMIM:239100
Polymyositis	Breast carcinoma, Abnormal pulmonary interstitial morphology, Arthritis, Elevated circulating ald...	ORPHA:732
Aggressive Systemic Mastocytosis	Anemia, Maculopapular exanthema, Decreased liver function, Elevated total serum tryptase, Hypersp...	ORPHA:98850
Brachydactyly-Ectrodactyly With Fibular Aplasia Or Hypoplasia	Short phalanx of finger, Aplasia/Hypoplasia of the fibula, Split foot, Brachydactyly, Fibular apl...	OMIM:113310
Axial Osteomalacia	Increased bone mineral density, Polycystic liver disease, Osteomalacia, Elevated circulating crea...	OMIM:109130
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia	Septic arthritis, Megaloblastic anemia, Decreased circulating antibody level, Hyperhomocystinemia...	OMIM:617780
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Elevated circulating creatine kinase concentration, Pulmonary fibrosis, Increased circulating lac...	ORPHA:254361
Isolated Agammaglobulinemia	Anemia, Recurrent respiratory infections, Short stature, Skin rash, Inflammatory abnormality of t...	ORPHA:229717
Idiopathic Pulmonary Fibrosis	Abnormal pulmonary interstitial morphology, Bronchiectasis, Honeycomb lung, Reticular pattern on ...	ORPHA:2032
Gaucher Disease Type 1	Leukopenia, Anemia, Abnormal pulmonary interstitial morphology, Cirrhosis, Increased circulating ...	ORPHA:77259
Adrenocortical Carcinoma	Increased serum estradiol, Hyperhidrosis, Hyperaldosteronism, Weight loss, Increased circulating ...	ORPHA:1501
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Myelodysplasia, Bone marrow hypocellularity, Thrombocytopenia, Oropharyng...	OMIM:305000
Hermansky-Pudlak Syndrome	Abnormality of thrombocytes, Amblyopia, Squamous cell carcinoma of the skin, Ocular albinism, Iri...	ORPHA:79430
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency	Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Hepatocellular carcinoma, Portal fibr...	ORPHA:369
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Cirrhosis, Anemia, Jaundice, Elevated hepatic transaminase, Erythroid hyperplasia, Hepatosplenome...	OMIM:616860
Tularemia	Conjunctivitis, Anemia, Brain abscess, Erythema nodosum, Increased circulating antibody level, Sk...	ORPHA:3392
Azoospermia, Obstructive, With Nephrolithiasis	Spermatocele, Male infertility, Obstructive azoospermia	OMIM:301060
Hepatoportal Sclerosis	Leukopenia, Anemia, Nodular regenerative hyperplasia of liver, Abnormal liver parenchyma morpholo...	ORPHA:64743
Aromatase Deficiency	Female pseudohermaphroditism, Ovarian cyst, Hypergonadotropic hypogonadism, Primary amenorrhea	OMIM:613546
Cholestasis, Intrahepatic, Of Pregnancy, 1	Jaundice, Elevated hepatic transaminase, Intrahepatic cholestasis, Increased serum bile acid conc...	OMIM:147480
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Combined Pituitary Hormone Deficiencies, Genetic Forms	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Absence of ...	ORPHA:95494
Acromesomelic Dysplasia 3	Disproportionate short-limb short stature, Elevated circulating luteinizing hormone level, Hyperg...	OMIM:609441
Niemann-Pick Disease, Type C2	Low cholesterol esterification rate, Sea-blue histiocytosis, Jaundice, Fetal ascites, Bone-marrow...	OMIM:607625
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Anemia, Hypersplenism, Hepatomegaly, Hypocholesterolemia, Thrombocytopenia, Splenomegaly	OMIM:610539
Satoyoshi Syndrome	Short stature, Amenorrhea, Hypoplasia of the uterus	OMIM:600705
Hemochromatosis, Type 2A	Infertility, Azoospermia, Dilated cardiomyopathy, Congestive heart failure, Arrhythmia, Hypogonad...	OMIM:602390
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Cirrhosis, Granulomatous cholangitis, Granuloma, Sclerosing cholangitis, Interface hepatitis, Ele...	ORPHA:562639
Classic Galactosemia	Decreased fertility in females, Anxiety, Secondary amenorrhea, Premature ovarian insufficiency, D...	ORPHA:79239
Androgen Insensitivity Syndrome	Labial hypoplasia, Elevated circulating luteinizing hormone level, Blind vagina, Primary amenorrh...	OMIM:300068
Perrault Syndrome 2	Streak ovary, Amenorrhea	OMIM:614926
Hemochromatosis, Type 3	Cirrhosis, Anemia, Arthritis, Elevated transferrin saturation, Elevated hepatic transaminase, Lym...	OMIM:604250
Hepatitis, Fulminant Viral, Susceptibility To	Hepatic failure, Fulminant hepatitis, Jaundice, Elevated hepatic transaminase, Hashimoto thyroidi...	OMIM:618549
Immunodeficiency With Hyper-Igm, Type 1	Enteroviral encephalitis, Cirrhosis, Splenomegaly, Chronic oral candidiasis, Hemolytic anemia, He...	OMIM:308230
Immunodeficiency, Common Variable, 8, With Autoimmunity	Bronchiectasis, Recurrent sinusitis, Generalized lymphadenopathy, Colitis, Thrombocytopenia, Pneu...	OMIM:614700
Riddle Syndrome	Pulmonary fibrosis, Short stature, Decreased circulating IgG level	OMIM:611943
Refractory Anemia	Neutropenia, Myelodysplasia, Normocytic anemia, Single lineage myelodysplasia, Erythroid hypoplas...	ORPHA:98826
Scleroderma	Hypereosinophilia, Abnormal pulmonary interstitial morphology, Myelitis, Osteomyelitis, Myocardit...	ORPHA:801
Immunodeficiency 40	Respiratory tract infection, Elevated circulating alanine aminotransferase concentration, T lymph...	OMIM:616433
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Abnormal macrophage morphology, Decreased circulating antibody lev...	ORPHA:2585
Spastic Paraplegia-Precocious Puberty Syndrome	Precocious puberty in males, Hyperplasia of the Leydig cells	ORPHA:2826
Myelolymphatic Insufficiency	Leukopenia, Hyposegmentation of neutrophil nuclei	OMIM:310350
Aicardi-Goutieres Syndrome 2	Lymphocytosis	OMIM:610181
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Short stature, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Cryptor...	OMIM:613990
Hepatic Adenomas, Familial	Polycystic ovaries, Maturity-onset diabetes of the young	OMIM:142330
Mevalonic Aciduria	Anemia, Short stature, Skin rash, Morbilliform rash, Increased circulating IgD level, Elevated he...	OMIM:610377
Congenital Amegakaryocytic Thrombocytopenia	Anemia, Thrombocytopenia, Abnormal hemoglobin, Short stature	ORPHA:3319
Avian Influenza	Conjunctivitis, Leukopenia, Myelitis, Hepatitis, Elevated hepatic transaminase, Lymphopenia, Elev...	ORPHA:454836
Cortisone Reductase Deficiency 1	Infertility, Precocious puberty, Oligomenorrhea	OMIM:604931
Hermansky-Pudlak Syndrome 4	Reduced visual acuity, Pulmonary fibrosis, Ocular albinism, Absent platelet dense granules	OMIM:614073
Spastic Paraplegia 26, Autosomal Recessive	Emotional lability, Decreased serum testosterone concentration	OMIM:609195
Eiken Syndrome	Short phalanx of finger, Broad foot, Short toe, Metaphyseal irregularity, Abnormal fingertip morp...	ORPHA:79106
Orofaciodigital Syndrome Iv	Short tibia, Toe syndactyly, Micrognathia, Foot polydactyly, Short finger, Hand polydactyly, Clin...	OMIM:258860
Griscelli Syndrome	Leukopenia, Abnormal circulating lipid concentration, Short stature, Decreased circulating antibo...	ORPHA:381
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, Myelodysplasia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Micr...	ORPHA:231401
Gaucher Disease	Anemia, Abnormal pulmonary interstitial morphology, Cirrhosis, Osteomyelitis, Short stature, Incr...	ORPHA:355
Mullerian Aplasia And Hyperandrogenism	Aplasia of the vagina, Aplasia of the fallopian tube, Aplasia of the uterus, Primary amenorrhea, ...	OMIM:158330
Congenital Bile Acid Synthesis Defect Type 4	Elevated hepatic transaminase, Abnormal circulating enzyme concentration or activity, Elevated ci...	ORPHA:79095
Pituitary Adenoma 1, Multiple Types	Irregular menstruation, Increased circulating prolactin concentration, Pituitary adenoma, Prolact...	OMIM:102200
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Antisynthetase Syndrome	Abnormal pulmonary interstitial morphology, Myocarditis, Skin rash, Keratoconjunctivitis sicca, E...	ORPHA:81
Congenital Bilateral Absence Of Vas Deferens	Oligospermia, Absent vas deferens, Male infertility, Obstructive azoospermia	ORPHA:48
Immunodeficiency By Defective Expression Of Mhc Class Ii	Rhinitis, Panhypogammaglobulinemia, T lymphocytopenia, Decreased circulating antibody level, Skin...	ORPHA:572
Dyskeratosis Congenita, Autosomal Recessive 1	Hepatic fibrosis, Pterygium, Pancytopenia, Bone marrow hypocellularity, Pulmonary fibrosis, Throm...	OMIM:224230
Phosphoglycerate Dehydrogenase Deficiency	Megaloblastic anemia, Decreased testicular size, Reduced 3-phosphoglycerate dehydrogenase activit...	OMIM:601815
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency	Hepatitis, Cholesterol gallstones, Hepatic steatosis, Increased LDL cholesterol concentration, Ch...	ORPHA:209902
Sarcoidosis	Abnormal lymph node morphology, Abnormal conjunctiva morphology, Pneumothorax, Bronchiectasis, Ke...	ORPHA:797
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Anemia, Hepatitis, Arthritis, Coombs-positive hemolytic anemia, Eczema, Autoimmune thrombocytopen...	OMIM:304790
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hyperinsulinemia, Secondary amenorrhea, Decreased testicular size, Type II diabetes mellitus, Pol...	ORPHA:3085
Primary Sclerosing Cholangitis	Elevated alkaline phosphatase of hepatic origin, Cholangiocarcinoma, Elevated hepatic transaminas...	ORPHA:171
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Abnormal platelet function, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Aicardi-Goutieres Syndrome 4	Elevated hepatic transaminase, Pancytopenia, Hepatosplenomegaly, Hepatomegaly, Intrauterine growt...	OMIM:610333
Primary Myelofibrosis	Anemia, Increased circulating lactate dehydrogenase concentration, Pancytopenia, Hepatosplenomega...	ORPHA:824
Preeclampsia	Elevated hepatic transaminase, Polycystic ovaries, Abnormality of the hepatic vasculature, Elevat...	ORPHA:275555
Immunodeficiency 56	Hepatic failure, Cirrhosis, Panhypogammaglobulinemia, Bronchiectasis, Recurrent sinusitis, Recurr...	OMIM:615207
Immunodeficiency 27A	Anemia, Enlarged mesenteric lymph node, Hepatosplenomegaly, Lymphadenopathy, Increased inflammato...	OMIM:209950
Premature Ovarian Failure 11	Elevated circulating follicle stimulating hormone level, Oligomenorrhea, Secondary amenorrhea	OMIM:616946
Generalized Glucocorticoid Resistance Syndrome	Ambiguous genitalia, Precocious puberty, Decreased circulating aldosterone level, Increased circu...	ORPHA:786
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Lymphadenitis, Abnormal natural killer cell count, Decreased circulating total IgM, Decreased cir...	ORPHA:331206
Autoimmune Lymphoproliferative Syndrome, Type Iia	Coombs-positive hemolytic anemia, Eosinophilia, Hepatomegaly, Elevated proportion of CD4-negative...	OMIM:603909
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Decreased fertility, Decreased circulating progesterone, Decreased serum estradiol, Streak ovary,...	ORPHA:572333
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Q Fever	Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Pericarditis, Hepatomegaly, ...	ORPHA:781
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Primary amenorrhea, Small pituitary gland, Delayed puberty, Cryptorchidism, Hypogonadotropic hypo...	OMIM:612702
Congenital Disorder Of Glycosylation, Type Iir	Decreased circulating antibody level, Jaundice, Elevated hepatic transaminase, Decreased proporti...	OMIM:301045
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate concentration, Decrease...	ORPHA:95699
Hemophagocytic Lymphohistiocytosis, Familial, 2	Increased total bilirubin, Leukopenia, Anemia, Infectious encephalitis, Reduced natural killer ce...	OMIM:603553
Gaucher Disease, Type I	Anemia, Abnormal pulmonary interstitial morphology, Hypersplenism, Multiple myeloma, Pancytopenia...	OMIM:230800
Sarcoidosis, Susceptibility To, 1	Bronchiectasis, Blurred vision, Generalized lymphadenopathy, Pleural effusion, Hepatomegaly, Sple...	OMIM:181000
Cholestasis, Progressive Familial Intrahepatic, 8	Hepatic fibrosis, Elevated circulating alanine aminotransferase concentration, Cirrhosis, Scleros...	OMIM:619662
Drug Reaction With Eosinophilia And Systemic Symptoms	Tubulointerstitial nephritis, Myocarditis, Hepatitis, Skin rash, Thyroiditis, Interstitial pneumo...	ORPHA:139402
Eosinophilia, Familial	Anemia, Recurrent bronchitis, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Glucocorticoid Resistance, Generalized	Irregular menstruation, Increased serum testosterone level, Increased circulating cortisol level,...	OMIM:615962
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia	Decreased testicular size, Diabetes mellitus, Absence of pubertal development, Cryptorchidism, Pr...	OMIM:610628
Familial Glucocorticoid Deficiency	Leydig cell neoplasia, Precocious puberty, Decreased circulating aldosterone level, Weight loss, ...	ORPHA:361
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Malignant mesothelioma, Subpleural honeycombing, Lung...	ORPHA:2302
Biliary Atresia, Extrahepatic	Increased total bilirubin, Atretic gallbladder, Cirrhosis, Extrahepatic biliary duct atresia, Unc...	OMIM:210500
Alpha-Heavy Chain Disease	Lymphoma, Anemia, Lymphadenopathy, Growth delay, Hepatomegaly, Dysgammaglobulinemia, Ascites, Hyp...	ORPHA:100025
Bone Marrow Failure Syndrome 4	Leukopenia, Anemia, Rhizomelia, Short stature, Decreased circulating antibody level, Eczema, Bone...	OMIM:618116
Non-Involuting Congenital Hemangioma	Tufted angioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Hepatic hemangi...	ORPHA:141179
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Ambiguous genitalia, Increased serum testosterone level	OMIM:618901
Retinitis Pigmentosa 71	Rod-cone dystrophy, Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of h...	OMIM:616394
Premature Ovarian Failure 2A	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Elevate...	OMIM:300511
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Decreased prealbumin level, Crusting erythematous dermatitis, Elevated hepatic transaminase, Ecze...	ORPHA:37042
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Broad femoral head, Fibular bowing, Exostoses of the radius, Hypoplasia ...	ORPHA:85188
Immunodeficiency 64 With Lymphoproliferation	Bronchiectasis, Recurrent lower respiratory tract infections, Defective T cell proliferation, B-c...	OMIM:618534
Sengers Syndrome	Myopia, Thrombocytopenia, Growth delay, Developmental cataract	OMIM:212350
Fibular Dimelia-Diplopodia Syndrome	Absent tibia	ORPHA:1757
Rhabdoid Tumor	Anemia, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the liver, Renal neoplasm, L...	ORPHA:69077
Overlap Myositis	Leukopenia, Abnormal pulmonary interstitial morphology, Abnormal circulating lipid concentration,...	ORPHA:206572
Alpha-1-Antitrypsin Deficiency	Cirrhosis, Reduced serum alpha-1-antitrypsin, Bronchiectasis, Elevated hepatic transaminase, Hepa...	OMIM:613490
Frasier Syndrome	Gonadoblastoma, Decreased serum estradiol, Ambiguous genitalia, male, Hypertension, Increased cir...	ORPHA:347
Prolactinoma	Impotence, Anterior hypopituitarism, Decreased female libido, Secondary growth hormone deficiency...	ORPHA:2965
Hydrocephalus-Obesity-Hypogonadism Syndrome	Short stature, Azoospermia, Hypergonadotropic hypogonadism, Obesity, Abnormality of the hypothala...	ORPHA:2183
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 3	Pulmonary fibrosis, Usual interstitial pneumonia	OMIM:616373
3-Methylglutaconic Aciduria Type 4	Decreased liver function, Iris hypopigmentation, Thrombocytopenia, Cataract	ORPHA:67048
Maternal Uniparental Disomy Of Chromosome 6	Increased serum testosterone level, Hydrocele testis, Congenital adrenal hyperplasia, Intrauterin...	ORPHA:96181
Gamma-Heavy Chain Disease	Neoplasm of the tongue, Anemia, Rheumatoid arthritis, Skin rash, Autoimmune thrombocytopenia, Aut...	ORPHA:100026
Osteopetrosis, Autosomal Recessive 8	Anemia, Unilateral microphthalmos, Visual loss, Hepatomegaly, Thrombocytopenia, Splenomegaly	OMIM:615085
Autoimmune Polyendocrinopathy Type 4	Thymoma, Leukopenia, Abnormal pulmonary interstitial morphology, Biliary cirrhosis, Non-caseating...	ORPHA:227990
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Hypoplasia of the thymus, Decreased proportion of CD4-positive helper T cells, Decreased proporti...	OMIM:617241
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, T lymphocytopenia, Recurrent lower respiratory tract infections, Increased circulat...	ORPHA:169154
Premature Ovarian Failure 17	Decreased serum estradiol, Premature ovarian insufficiency, Elevated circulating luteinizing horm...	OMIM:619146
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Elevated circula...	OMIM:600081
Rapidly Involuting Congenital Hemangioma	Tufted angioma, Perineal hemangioma, Midfrontal capillary hemangioma, Hemangioma, Hepatic hemangi...	ORPHA:141184
Autoimmune Polyendocrinopathy Type 3	Thymoma, Leukopenia, Abnormal pulmonary interstitial morphology, Biliary cirrhosis, Non-caseating...	ORPHA:227982
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 4	Honeycomb lung, Pulmonary fibrosis	OMIM:616371
Immunodeficiency 46	Conjunctivitis, Anemia, Chronic oral candidiasis, Decreased circulating antibody level, Recurrent...	OMIM:616740
Intermediate Osteopetrosis	Increased susceptibility to fractures, Anemia, Osteomyelitis, Recurrent fractures, Generalized os...	ORPHA:210110
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Decreased CD4:CD8 ratio, T lymphocytopenia, Hemolytic anemia, B lymphocytopenia, Decreased propor...	OMIM:606367
Premature Ovarian Failure 16	Premature ovarian insufficiency, Elevated circulating follicle stimulating hormone level, Reduced...	OMIM:618723
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive	Anemia, Ulcerative colitis, Elevated circulating C-reactive protein concentration, Leukocytosis	OMIM:619398
Bacterial Toxic-Shock Syndrome	Septic arthritis, Fasciitis, Elevated circulating creatine kinase concentration, Myositis, Glomer...	ORPHA:36234
Agammaglobulinemia, X-Linked	Complete or near-complete absence of specific antibody response to Haemophilus influenzae type b ...	OMIM:300755
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia, Rhizomelia	OMIM:166990
Ataxia-Pancytopenia Syndrome	Acute myelomonocytic leukemia, Anemia, Pancytopenia, Thrombocytopenia, Neutropenia, Hypoplastic a...	OMIM:159550
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Decreased circulating antibody level, Lymphopenia, ...	ORPHA:169079
Hemoglobin D Disease	Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he...	ORPHA:90039
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Decreased fertility, Testicular atrophy	OMIM:313200
Neonatal Lupus Erythematosus	Malar rash, Anemia, Hepatic failure, Abnormality of the liver, Neutropenia, Hemolytic anemia, Mac...	ORPHA:398124
Immunodeficiency 69	Anemia, Skin rash, Pancytopenia, Hepatosplenomegaly, Increased circulating ferritin concentration...	OMIM:618963
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Decreased testicular size, Small pituitary gland, Cryptorchidism, Primary amenorrhea, Micropenis	OMIM:614880
Fusariosis	Brain abscess, Bronchiectasis, Fasciitis, Pleural effusion, Myositis, Hematological neoplasm, Pan...	ORPHA:228119
Shwachman-Diamond Syndrome	Acute myeloid leukemia, Hypoamylasemia, Myelodysplasia, Impaired neutrophil chemotaxis, Elevated ...	ORPHA:811
Systemic Mastocytosis With Associated Hematologic Neoplasm	Acute myeloid leukemia, Chronic myelomonocytic leukemia, Myelodysplasia, Eosinophilia, Myeloproli...	ORPHA:98849
Schnitzler Syndrome	Lymphoma, Anemia, Arthritis, Skin rash, Lymphadenopathy, Leukocytosis, Increased circulating IgM ...	ORPHA:37748
Diffuse Neonatal Hemangiomatosis	Anemia, Visceral angiomatosis, Thrombocytopenia, Hemangiomatosis, Hypercalcemia, Hepatomegaly, As...	ORPHA:2123
Hereditary Mucoepithelial Dysplasia	Recurrent respiratory infections, Cataract, Pulmonary fibrosis, Corneal dystrophy, Photophobia	ORPHA:1839
Fryns Microphthalmia Syndrome	Neural tube defect	OMIM:600776
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Jaundice, Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Cholestatic liver di...	OMIM:613404
Malaria	Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Fetal Parvovirus Syndrome	Anemia, Thrombocytopenia, Ascites, Intrauterine growth retardation, Abnormality of vision	ORPHA:295
Premature Ovarian Failure 14	Elevated circulating follicle stimulating hormone level, Elevated circulating luteinizing hormone...	OMIM:618014
Hemophagocytic Lymphohistiocytosis, Familial, 1	Increased total bilirubin, Leukopenia, Anemia, Increased VLDL cholesterol concentration, Infectio...	OMIM:267700
Proteasome-Associated Autoinflammatory Syndrome 3	Conjunctivitis, Anemia, Increased circulating antibody level, Skin rash, Arthritis, Elevated hepa...	OMIM:617591
Hemophagocytic Lymphohistiocytosis, Familial, 3	Anemia, Reduced natural killer cell activity, Hepatosplenomegaly, Hemophagocytosis, Granulocytope...	OMIM:608898
Pontocerebellar Hypoplasia, Type 15	Chronic neutropenia, Thrombocytopenia, Anemia	OMIM:619302
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Anemia, Myelodysplasia, Pancytopenia, Bone marrow hypocellularity, Increa...	OMIM:619041
Cog4-Cdg	Cirrhosis, Elevated hepatic transaminase, Hepatosplenomegaly, Elevated circulating alkaline phosp...	ORPHA:263501
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Anemia, Blindness, Short stature, Bone marrow hypocellularity, Thrombocytopenia, Pulmonary fibros...	OMIM:612199
Sitosterolemia 1	Stomatocytosis, Reduced haptoglobin level, Anemia, Hypercholesterolemia, Corneal arcus, Arthritis...	OMIM:210250
Noonan Syndrome 12	Amblyopia, Decreased response to growth hormone stimulation test, Glabellar hemangioma, Lymphopen...	OMIM:618624
Combined Immunodeficiency Due To Zap70 Deficiency	Abnormal lymph node morphology, Lymphadenitis, Lymphoma, Recurrent bacterial skin infections, Chr...	ORPHA:911
Multiple Epiphyseal Dysplasia, Lowry Type	Knee flexion contracture, Genu valgum, Rhizomelia, Micrognathia, Fragmented epiphyses, Epiphyseal...	ORPHA:166016
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Elevated hepatic transaminase, Generalized lymphadenopathy, Pleur...	ORPHA:50918
Peripheral Cone Dystrophy	Cone/cone-rod dystrophy, Peripheral retinal degeneration, Optic atrophy, Optic disc pallor	OMIM:609021
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Primary Sjögren Syndrome	Biliary cirrhosis, Chronic active hepatitis, Keratoconjunctivitis sicca, Myositis, Glomerulonephr...	ORPHA:289390
Hypophosphatemic Rickets, Autosomal Recessive, 1	Increased bone mineral density, Hypophosphatemia, Rickets, Hypophosphatemic rickets, Craniosynost...	OMIM:241520
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Increased total bilirubin, Hepatic failure, Jaundice, Elevated hepatic transaminase, Cholestasis,...	OMIM:618528
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Anemia, Abnormal pulmonary interstitial morphology, Hepatic fibrosis, Bacterial endocarditis, Pan...	ORPHA:2072
Akt2-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:79085
Wagner Vitreoretinopathy	Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy...	OMIM:143200
Retinal Dystrophy With Or Without Extraocular Anomalies	Pulmonary fibrosis, Goiter, Reduced visual acuity	OMIM:617175
Chédiak-Higashi Syndrome	Iris hypopigmentation, Elevated hepatic transaminase, Hepatosplenomegaly, Pleural effusion, Hypon...	ORPHA:167
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Rhizomelia, Short ribs, Hypoplasia of the radius, Short femur, Sandal gap, Short hum...	OMIM:607143
Birdshot Chorioretinopathy	Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular...	ORPHA:179
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Anemia, Splenomegaly, Hepatomegaly, Persistence of hemoglobin F	ORPHA:46532
Atypical Hemolytic Uremic Syndrome	Abnormal lactate dehydrogenase level, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Congenital Isolated Acth Deficiency	Hepatitis, Prolonged neonatal jaundice, Hyperkalemia, Hyponatremia	ORPHA:199296
Steinert Myotonic Dystrophy	Decreased fertility, Hyperinsulinemia, Aggressive behavior, Decreased response to growth hormone ...	ORPHA:273
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Decreased response to growth hormone stimulation test, Intrauterine growth retardation, Hypospadi...	OMIM:614732
Congenital Disorder Of Glycosylation, Type It	Elevated circulating alanine aminotransferase concentration, Hepatitis, Elevated hepatic transami...	OMIM:614921
Congenital Disorder Of Glycosylation, Type Iil	Cirrhosis, Elevated hepatic transaminase, Pancytopenia, Elevated circulating creatine kinase conc...	OMIM:614576
Immunodeficiency, Common Variable, 2	Lymphoma, Conjunctivitis, Bronchiectasis, Recurrent bronchitis, Recurrent sinusitis, Recurrent ot...	OMIM:240500
Gray Platelet Syndrome	Abnormality of thrombocytes, Thrombocytopenia, Splenomegaly, Myelodysplasia	ORPHA:721
Lead Poisoning	Impaired social interactions, Small for gestational age, Decreased female libido, Infertility, De...	ORPHA:330015
Reticuloendotheliosis, X-Linked	Jaundice, Anemia, Lymphadenopathy, Hepatosplenomegaly	OMIM:312500
Lymphoid Interstitial Pneumonia	Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Rheumatoid arthr...	ORPHA:79128
Short Rib-Polydactyly Syndrome	Short tibia, Polydactyly, Abnormal pelvis bone ossification, Limb undergrowth, Short ribs, Acetab...	ORPHA:1505
46,Xy Sex Reversal 4	Sex reversal, Hypoplastic labia majora, Agonadism, Hypergonadotropic hypogonadism, Gonadal dysgen...	OMIM:154230
Leber Congenital Amaurosis 19	Retinal degeneration, Optic disc pallor, Attenuation of retinal blood vessels	OMIM:618513
Hemophagocytic Syndrome Associated With An Infection	Abnormal natural killer cell count, Abnormal T cell subset distribution, Anemia, Hyperproteinemia...	ORPHA:158048
Pituitary Hormone Deficiency, Combined, 6	Decreased circulating follicle stimulating hormone concentration, Decreased circulating ACTH leve...	OMIM:613986
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Anemia, Pancreatitis, Hyperammonemia, Hepatomegaly, Thrombocytopenia, Neutropenia, Splenomegaly	ORPHA:79312
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Anemia, Hyperammonemia, Growth delay, Hepatomegaly, Thrombocytopenia, Neutropenia, Pancreatitis	ORPHA:289916
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Decreased liver function, Thrombocytopenia, Sideroblastic anemia, Intrauterine growth retardation	OMIM:617021
Chediak-Higashi Syndrome	Leukopenia, Anemia, Recurrent bacterial skin infections, Periodontitis, Ocular albinism, Reduced ...	OMIM:214500
Agammaglobulinemia 8B, Autosomal Recessive	Anemia, Decreased circulating total IgM, B lymphocytopenia, Decreased proportion of CD8-positive,...	OMIM:619824
Forsythe-Wakeling Syndrome	Thrombocytopenia, Growth delay, Short stature	OMIM:613606
Relapsing Fever	Increased total bilirubin, Leukopenia, Anemia, Jaundice, Neutrophilia, Elevated hepatic transamin...	ORPHA:91547
Neutropenia-Monocytopenia-Deafness Syndrome	Abnormality of neutrophils, Abnormal macrophage morphology	ORPHA:2690
Cystic Hamartoma Of Lung And Kidney	Pulmonary fibrosis, Recurrent respiratory infections	ORPHA:2111
Pituitary Deficiency Due To Empty Sella Turcica Syndrome	Increased circulating prolactin concentration, Precocious puberty, Decreased response to growth h...	ORPHA:91354
Congenital Bile Acid Synthesis Defect Type 3	Elevated circulating alanine aminotransferase concentration, Hepatic failure, Cirrhosis, Jaundice...	ORPHA:79302
X-Linked Acrogigantism	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Hype...	ORPHA:300373
Portal Hypertension, Noncirrhotic, 2	Nodular regenerative hyperplasia of liver, Hepatocellular carcinoma, Elevated hepatic transaminas...	OMIM:619463
Heme Oxygenase 1 Deficiency	Asplenia, Elevated circulating alanine aminotransferase concentration, Hemolytic anemia, Increase...	OMIM:614034
Immunodeficiency 47	Elevated hepatic transaminase, Hepatic steatosis, Hepatomegaly, Hypercholesterolemia, Thrombocyto...	OMIM:300972
Methemoglobinemia And Ambiguous Genitalia	Scrotal hypospadias, Ambiguous genitalia, Decreased circulating dehydroepiandrosterone-sulfate co...	OMIM:250790
Cinca Syndrome	Abnormality of thrombocytes, Anemia, Blindness, Abnormal granulocyte morphology, Inflammatory abn...	ORPHA:1451
Specific Granule Deficiency 2	Anemia, Myelodysplasia, Absent neutrophil specific granules, Recurrent otitis media, Recurrent pn...	OMIM:617475
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Synostosis of carpal bones, Ulnar deviation of finger, Hypoplasia of the ulna, Abnormal morpholog...	ORPHA:2634
Immunodeficiency 13	Decreased CD4:CD8 ratio, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Recurrent sinusiti...	OMIM:615518
Silver-Russell Syndrome Due To A Point Mutation	Hypothyroidism, Abnormality of the scrotum, Bifid scrotum, Small for gestational age, Microphallu...	ORPHA:397590
Lipodystrophy, Familial Partial, Type 3	Primary amenorrhea, Hyperinsulinemia, Type II diabetes mellitus, Maternal diabetes, Hypertension,...	OMIM:604367
Gaucher Disease, Type Iii	Short stature, Pancytopenia, Decreased beta-glucocerebrosidase level, Hepatomegaly, Thrombocytope...	OMIM:231000
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Intrahepatic biliary atresia, Jaundice, Elevated hepatic transaminase, Elevated gamma-glutamyltra...	OMIM:208085
Pigmented Nodular Adrenocortical Disease, Primary, 1	Increased serum testosterone level, Increased circulating cortisol level, Decreased circulating d...	OMIM:610489
Bile Acid Synthesis Defect, Congenital, 2	Hepatic failure, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Intrahepatic choles...	OMIM:235555
Immunodeficiency 98 With Autoinflammation, X-Linked	Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Recurrent otitis medi...	OMIM:301078
Cholestasis, Progressive Familial Intrahepatic, 3	Cirrhosis, Jaundice, Elevated hepatic transaminase, Portal inflammation, Portal fibrosis, Intrahe...	OMIM:602347
Sim1-Related Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Small pituitary gland, Primary amenorrhea, Abdominal ...	ORPHA:398079
Bare Lymphocyte Syndrome, Type Ii	Panhypogammaglobulinemia, Neutropenia, Biliary tract abnormality, Cholangitis, Viral hepatitis, C...	OMIM:209920
Spermatogenic Failure 6	Globozoospermia, Male infertility, Decreased acrosin in sperm head	OMIM:102530
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ...	ORPHA:280679
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hyperammonemia, Hepatomegaly, Hyperornithinemia, Decreased liver function, Acute hepatitis	OMIM:238970
Melioidosis	Septic arthritis, Brain abscess, Prostatitis, Hepatitis, Liver abscess, Splenic abscess, Foot ost...	ORPHA:31202
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hepatocellular carcinoma, Hepatic steatosis, H...	OMIM:277900
Laurin-Sandrow Syndrome	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Preaxial hand polydactyly, Limb duplication...	ORPHA:2378
Retinitis Pigmentosa 30	Rod-cone dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Attenuation of retina...	OMIM:607921
Ovarian Dysgenesis 8	Primary amenorrhea, Elevated circulating follicle stimulating hormone level, Hypoplastic labia ma...	OMIM:618187
Transcobalamin Deficiency	Decreased circulating total IgM, Decreased circulating antibody level, Lymphopenia, Pancytopenia,...	ORPHA:859
Scedosporiosis	Bronchitis, Septic arthritis, Endocarditis, Osteomyelitis, Pleural empyema, Pleuritis, Pericardit...	ORPHA:449280
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Decreased testicular size, Pulmonary fibrosis, Decreased response to growth hormone stimulation t...	ORPHA:457240
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Decreased response to growth hormone stimulation test, Short stature, Delayed puberty, Growth del...	OMIM:615866
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Anemia, Congenital hemolytic anemia, Increased serum iron, Unconjugated hyperbilirubinemia, Eleva...	ORPHA:766
Robin Sequence With Cleft Mandible And Limb Anomalies	Short tibia, Short phalanx of finger, Hip subluxation, Mesomelic leg shortening, Short 5th finger...	OMIM:268305
Citrullinemia, Type Ii, Neonatal-Onset	Hyperlysinemia, Hyperargininemia, Hypercholesterolemia, Conjugated hyperbilirubinemia, Hyperthreo...	OMIM:605814
Typhoid	Abnormal pulmonary interstitial morphology, Skin rash, Hepatomegaly, Infectious encephalitis, Spl...	ORPHA:99745
Spermatogenic Failure 13	Azoospermia	OMIM:615841
Deleted in azoospermia	Azoospermia	OMIM:400003
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Abnormal circulating calcium concentration, Thin bony cortex, Recurrent fractures, Hypophosphatem...	OMIM:241530
Florid Cemento-Osseous Dysplasia	Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abnormal bone structure, Mandi...	ORPHA:83451
Brucellosis	Sacroiliac arthritis, Septic arthritis, Hip osteoarthritis, Pleural effusion, Pericarditis, Glome...	ORPHA:1304
Fanconi Renotubular Syndrome 5	Hypophosphatemia, Lung adenocarcinoma, Emphysema, Hypophosphatemic rickets, Pulmonary fibrosis	OMIM:618913
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Pancreatic cysts, Sagittal craniosynostosis, Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, ...	OMIM:610199
Boutonneuse Fever	Leukopenia, Skin rash, Elevated hepatic transaminase, Photophobia, Lymphadenopathy, Increased cir...	ORPHA:83313
Retinitis Pigmentosa 57	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613582
Erdheim-Chester Disease	Anemia, Abnormal pulmonary interstitial morphology, Retroperitoneal fibrosis, Osteomyelitis, Skin...	ORPHA:35687
Prolidase Deficiency	Anemia, Prolonged neonatal jaundice, Crusting erythematous dermatitis, Increased circulating anti...	OMIM:170100
Immunodeficiency, Common Variable, 1	Conjunctivitis, Decreased circulating total IgM, B lymphocytopenia, Bronchiectasis, Neutropenia i...	OMIM:607594
Microcephaly-Micromelia Syndrome	Short tibia, Absent thumb, Humeroradial synostosis, Micrognathia, Missing ribs, Absent radius, Ol...	OMIM:251230
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)	Premature ovarian insufficiency, Optic atrophy, Peripheral axonal neuropathy, Amenorrhea	OMIM:619425
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Anemia, Short stature, Pancytopenia, Bone marrow hypocellularity, Thrombo...	OMIM:616435
Carney Complex	Precocious puberty, Neoplasm of the pancreas, Oligospermia, Follicular thyroid carcinoma, Ovarian...	ORPHA:1359
Liberfarb Syndrome	Retinal degeneration, Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmen...	OMIM:618889
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Macroorchidism, Abnormality of female external genitalia, Increased circulating ACTH level, Decre...	ORPHA:90790
Anemia, Sideroblastic, 2, Pyridoxine-Refractory	Anemia, Elevated transferrin saturation, Sideroblastic anemia, Decreased mean corpuscular volume,...	OMIM:205950
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Ambiguous genitalia, Adrenogenital syndrome, Hypertension, Adrenal hyperplasia, Male pseudohermap...	OMIM:202110
X-Linked Intellectual Disability, Snyder Type	Short stature, Delayed speech and language development, Absent speech, Testicular atrophy, Hyposp...	ORPHA:3063
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia	Oligospermia, Cryptorchidism	OMIM:314300
Microphthalmia With Limb Anomalies	Short tibia, Toe syndactyly, Micrognathia, Hip dislocation, Postaxial hand polydactyly, Talipes e...	ORPHA:1106
Androgen Insensitivity, Partial	Hypogonadism, Bifid scrotum, Perineal hypospadias, Infertility, Azoospermia, Male pseudohermaphro...	OMIM:312300
Immunodeficiency 92	Osteomyelitis, B lymphocytopenia, Lymphocytosis, Sclerosing cholangitis, Esophagitis, Cholangitis...	OMIM:619652
Tetragametic Chimerism	Abnormality of the scrotum, Ambiguous genitalia, Abnormal testis morphology, Bifid scrotum, Perin...	ORPHA:199310
Trimethylaminuria	Recurrent pneumonia, Anemia, Neutropenia, Splenomegaly	OMIM:602079
Cholestasis, Progressive Familial Intrahepatic, 6	Periportal fibrosis, Elevated hepatic transaminase, Intrahepatic cholestasis, Elevated circulatin...	OMIM:619484
Stuve-Wiedemann Syndrome 1	Short tibia, Short phalanx of finger, Micrognathia, Metaphyseal rarefaction, Camptodactyly, Hypop...	OMIM:601559
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2	Aplasia/hypoplasia of the uterus, Azoospermia, Short stature, Bicornuate uterus	ORPHA:2578
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal pulmonary interstitial morphology	ORPHA:401835
Transaldolase Deficiency	Anemia, Cirrhosis, Hepatosplenomegaly, Increased serum bile acid concentration, Abnormal circulat...	ORPHA:101028
Wt Limb-Blood Syndrome	Pancytopenia, Cryptorchidism, Thrombocytopenia, Leukemia, Hypoplastic anemia	OMIM:194350
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Riddle Syndrome	Bronchitis, Abnormal pulmonary interstitial morphology, Decreased circulating total IgM, Short st...	ORPHA:420741
Lymphoproliferative Syndrome 2	Lymphoma, Decreased circulating antibody level, Pancytopenia, Hepatosplenomegaly, Uveitis, Recurr...	OMIM:615122
Retinitis Pigmentosa 33	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:610359
Granulomatosis With Polyangiitis	Prostatitis, Pleuritis, Inflammatory abnormality of the eye, Granulomatosis, Skin rash, Pericardi...	ORPHA:900
Farber Disease	Anemia, Hepatic fibrosis, Nodular pattern on pulmonary HRCT, Hepatic failure, Abnormal conjunctiv...	ORPHA:333
Atelosteogenesis Type Iii	Short tibia, Patellar dislocation, Vertebral hypoplasia, Short tubular bones of the hand, Microgn...	ORPHA:56305
Trichohepatoenteric Syndrome 2	Cirrhosis, Decreased serum iron, Chronic hepatitis, Hepatomegaly, Colitis	OMIM:614602
Myh9-Related Disease	Presenile cataracts, Elevated hepatic transaminase, Nephritis, Giant platelets, Congenital thromb...	ORPHA:182050
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test, Short stature, Post...	OMIM:615925
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hemolytic anemia, Hypoplasia of the iris, Lymphadenopathy, Chronic otitis media, Neoplasm, Hepato...	ORPHA:169090
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Hyperalaninemia, Elevated circulating sebacic acid concentration, Elevated circulating suberic ac...	OMIM:615160
Anemia, Congenital Dyserythropoietic, Type Ib	Anemia, Short stature, Jaundice, Erythroid hyperplasia, Reticulocytosis, Poikilocytosis, Anisocyt...	OMIM:615631
Acute Myelomonocytic Leukemia	Leukocytosis, Anemia, Thrombocytopenia, Eosinophilia	ORPHA:517
Surfactant Metabolism Dysfunction, Pulmonary, 3	Intraalveolar phospholipid accumulation, Nodular pattern on pulmonary HRCT, Desquamative intersti...	OMIM:610921
Al Amyloidosis	Anemia, Howell-Jolly bodies, Abnormal pulmonary interstitial morphology, Abnormality of the liver...	ORPHA:85443
Osteofibrous Dysplasia, Susceptibility To	Pseudoarthrosis, Fibular hypoplasia	OMIM:607278
Hypersensitivity Pneumonitis, Familial	Hypersensitivity pneumonitis	OMIM:145300
Spermatogenic Failure 9	Globozoospermia, Male infertility	OMIM:613958
Spermatogenic Failure 67	Globozoospermia, Male infertility	OMIM:619803
Spermatogenic Failure 68	Globozoospermia, Male infertility	OMIM:619805
Spermatogenic Failure 69	Globozoospermia, Male infertility	OMIM:619826
Kallmann Syndrome	Primary amenorrhea, Decreased fertility, Anterior hypopituitarism, Decreased testicular size, Hyp...	ORPHA:478
Spermatogenic Failure 66	Globozoospermia, Male infertility	OMIM:619799
Refractory Anemia With Excess Blasts	Abnormal circulating albumin concentration, Acute myeloid leukemia, Single lineage myelodysplasia...	ORPHA:86839
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Elevated bronchoalveolar lavage fluid neutrophil proportion, Gonadotropin deficiency, Decreased r...	OMIM:610978
Wolcott-Rallison Syndrome	Abnormality of the liver, Short stature, Exocrine pancreatic insufficiency, Lymphocytosis, Hyperb...	ORPHA:1667
Slc35A2-Cdg	Short tibia, Camptodactyly of finger, Hip subluxation, Coxa valga, Abnormal long bone morphology,...	ORPHA:356961
Reticular Dysgenesis	Leukopenia, Anemia, Decreased circulating antibody level, Aplasia/Hypoplasia of the thymus, Skin ...	ORPHA:33355
Osteopetrosis, Autosomal Recessive 4	Anemia, Reticulocytosis, Growth delay, Hepatomegaly, Visual impairment, Thrombocytopenia, Splenom...	OMIM:611490
Propionic Acidemia	Anemia, Hyperglycinemia, Short stature, Eczema, Pancytopenia, Hyperammonemia, Hepatomegaly, Propi...	OMIM:606054
Vitamin B12-Unresponsive Methylmalonic Acidemia	Leukopenia, Anemia, Hyperammonemia, Macrocytic anemia, Hepatomegaly, Thrombocytopenia, Pancreatitis	ORPHA:27
Congenital Disorder Of Glycosylation, Type Ih	Anemia, Ascites, Cholestasis, Hepatomegaly, Cryptorchidism, Decreased liver function, Elevated ci...	OMIM:608104
Systemic Lupus Erythematosus 17	Leukopenia, Malar rash, Myelitis, Lymphopenia, Autoimmune thrombocytopenia, Optic neuritis, Throm...	OMIM:301080
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent aphthous stomatitis, Chronic oral candidiasis, B lymphocytopenia, Bronchiectasis, Recur...	OMIM:150550
Orofaciodigital Syndrome Ix	Short tibia, Hand polydactyly, Camptodactyly, Toe syndactyly	OMIM:258865
Dominant Beta-Thalassemia	Hepatic fibrosis, Cirrhosis, Abnormality of iron homeostasis, Splenomegaly, Hypersplenism, Jaundi...	ORPHA:231226
Isolated Sedoheptulokinase Deficiency	Anemia, Flexion contracture, Hepatitis, Hypochromic microcytic anemia, Cholestasis, Cholestatic l...	ORPHA:440713
Ovarian Hyperstimulation Syndrome	Hemorrhagic ovarian cyst, Increased serum testosterone level, Enlarged polycystic ovaries, Increa...	ORPHA:64739
Portal Hypertension, Noncirrhotic, 1	Portal hypertension, Elevated hepatic transaminase, Splenomegaly, Hepatomegaly	OMIM:617068
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Short stature, Elevated hepatic transaminase, Elevated circulating creatine kinase co...	OMIM:301056
Hypohidrosis-Enamel Hypoplasia-Palmoplantar Keratoderma-Intellectual Disability Syndrome	Hepatitis	ORPHA:363523
Braddock Syndrome	Pulmonary fibrosis, Intrauterine growth retardation, Short stature	ORPHA:52047
Metaphyseal Acroscyphodysplasia	Short phalanx of finger, Short toe, Genu varum, Metaphyseal cupping, Coxa valga, Short metacarpal...	OMIM:250215
Refractory Celiac Disease	Elevated alkaline phosphatase of bone origin, Inflammatory abnormality of the skin, Normocytic an...	ORPHA:398063
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Decreased proportion of marginal zone B cells, Coombs-positive hemolytic anemia, Thyroiditis, Aut...	OMIM:619375
Wiskott-Aldrich Syndrome 2	Reduced natural killer cell activity, Defective T cell proliferation, Decreased proportion of CD8...	OMIM:614493
Cyclic Neutropenia	Respiratory tract infection, Recurrent skin infections, Enterocolitis, Perianal abscess, Periodon...	ORPHA:2686
X-Linked Sideroblastic Anemia	Abnormality of iron homeostasis, Anemia, Elevated hepatic transaminase, Splenomegaly	ORPHA:75563
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Abnormal lymph node morphology, Anemia, Brain abscess, Abnormality of the pancreas, Abnormal test...	ORPHA:54251
Folate Malabsorption, Hereditary	Leukopenia, Thrombocytopenia, Neutropenia, Folate-responsive megaloblastic anemia	OMIM:229050
Leukoencephalopathy With Dystonia And Motor Neuropathy	Abnormality of thalamus morphology, Azoospermia, Hypergonadotropic hypogonadism	OMIM:613724
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absent scrotum, Aggressive behavior, Absence of labia majora, Hypoplastic labia minora, Decreased...	ORPHA:495875
Hemochromatosis, Type 4	Anemia, Cirrhosis, Elevated transferrin saturation, Hepatic steatosis, Cataract, Increased circul...	OMIM:606069
Omenn Syndrome	Anemia, Hypoplasia of the thymus, Erythroderma, B lymphocytopenia, Severe B lymphocytopenia, Lymp...	OMIM:603554
Chronic Visceral Acid Sphingomyelinase Deficiency	Cholelithiasis, Abnormal pulmonary interstitial morphology, Abnormal circulating lipid concentrat...	ORPHA:77293
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated hepatic transaminase, Elevated circulating creatine kinase concentration, Hyperammonemia...	OMIM:600649
Legionnaires Disease	Endocarditis, Hepatitis, Jaundice, Pancreatitis, Lymphopenia, Pericarditis, Hyponatremia, Infecti...	ORPHA:549
Limited Cutaneous Systemic Sclerosis	Pulmonary fibrosis	ORPHA:220402
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Ambiguous genitalia, Absent scrotum, Elevated circulating 17-hydroxyprogesterone concentration, S...	OMIM:201810
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Enterocolitis, T lymphocytopenia, Bronchiectasis, Inflammatory abnormality of the skin, Hepatitis...	ORPHA:391487
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, B lymphocytopenia, Skin rash, Neutrophilic infiltration of the skin, Lym...	OMIM:618048
Hemochromatosis, Type 1	Telangiectasia, Impotence, Azoospermia, Congestive heart failure, Testicular atrophy, Diabetes me...	OMIM:235200
Osteopetrosis, Autosomal Recessive 1	Anemia, Osteomyelitis, Blindness, Hypocalcemia, Pancytopenia, Elevated circulating alkaline phosp...	OMIM:259700
Schimke Immuno-Osseous Dysplasia	Anemia, Short stature, Minimal change glomerulonephritis, Disproportionate short-trunk short stat...	ORPHA:1830
Common Variable Immunodeficiency	Lymphoma, Abnormality of the liver, Hemolytic anemia, Bronchiectasis, Decreased circulating antib...	ORPHA:1572
Robinow Syndrome	Short stature, Small for gestational age, External genital hypoplasia, Webbed penis, Hypoplastic ...	ORPHA:97360
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Decreased response to growth hormone stimulation test, Short stature, Decreased testicular size, ...	OMIM:300845
Angioosteohypotrophic Syndrome	Abnormal trabecular bone morphology, Thin bony cortex	ORPHA:75508
Caroli Syndrome	Conjunctival icterus, Cholangiocarcinoma, Elevated hepatic transaminase, Hepatomegaly, Abnormalit...	ORPHA:480520
Immunodeficiency 54	Reduced natural killer cell count, Adrenocorticotropic hormone excess, Short stature, Lymphadenop...	OMIM:609981
Gallbladder Disease 1	Hepatic fibrosis, Cholesterol gallstones, Jaundice, Pancreatitis, Elevated hepatic transaminase, ...	OMIM:600803
Thrombocytopenia 7	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619130
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Hepatic failure, Periportal fibrosis, Hepatocellular necrosis, Depletion of mitochondrial DNA in ...	OMIM:251880
Glycogen Storage Disease Ixa1	Hyperuricemia, Elevated hepatic transaminase, Hepatomegaly, Hypercholesterolemia, Hypertriglyceri...	OMIM:306000
Pituitary Gigantism	Increased circulating prolactin concentration, Type II diabetes mellitus, Left ventricular hypert...	ORPHA:99725
Faciocardiomelic Dysplasia, Lethal	Short 5th finger, Hypoplasia of the radius, Micrognathia, Hypoplasia of the ulna, Talipes, Short ...	OMIM:227270
Retinitis Pigmentosa 62	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:614181
Citrullinemia, Type Ii, Adult-Onset	Elevated circulating alanine aminotransferase concentration, Hepatic fibrosis, Ballooning hepatoc...	OMIM:603471
Idiopathic Chronic Eosinophilic Pneumonia	Hypereosinophilia, Pleural effusion, Elevated circulating C-reactive protein concentration, Leuko...	ORPHA:2902
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 5	Pulmonary fibrosis, Bone marrow hypocellularity	OMIM:618674
Myotonic Dystrophy 2	Type II diabetes mellitus, Elevated circulating follicle stimulating hormone level, Oligospermia,...	OMIM:602668
Hermansky-Pudlak Syndrome 10	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Ocular albinism, He...	OMIM:617050
Renal And Mullerian Duct Hypoplasia	Aplasia of the uterus, Severe postnatal growth retardation, Hydrocele testis, Anteriorly displace...	OMIM:266810
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Precocious puberty, Short stature, Small for gestational age, Delayed speech and language develop...	ORPHA:96184
Osteopetrosis, Autosomal Recessive 5	Anemia, Hepatic failure, Severely reduced visual acuity, Mydriasis, Short stature, Hyperbilirubin...	OMIM:259720
Osteopetrosis, Autosomal Recessive 7	Anemia, Decreased circulating total IgM, Abnormal trabecular bone morphology, Recurrent pneumonia...	OMIM:612301
Immunodeficiency 82 With Systemic Inflammation	T lymphocytopenia, Bronchiectasis, Gastritis, Colitis, Recurrent skin infections, Pneumonia, Hype...	OMIM:619381
Glutamate Formiminotransferase Deficiency	Growth delay, Megaloblastic anemia, Hypersegmentation of neutrophil nuclei, Positive ferric chlor...	OMIM:229100
Lig4 Syndrome	Hypothyroidism, Telangiectasia, Cryptorchidism, Micropenis, Amenorrhea	OMIM:606593
Immunodeficiency 87 And Autoimmunity	Necrotizing enterocolitis, Decreased proportion of CD4-positive T cells, Pleural effusion, Hepati...	OMIM:619573
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Rhizomelic arm shortening, Leukopenia, Anemia, Reticulocytopenia, B lymphocytopenia, Myelodysplas...	ORPHA:508542
Alpha-Thalassemia	Anemia, Hemolytic anemia, Myelodysplasia, Hypersplenism, Jaundice, Cholelithiasis, Abnormal hemog...	ORPHA:846
Retinitis Pigmentosa 11	Rod-cone dystrophy, Macular edema, Macular degeneration, Macular atrophy, Bone spicule pigmentati...	OMIM:600138
Parenteral Nutrition-Associated Cholestasis	Hepatic fibrosis, Biliary hyperplasia, Cirrhosis, Hepatic failure, Splenomegaly, Jaundice, Elevat...	ORPHA:567983
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Anemia, Increased circulating antibody level, Acute monocytic leukemia, Thrombocytosis, Eosinophi...	OMIM:202700
Retinitis Pigmentosa 32	Retinal degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:609913
Pseudohypoparathyroidism With Albright Hereditary Osteodystrophy	Irregular menstruation, Precocious puberty, Hyperthyroidism, Abnormal testis morphology, Abnormal...	ORPHA:457059
Cidec-Related Familial Partial Lipodystrophy	Decreased serum leptin, Polycystic ovaries, Decreased adiponectin level, Insulin-resistant diabet...	ORPHA:435651
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Elevated circula...	OMIM:264700
Congenital Factor Vii Deficiency	Intracranial hemorrhage, Epistaxis, Gastrointestinal hemorrhage, Menorrhagia, Ovarian cyst, Joint...	ORPHA:327
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Ambiguous genitalia, Vesicovaginal fistula, Adrenal insufficiency, Decreased circulating renin le...	OMIM:201750
Systemic Lupus Erythematosus	Leukopenia, Malar rash, Hemolytic anemia, Pleuritis, Arthritis, Nephritis, Pericarditis, Lupus ne...	OMIM:152700
Alstrom Syndrome	Tubulointerstitial nephritis, Hyperuricemia, Chronic active hepatitis, Hyperostosis frontalis int...	OMIM:203800
Spondyloepimetaphyseal Dysplasia, Missouri Type	Genu varum, Metaphyseal cupping, Coxa vara, Rhizomelia, Radial bowing, Flared iliac wing, Ulnar b...	OMIM:602111
Bent Bone Dysplasia Syndrome 2	Short tibia, Short sternum, Hypoplastic iliac wing, Hypoplastic acetabulae, Short 1st metacarpal,...	OMIM:620076
Cone-Rod Dystrophy 16	Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re...	OMIM:614500
Autoimmune Lymphoproliferative Syndrome	Chronic noninfectious lymphadenopathy, Elevated proportion of CD4-negative, CD8-negative, alpha-b...	OMIM:601859
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Cirrhosis, Hepatitis, Hypersplenism, Thyroiditis, Neutropenia in presence of anti-neutropil antib...	ORPHA:228426
Rabson-Mendenhall Syndrome	Hypothyroidism, Precocious puberty, Increased serum testosterone level, Short stature, Diabetic k...	ORPHA:769
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Bronchiectasis, Decreased circulating antibody level, Recurrent sinopulmonary...	OMIM:616576
Acquired Purpura Fulminans	Hepatic failure, Skin rash, Neoplasm, Elevated circulating C-reactive protein concentration, Thro...	ORPHA:49566
Anemia, Sideroblastic, 5	Anemia, Reduced hematocrit, Refractory anemia with ringed sideroblasts, Hypochromic microcytic an...	OMIM:619523
Myoectodermal Gonadal Dysgenesis Syndrome	Short stature, Small for gestational age, Hypoplastic labia majora, Clitoral hypoplasia, Elevated...	OMIM:618419
Mucopolysaccharidosis-Plus Syndrome	Leukopenia, Anemia, Recurrent respiratory infections, Enlarged kidney, Recurrent bronchopulmonary...	OMIM:617303
Transaldolase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Pancytopenia, Hepatosplenomegaly, Micronodular cirrhosis, He...	OMIM:606003
Thrombotic Thrombocytopenic Purpura	Microangiopathic hemolytic anemia, Decreased serum creatinine, Reticulocytosis, Abnormal lactate ...	ORPHA:54057
Mu-Heavy Chain Disease	Anemia, Increased circulating antibody level, Abnormal B cell count, Lymphadenopathy, Hepatomegal...	ORPHA:100024
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Thrombocytopenia, Myelodysplasia, Increased mean corpuscular volume	OMIM:252270
Optic Atrophy 12	Optic disc pallor, Optic atrophy	OMIM:618977
Immunodeficiency 36 With Lymphoproliferation	Chronic lymphatic leukemia, Increased proportion of transitional B cells, B lymphocytopenia, Bron...	OMIM:616005
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased circulating follicle stimulating hormone concentration, Anterior pituitary hypoplasia, ...	ORPHA:226307
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Thyroiditis, Keratoconjunctivitis sicca, Laryngeal papilloma, Punctate keratit...	OMIM:617388
Low Phospholipid-Associated Cholelithiasis	Biliary cirrhosis, Liver abscess, Neoplasm of the liver, Sclerosing cholangitis, Hepatocellular c...	ORPHA:69663
Surfactant Metabolism Dysfunction, Pulmonary, 2	Intralobular septal thickening, Intraalveolar phospholipid accumulation, Spontaneous pneumothorax...	OMIM:610913
Acquired Partial Lipodystrophy	Hepatic steatosis, Lymphocytosis	ORPHA:79087
Amegakaryocytic Thrombocytopenia, Congenital	Amegakaryocytic thrombocytopenia, Thrombocytopenia, Pancytopenia	OMIM:604498
Grant Syndrome	Micrognathia, Down-sloping shoulders, Tibial bowing	OMIM:138930
Microcephaly 20, Primary, Autosomal Recessive	Vaginal atresia, Intrauterine growth retardation, Short stature, Hypoplasia of the uterus	OMIM:617914
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Bronchiectasis, Viral hepatitis, Psoriasiform dermatitis, Pneumonia, Atopic dermatitis, Decreased...	ORPHA:183675
48,Xxxy Syndrome	Hypogonadism, Abnormal aggressive, impulsive or violent behavior, Decreased testicular size, Type...	ORPHA:96263
Retinitis Pigmentosa 81	Retinal pigment epithelial atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, A...	OMIM:617871
Tsh-Secreting Pituitary Adenoma	Enlarged pituitary gland, Impotence, Decreased female libido, Euthyroid hyperthyroxinemia, Increa...	ORPHA:91347
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Abnormal pulmonary interstitial morphology, Pulmonary hemorrhage, Arthritis, Hemosiderin-laden ma...	OMIM:616414
Osteosclerosis With Ichthyosis And Fractures	Tibial bowing, Cortical thickening of long bone diaphyses, Femoral bowing	OMIM:166740
Bone Marrow Failure Syndrome 2	Leukopenia, Anemia, Thrombocytopenia, Bone marrow hypocellularity	OMIM:615715
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Decreased methionine synthase activity, Methylmalonic acidemia, Hyperhomocystinemia, Hypomethioni...	OMIM:614857
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Conjunctivitis, Septic arthritis, Panhypogammaglobulinemia, Prostatitis, Pyoderma, Enteroviral he...	OMIM:307200
Dermatomyositis	Lymphoma, Breast carcinoma, Abnormal pulmonary interstitial morphology, Myocarditis, Arthritis, L...	ORPHA:221
Chronic Myeloid Leukemia	Abnormal granulocyte morphology, Abnormal basophil morphology, Thrombocytosis, Leukocytosis, Myel...	ORPHA:521
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Short stature, Myelodysplasia, Elevated hepatic transaminase, Pan...	OMIM:260400
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Patellar hypoplasia, Preaxial foot polydactyly, Absent tibia, Mirror image foot polydactyly, Bila...	OMIM:119800
Hereditary Amyloidosis With Primary Renal Involvement	Primary testicular failure, Hypogonadism, Weight loss, Abnormal testis morphology, Oligospermia, ...	ORPHA:85450
Leukodystrophy, Hypomyelinating, 21	Hypogonadotropic hypogonadism, Optic atrophy, Cryptorchidism	OMIM:619310
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Impaired ADP-induced platelet aggregation, Impaired epinephrine-induced platelet aggregation, Leu...	OMIM:155100
Hypophosphatemic Rickets, X-Linked Recessive	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300554
Congenital Generalized Lipodystrophy	Precocious puberty in females, Hyperinsulinemia, Oligomenorrhea, Congestive heart failure, Hypert...	ORPHA:528
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	OMIM:618160
Diffuse Cutaneous Mastocytosis	Abnormality of the liver, Erythroderma, Elevated total serum tryptase, Lymphocytosis, Lymphadenop...	ORPHA:79456
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Premature ovarian insufficiency, Failure to thrive, Female infertility, Mitochondr...	OMIM:619518
Schimke Immunoosseous Dysplasia	Anemia, Abnormal T cell morphology, Elevated circulating thyroid-stimulating hormone concentratio...	OMIM:242900
Autosomal Recessive Hypophosphatemic Rickets	Elevated alkaline phosphatase of bone origin, Hypocalcemic tetany, Rickets of the lower limbs, Ab...	ORPHA:289176
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reticulocytosis, Hepatosplenomegaly, Hepatomegaly, Splenomegaly,...	OMIM:613673
Late-Onset Isolated Acth Deficiency	Generalized bone demineralization, Hyperuricemia, Hepatitis, Normocytic anemia, Hyperkalemia, Has...	ORPHA:199299
46,Xx Sex Reversal 1	Sex reversal, Bicornuate uterus, True hermaphroditism, Azoospermia, Hypospadias, Elevated circula...	OMIM:400045
Cerebellar Ataxia-Hypogonadism Syndrome	Decreased fertility, Optic atrophy, Hypogonadism, Supernumerary nipple, Abnormality of retinal pi...	ORPHA:1173
Hypocalcemic Vitamin D-Dependent Rickets	Elevated alkaline phosphatase of bone origin, Thin bony cortex, Increased susceptibility to fract...	ORPHA:289157
Roch-Leri Mesosomatous Lipomatosis	Multiple lipomas, Thrombocytopenia	ORPHA:529
Vitamin D-Dependent Rickets, Type 2A	Thin bony cortex, Recurrent fractures, Hypophosphatemia, Sparse bone trabeculae, Elevated circula...	OMIM:277440
Maternal Uniparental Disomy Of Chromosome 2	Hypothyroidism, Decreased response to growth hormone stimulation test, Premature ovarian insuffic...	ORPHA:96179
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Short phalanx of finger, Aplasia/hypoplasia of the femur, Micrognathia, Flared iliac wing, Toe sy...	OMIM:609945
Good Syndrome	Thymoma, Anemia, Recurrent respiratory infections, Bronchiectasis, Decreased circulating antibody...	ORPHA:169105
Sea-Blue Histiocytosis	Sea-blue histiocytosis, Hepatomegaly, Mediastinal lymphadenopathy, Thrombocytopenia, Splenomegaly...	ORPHA:158029
Acute Monoblastic/Monocytic Leukemia	Anemia, Lymphocytosis, Cervical lymphadenopathy, Acute monocytic leukemia, Leukocytosis, Hypochro...	ORPHA:514
Boucher-Neuhauser Syndrome	Hypogonadotropic hypogonadism, Decreased circulating gonadotropin concentration	OMIM:215470
Cinca Syndrome	Anemia, Skin rash, Arthritis, Uveitis, Hepatosplenomegaly, Lymphadenopathy, Elevated circulating ...	OMIM:607115
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hepatitis, Hypersplenism, Camptodactyly, Pancytopenia, Hashimoto thyroiditis, Decreased circulati...	OMIM:613385
Zika Virus Disease	Conjunctivitis, Myelitis, Infectious encephalitis, Skin rash, Arthritis, Lens subluxation, Iris c...	ORPHA:448237
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Skin rash, Lymphopenia, Colitis, Thrombocytopenia, Anterior uveitis	OMIM:616744
Cystic Echinococcosis	Abnormal subpleural morphology, Abnormality of the testis size, Elevated hepatic transaminase, Ab...	ORPHA:400
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cone-shaped epiphysis, Postaxial polydactyly, Short ribs, Short long bone, Absent tibia, Short di...	OMIM:613091
Shox-Related Short Stature	Genu valgum, Micrognathia, Lower limb undergrowth, Ulnar radial head dislocation, Forearm undergr...	ORPHA:314795
Wolfram Syndrome, Mitochondrial Form	Megaloblastic anemia, Blindness, Sideroblastic anemia, Thrombocytopenia, Neutropenia	OMIM:598500
Pparg-Related Familial Partial Lipodystrophy	Secondary amenorrhea, Oligomenorrhea, Maternal diabetes, Hypertension, Congestive heart failure, ...	ORPHA:79083
Ebola Hemorrhagic Fever	Leukopenia, Hepatitis, Increased circulating antibody level, Lymphopenia, Acute pancreatitis, Thr...	ORPHA:319218
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Megaloblastic anemia, Jaundice, Pancytopenia, Hepatomegaly, Increased circulating lactate dehydro...	OMIM:613839
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Atrophic gastritis, Crohn's disease, Decreased circulating total IgM, Bronchiectasis, Decreased c...	OMIM:616100
Retinitis Pigmentosa 73	Rod-cone dystrophy, Peripapillary atrophy, Macular crystals, Retinal atrophy, Bone spicule pigmen...	OMIM:616544
Lipe-Related Familial Partial Lipodystrophy	Abnormal labia majora morphology, Decreased serum leptin, Polycystic ovaries, Decreased adiponect...	ORPHA:435660
Pediatric-Onset Graves Disease	Neutropenia in presence of anti-neutropil antibodies, Jaundice, Elevated hepatic transaminase, In...	ORPHA:525731
Microphthalmia, Isolated 5	Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of...	OMIM:611040
Hermansky-Pudlak Syndrome 1	Blindness, Ocular albinism, Photophobia, Inflammation of the large intestine, Colitis, Severely r...	OMIM:203300
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Eleva...	OMIM:255120
Retinitis Pigmentosa 95	Perifoveal ring of hyperautofluorescence, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:620102
Gaucher Disease Type 3	Anemia, Abnormal pulmonary interstitial morphology, Increased circulating antibody level, Pancyto...	ORPHA:77261
Late-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir...	ORPHA:556037
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Enterocolitis, Hypoplasia of the thymus, Decreased circulating antibody level, Interface hepatiti...	OMIM:243150
Bleeding Disorder, Platelet-Type, 19	Anemia, Thrombocytopenia, Macrothrombocytopenia	OMIM:616176
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome	Motor axonal neuropathy, Optic atrophy, Sensory axonal neuropathy, Decreased nerve conduction vel...	ORPHA:457205
Meckel Syndrome 12	Vaginal atresia, Intrauterine growth retardation, Hypoplasia of the uterus	OMIM:616258
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Coxa valga, Patellar dislocation, Finger syndactyly, Tibial torsion, Micrognathia, Hi...	ORPHA:3320
Shigellosis	Conjunctivitis, Hepatic failure, Myocarditis, Arthritis, Microangiopathic hemolytic anemia, Perit...	ORPHA:810
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Increased circulating interleukin 6 concentration, Ab...	ORPHA:178320
Systemic Sclerosis	Abnormal pulmonary interstitial morphology, Myocarditis, Osteomyelitis, Arthritis, Elevated circu...	ORPHA:90291
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hyperlysinemia, Abnormal circulating lipid concentration, Hypergalactosemia, Elevated hepatic tra...	ORPHA:247598
Nephrotic Syndrome, Type 7	Glomerulonephritis, Thrombocytopenia, Hemolytic anemia	OMIM:615008
Dyskeratosis Congenita	Lymphoma, Anemia, Cirrhosis, Hepatic failure, Abnormal testis morphology, Periodontitis, Short st...	ORPHA:1775
Retinitis Pigmentosa 70	Rod-cone dystrophy, Retinal degeneration, Macular degeneration, Attenuation of retinal blood vess...	OMIM:615922
Pseudo-Torch Syndrome 1	Jaundice, Opacification of the corneal stroma, Elevated hepatic transaminase, Cataract, Hepatomeg...	OMIM:251290
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Preaxial foot polydactyl...	ORPHA:1988
Pulmonary Alveolar Microlithiasis	Bronchitis, Abnormal circulating calcium concentration, Respiratory tract infection, Testicular m...	ORPHA:60025
Thanatophoric Dysplasia, Glasgow Variant	Anemia, Cataract, Hepatosplenomegaly	OMIM:273680
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Anemia, Decreased methionine synthase activity, Megaloblastic anemia, Cystathioninemia, Methylmal...	OMIM:277380
Gangliocytoma	Hyperhidrosis, Adrenocorticotropic hormone excess, Impotence, Decreased female libido, Pituitary ...	ORPHA:251937
Immunodeficiency 14B, Autosomal Recessive	Decreased circulating total IgM, B lymphocytopenia, Reduced natural killer cell activity, Neutrop...	OMIM:619281
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Leukopenia, Anemia, Hypoplasia of the thymus, Perianal abscess, Recurrent respiratory infections,...	OMIM:612541
Lysinuric Protein Intolerance	Elevated hepatic transaminase, Hepatosplenomegaly, Glomerulonephritis, Hepatomegaly, Hypercholest...	ORPHA:470
Alg8-Cdg	Anemia, Elevated hepatic transaminase, Cataract, Thrombocytopenia, Hyponatremia, Ascites, Intraut...	ORPHA:79325
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Anemia, Hepatic fibrosis, Decreased circulating total IgM, Exocrine pancreatic insufficiency, Ele...	OMIM:620005
Silver-Russell Syndrome 3	Ambiguous genitalia, Decreased body weight, Short stature, Small for gestational age, Unilateral ...	OMIM:616489
Retinitis Pigmentosa	Optic atrophy, Abnormal testis morphology, Hypogonadism, Hypoplasia of penis, Abnormality of reti...	ORPHA:791
Primary Lipodystrophy	Type II diabetes mellitus, Hypertension, Congestive heart failure, Angina pectoris, Polycystic ov...	ORPHA:90970
Retinitis Pigmentosa 50	Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal flecks, Retinal detachment, Opt...	OMIM:613194
Stormorken Syndrome	Asplenia, Anemia, Howell-Jolly bodies, Short stature, Elevated circulating creatine kinase concen...	OMIM:185070
Pelger-Huet Anomaly	Eczema, Hyposegmentation of neutrophil nuclei, Abnormality of neutrophils, Recurrent otitis media...	OMIM:169400
Early-Onset Familial Hypoaldosteronism	Decreased circulating aldosterone level, Abnormal circulating corticosterone level, Increased cir...	ORPHA:556030
Insulin-Resistance Syndrome Type B	Hyperinsulinemia, Decreased body weight, Increased serum testosterone level, Weight loss, Enlarge...	ORPHA:2298
Interstitial Cystitis	Abnormality of the menstrual cycle, Abnormal labia morphology, Dyspareunia, Abnormality of the ur...	ORPHA:37202
Irvan Syndrome	Tractional retinal detachment, Macular edema, Optic atrophy, Retinal exudate, Vitreous floaters, ...	ORPHA:209943
Retinitis Pigmentosa 63	Rod-cone dystrophy, Optic disc pallor	OMIM:614494
Cryoglobulinemic Vasculitis	Abnormality of the liver, Arthritis, Keratoconjunctivitis sicca, Viral hepatitis, Hepatomegaly, S...	ORPHA:91138
Mirage Syndrome	Leukopenia, Anemia, Aspiration pneumonia, Short stature, Myelodysplasia, Decreased testicular siz...	OMIM:617053
49,Xxxxy Syndrome	Hypogonadism, Short stature, Decreased testicular size, Type II diabetes mellitus, Infertility, S...	ORPHA:96264
Purine Nucleoside Phosphorylase Deficiency	Lymphoma, Increased circulating inosine concentration, Neutropenia in presence of anti-neutropil ...	OMIM:613179
Fanconi Anemia, Complementation Group E	Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Microph...	OMIM:600901
Drug-Induced Lupus Erythematosus	Malar rash, Anemia, Elevated circulating creatine kinase concentration, Pericarditis, Increased b...	ORPHA:231111
Primary Intestinal Lymphangiectasia	Peritoneal effusion, Anemia, Reduced proportion of CD4+ effector memory T cells, Decreased circul...	ORPHA:90362
Acute Erythroid Leukemia	Leukopenia, Anemia, Erythroid hypoplasia, Pancytopenia, Bone marrow hypocellularity, Refractory a...	ORPHA:318
Mucopolysaccharidosis Type 7	Hepatitis, Joint stiffness, Epiphyseal stippling, Splenomegaly	ORPHA:584
Craniorachischisis	Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida	ORPHA:63260
Osteopetrosis, Autosomal Recessive 2	Anemia, Osteomyelitis, Blindness, Pancytopenia, Hepatosplenomegaly, Mandibular osteomyelitis, Chr...	OMIM:259710
Immune-Mediated Necrotizing Myopathy	Abnormal pulmonary interstitial morphology, Skin rash, Elevated circulating creatine kinase conce...	ORPHA:206569
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Tubulointerstitial nephritis, Leukopenia, Hyperglycinemia, Methylmalonic acidemia, Hyperammonemia...	OMIM:251000
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Short tibia, Rhizomelia, Short ribs, Short long bone, Flat acetabular roof, Microretrognathia, Hy...	OMIM:616300
Anemia, Hypochromic Microcytic, With Iron Overload 2	Anemia, Elevated transferrin saturation, Poikilocytosis, Decreased mean corpuscular volume, Incre...	OMIM:615234
Thiamine-Responsive Megaloblastic Anemia Syndrome	Short stature, Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Visual loss, Crypt...	OMIM:249270
Polycythemia Vera	Increased red blood cell mass, Increased hematocrit, Thrombocytosis, Leukocytosis, Thrombocytopen...	OMIM:263300
Fanconi Anemia, Complementation Group V	Anemia, Short stature, Elevated circulating alpha-fetoprotein concentration, Bone marrow hypocell...	OMIM:617243
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Rhizomelia, Small for gestational age, Clitoral hypoplasia, Failure to thrive, Oligospermia, Diab...	OMIM:614813
Ovarian Fibroma	Abnormality of the ovary, Ovarian fibroma, Gonadal calcification	ORPHA:314473
Thrombocytopenia With Beta-Thalassemia, X-Linked	Splenomegaly, Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Thrombocytopen...	OMIM:314050
Cyanosis, Transient Neonatal	Anemia, Jaundice, Reticulocytosis, Hepatomegaly, Methemoglobinemia	OMIM:613977
Thiamine-Responsive Megaloblastic Anemia Syndrome	Visual loss, Thrombocytopenia, Megaloblastic anemia, Short stature	ORPHA:49827
Omenn Syndrome	Lymphoma, Anemia, Erythroderma, Thyroiditis, Lymphadenopathy, Leukocytosis, Eosinophilia, Hepatom...	ORPHA:39041
Whim Syndrome	Lymphadenitis, Papilloma, Respiratory tract infection, Verrucae, Bronchiectasis, Abnormality of n...	ORPHA:51636
Rajab Interstitial Lung Disease With Brain Calcifications 1	Abnormal pulmonary interstitial morphology, Anemia, Cirrhosis, Decreased liver function, Short st...	OMIM:613658
Immunodeficiency 21	Reduced natural killer cell count, Anemia, Myeloid leukemia, Monocytopenia, B lymphocytopenia, My...	OMIM:614172
Pearson Marrow-Pancreas Syndrome	Anemia, Hepatic failure, Reticulocytopenia, Hyperbilirubinemia, Refractory sideroblastic anemia, ...	OMIM:557000
Craniopharyngioma	Enlarged pituitary gland, Increased circulating prolactin concentration, Hypogonadism, Neoplasm o...	ORPHA:54595
Night Blindness, Congenital Stationary, Type 1G	Rod-cone dystrophy, Congenital stationary night blindness, Optic disc pallor	OMIM:616389
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy, Optic disc pallor	OMIM:613862
Fanconi Anemia, Complementation Group C	Anemia, Reticulocytopenia, Short stature, Intrauterine growth retardation, Pancytopenia, Prolonge...	OMIM:227645
Fanconi Anemia, Complementation Group A	Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Microph...	OMIM:227650
Immunodeficiency 22	Anemia, Decreased circulating total IgM, Chronic oral candidiasis, Decreased circulating IgE, Per...	OMIM:615758
Wiskott-Aldrich Syndrome	Hypoplasia of the thymus, Eczema, Neoplasm, Thrombocytopenia, Arthritis, Recurrent respiratory in...	ORPHA:906
Stuve-Wiedemann Syndrome 2	Thrombocytopenia, Eczema, Intrauterine growth retardation	OMIM:619751
Desmoplastic Small Round Cell Tumor	Anemia, Ovarian neoplasm, Neoplasm of the central nervous system, Sarcoma, Neoplasm of the pancre...	ORPHA:83469
Burkitt Lymphoma	Abnormality of the ovary, Gastrointestinal hemorrhage	ORPHA:543
3-Methylglutaconic Aciduria, Type Viib	Leukopenia, Zonular cataract, Rhizomelia, Hepatic steatosis, Recurrent pneumonia, Cataract, Growt...	OMIM:616271
Lipodystrophy, Familial Partial, Type 5	Irregular menstruation, Diabetic ketoacidosis, Hypertension, Decreased serum leptin, Decreased ad...	OMIM:615238
Primary Ciliary Dyskinesia	Double outlet right ventricle, Abnormal sperm motility, Atrial situs ambiguous, Female infertilit...	ORPHA:244
Tufted Angioma	Anemia, Hemangioma of the lip, Neoplasm of the skin, Facial hemangioma, Thrombocytopenia	ORPHA:1063
Glycogen Storage Disease Xii	Reduced haptoglobin level, Anemia, Elevated circulating alanine aminotransferase concentration, I...	OMIM:611881
Stevens-Johnson Syndrome	Conjunctivitis, Abnormal pleura morphology, Anemia, Corneal erosion, Elevated hepatic transaminas...	ORPHA:36426
Renal Cysts And Diabetes Syndrome	Pancreatic hypoplasia, Atretic vas deferens, Bicornuate uterus, Reduced sperm motility, Maturity-...	OMIM:137920
Dehydrated Hereditary Stomatocytosis	Increased total bilirubin, Increased mean corpuscular hemoglobin concentration, Intermittent jaun...	ORPHA:3202
Bleeding Disorder, Platelet-Type, 16	Anemia, Impaired platelet aggregation, Thrombocytopenia, Giant platelets, Platelet anisocytosis, ...	OMIM:187800
Sepsis In Premature Infants	Anemia, Enterocolitis, Increased circulating interleukin 6 concentration, Jaundice, Elevated circ...	ORPHA:90051
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Elevated hepatic transaminase, Recurrent sinusitis, Eczema, Hepatosplenomegaly, Bone marrow hypoc...	OMIM:615688
Gapo Syndrome	Hypogonadism, Short stature, Oligospermia, Growth delay, Dysmenorrhea, Amenorrhea	ORPHA:2067
Familial Isolated Dilated Cardiomyopathy	Elevated circulating creatine kinase concentration, Abnormality of neutrophils	ORPHA:154
Pearson Syndrome	Elevated hepatic transaminase, Reticulocytosis, Hepatic steatosis, Bone marrow hypocellularity, H...	ORPHA:699
Spastic Paraplegia, Optic Atrophy, And Dementia	Optic disc pallor, Optic atrophy	OMIM:182830
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Shoulder dislocation, Genu varum, Aplasia/Hypoplasia of the thumb, Asymmetric radial dysplasia, R...	OMIM:171480
Pediatric Systemic Lupus Erythematosus	Leukopenia, Malar rash, Discoid lupus rash, Skin rash, Microangiopathic hemolytic anemia, Arthrit...	ORPHA:93552
Megaloblastic Anemia, Folate-Responsive	Hyperbilirubinemia, Hyperhomocystinemia, Episodic hemolytic anemia, Schistocytosis, Increased cir...	OMIM:601775
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Elevated circulating alanine aminotransferase concentration, Elevated hepatic transaminase, Hepat...	OMIM:615381
Autoimmune Polyendocrine Syndrome, Type Ii	Asplenia, Cirrhosis, Keratoconjunctivitis, Hepatitis, Chronic mucocutaneous candidiasis, Iron def...	OMIM:269200
Slc35A1-Cdg	Pulmonary hemorrhage, Pneumonia, Abnormal platelet granules, Giant platelets, Thrombocytopenia, N...	ORPHA:238459
Insulin-Like Growth Factor I Deficiency	Decreased body weight, Short stature, Decreased serum insulin-like growth factor 1, Elevated circ...	OMIM:608747
Vexas Syndrome	Myelodysplasia, Inflammatory abnormality of the skin, Arthritis, Neutrophilic infiltration of the...	OMIM:301054
Hypermanganesemia With Dystonia 1	Cirrhosis, Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubine...	OMIM:613280
Sheehan Syndrome	Abnormal size of pituitary gland, Gonadotropin deficiency, Decreased serum estradiol, Impotence, ...	ORPHA:91355
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia, Jaundice, Intrauterine growth retarda...	OMIM:266200
Anemia, Congenital Dyserythropoietic, Type Ia	Hemolytic anemia, Hyperbilirubinemia, Mild postnatal growth retardation, Erythroid hyperplasia, R...	OMIM:224120
Aicardi-Goutieres Syndrome 1	Prolonged neonatal jaundice, Short stature, Multiple gastric polyps, Chilblains, Elevated hepatic...	OMIM:225750
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Abnormal size of pituitary gland, Decreased response to growth hormone stimulation test, Decrease...	ORPHA:293978
Hemangioma-Thrombocytopenia Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia, Hyperkalemia, Hemangioma	OMIM:141000
Liver Failure, Infantile, Transient	Elevated circulating alanine aminotransferase concentration, Microvesicular hepatic steatosis, Ja...	OMIM:613070
Lichen Planopilaris	Hepatitis	ORPHA:525
Immunodeficiency 10	Hypoplasia of the iris, Kaposi's sarcoma, Autoimmune hemolytic anemia, Lymphadenopathy, Thrombocy...	OMIM:612783
Popliteal Pterygium Syndrome	Hypoplasia of the vagina, Bifid scrotum, Hypoplastic labia majora, Cryptorchidism, Small scrotum,...	OMIM:119500
Adams-Oliver Syndrome	Leukopenia, Cirrhosis, Cataract, Microphthalmia, Portal hypertension, Pulmonary artery atresia, A...	ORPHA:974
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Poikilocytosis, Anisocytosis, Cryptorchidism, Hypochromic anemia, Abnormal lactate dehydrogenase ...	ORPHA:67044
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Elevated circulating thyroid-stimulating hormone conc...	ORPHA:209905
Retinitis Pigmentosa 26	Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:608380
Peutz-Jeghers Syndrome	Pancreatic adenocarcinoma, Cervix cancer, Anemia, Breast carcinoma, Neoplasm of the nose, Enlarge...	ORPHA:2869
Dengue Fever	Leukopenia, Skin rash, Hypoproteinemia, Hepatomegaly, Ascites, Thrombocytopenia	ORPHA:99828
Beta-Thalassemia Intermedia	Cholelithiasis, Cirrhosis, Abnormality of iron homeostasis, Abnormality of the liver, Decreased l...	ORPHA:231222
T-Cell Lymphoma, Subcutaneous Panniculitis-Like	Anemia, Subcutaneous panniculitis-like T-cell lymphoma, Pancytopenia, Increased circulating ferri...	OMIM:618398
Leukocyte Adhesion Deficiency, Type Iii	Abnormal lymph node morphology, Abnormality of thrombocytes, Anemia, Recurrent skin infections, H...	OMIM:612840
Thyrocerebrorenal Syndrome	Euthyroid goiter, Thrombocytopenia, Nephritis	ORPHA:3327
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Short stature, Hepatocellular adenoma, Abnormal erythrocyte ...	ORPHA:264580
Sweet Syndrome	Acute myeloid leukemia, Acne inversa, Myositis, Neoplasm, Hematological neoplasm, Panniculitis, B...	ORPHA:3243
Microphthalmia, Syndromic 9	Short stature, Bicornuate uterus, Cryptorchidism, Intrauterine growth retardation, Hypoplasia of ...	OMIM:601186
Thymic Aplasia	Hypocalcemic tetany, Chronic oral candidiasis, T lymphocytopenia, Coombs-positive hemolytic anemi...	ORPHA:83471
Aminopterin/Methotrexate Embryofetopathy	Meningocele, Spinal dysraphism, Encephalocele, Short stature, Anencephaly, Hydrocephalus, Holopro...	ORPHA:1908
Retinitis Pigmentosa 19	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:601718
Hepatocellular Carcinoma	Hemobilia, Anemia, Abnormality of the liver, Liver abscess, Hepatic necrosis, Hypokalemia, Hyperb...	ORPHA:88673
Proteasome-Associated Autoinflammatory Syndrome 1	Increased circulating interleukin 8 concentration, Elevated hepatic transaminase, Recurrent sinus...	OMIM:256040
Kaposiform Lymphangiomatosis	Pancreatic cysts, Papilloma, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lympha...	ORPHA:464329
Pituitary Carcinoma	Pituitary thyrotropic cell adenoma, Enlarged pituitary gland, Diabetes insipidus, Pituitary corti...	ORPHA:300385
Congenital Disorder Of Glycosylation, Type Iiq	Decreased circulating ceruloplasmin concentration, Elevated hepatic transaminase, Decreased circu...	OMIM:617395
Neutropenia, Severe Congenital, 8, Autosomal Dominant	Exocrine pancreatic insufficiency, Neutropenia, Elevated hepatic transaminase	OMIM:618752
Letterer-Siwe Disease	Anemia, Jaundice, Stomatitis, Hepatosplenomegaly, Thrombocytopenia, Neutropenia, Seborrheic derma...	OMIM:246400
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Testicular atrophy	OMIM:601163
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Lymphoma, Acute myeloid leukemia, Abnormal alpha granule content, Myelodysplasia, Impaired platel...	OMIM:601399
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
Hoyeraal-Hreidarsson Syndrome	Anemia, Short stature, Neoplasm, Bone marrow hypocellularity, Thrombocytopenia, Abnormal leukocyt...	ORPHA:3322
Caroli Disease	Biliary cirrhosis, Conjunctival icterus, Cholangiocarcinoma, Hepatomegaly, Splenomegaly, Conjugat...	ORPHA:53035
Myasthenia Gravis	Hemolytic anemia, Rheumatoid arthritis, Hepatitis, Myositis, Hashimoto thyroiditis, Pure red cell...	ORPHA:589
Aicardi-Goutieres Syndrome 5	Thrombocytopenia, Chilblains, Increased circulating interferon-gamma concentration	OMIM:612952
Retinitis Pigmentosa 28	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Optic disc pallor	OMIM:606068
Fetal Gaucher Disease	Pancytopenia, Thrombocytopenia, Hepatomegaly, Abnormality of the spleen, Splenomegaly	ORPHA:85212
Glycogen Storage Disease Due To Phosphorylase Kinase Deficiency	Hepatic fibrosis, Cirrhosis, Hepatocellular adenoma, Abnormal erythrocyte enzyme level, Hepatocel...	ORPHA:370
Congenital Erythropoietic Porphyria	Reduced haptoglobin level, Leukopenia, Abnormal circulating porphyrin concentration, Recurrent ba...	ORPHA:79277
Hepatorenocardiac Degenerative Fibrosis	Cirrhosis, Hypersplenism, Jaundice, Elevated hepatic transaminase, Hepatocellular carcinoma, Hepa...	OMIM:619902
Vaginal Atresia	Imperforate hymen, Uterus didelphys, Bicornuate uterus, Transverse vaginal septum, Abnormality of...	ORPHA:65681
Juvenile Dermatomyositis	Calcinosis, Skin rash, Arthritis, Elevated circulating creatine kinase concentration, Pericarditi...	ORPHA:93672
Toxic Epidermal Necrolysis	Conjunctivitis, Abnormal pleura morphology, Anemia, Recurrent respiratory infections, Corneal ero...	ORPHA:537
Combined Oxidative Phosphorylation Deficiency 18	Intrauterine growth retardation, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Visua...	OMIM:615578
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Macrothrombocytopenia, Thrombocytopenia, Impaired platelet aggregation	OMIM:124900
Familial Exudative Vitreoretinopathy	Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret...	ORPHA:891
Ophthalmomandibulomelic Dysplasia	Coxa valga, Radial bowing, Lateral humeral condyle aplasia, Mesomelia, Fibular hypoplasia	OMIM:164900
Infantile Liver Failure Syndrome 3	Jaundice, Elevated hepatic transaminase, Hepatic bridging fibrosis, Hepatic steatosis, Hyperammon...	OMIM:618641
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98754
Bronchial Neuroendocrine Tumor	Abnormal pulmonary interstitial morphology, Hepatic failure, Increased circulating cortisol level...	ORPHA:97287
Congenital Disorder Of Glycosylation, Type Iif	Pulmonary hemorrhage, Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia...	OMIM:603585
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency	Anemia, Hepatic fibrosis, Cirrhosis, Short stature, Hepatocellular adenoma, Hepatocellular carcin...	ORPHA:79240
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Hepatic failure, Hepatitis, Elevated hepatic transaminase, Hyperammonemia, Hepatomegaly, Hyperorn...	ORPHA:415
Platelet Signal Processing Defect	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet a...	OMIM:173590
Peripheral Primitive Neuroectodermal Tumor	Anemia, Increased circulating lactate dehydrogenase concentration, Pelvic mass, Neoplasm of the p...	ORPHA:370348
Omodysplasia 1	Short tibia, Limited knee flexion/extension, Anterolateral radial head dislocation, Rhizomelia, M...	OMIM:258315
Microsporidiosis	Brain abscess, Prostatitis, Biliary tract abnormality, Myositis, Decreased proportion of CD4-posi...	ORPHA:2552
Retinitis Pigmentosa 88	Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of retinal blood vesse...	OMIM:618826
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypophosphatemia, Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concen...	OMIM:616026
Rift Valley Fever	Anemia, Hepatitis, Skin rash, Jaundice, Elevated hepatic transaminase, Uveitis, Thrombocytopenia,...	ORPHA:319251
Lujo Hemorrhagic Fever	Leukopenia, Maculopapular exanthema, Rhinitis, Fulminant hepatitis, Skin rash, Elevated hepatic t...	ORPHA:319213
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Absent specific antibody response, Eosinophilia, Hepatomegaly, Pneumonia, Splenomegaly, B-cell ly...	OMIM:102700
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Ventricular septal defect, Atrial septal defect, Hypospadias, Hypopl...	OMIM:309801
Leber Congenital Amaurosis 9	Optic atrophy, Retinal dots, Retinal pigment epithelial mottling, Macular atrophy, Bone spicule p...	OMIM:608553
Aicardi-Goutieres Syndrome 7	Anemia, Atopic dermatitis, Atrophic gastritis, Hemolytic anemia, Increased circulating antibody l...	OMIM:615846
Glycogen Storage Disease Ixc	Cirrhosis, Elevated hepatic transaminase, Increased hepatic glycogen content, Bile duct prolifera...	OMIM:613027
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Decreased plasma carnitine, Elevated hepatic tr...	ORPHA:99901
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Glomerulonephritis, Thrombocytopenia, Increased circulating IgA level	OMIM:314000
Wolfram Syndrome 1	Hypothyroidism, Diabetes insipidus, Testicular atrophy, Diabetes mellitus, Growth delay	OMIM:222300
Dent Disease 1	Thin bony cortex, Recurrent fractures, Osteomalacia, Hypophosphatemia, Sparse bone trabeculae, Ri...	OMIM:300009
Myotonic Dystrophy 1	Testicular atrophy, Cholelithiasis, Hypogonadism	OMIM:160900
Methylmalonic Aciduria, Cblb Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Decreased methylmalonyl-CoA mutase...	OMIM:251110
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia, Cerebral visual impairment, Short stature, Visual impairment	OMIM:616577
Blackfan-Diamond Anemia	Acute myeloid leukemia, Myelodysplasia, Osteosarcoma, Thrombocytopenia, Normochromic anemia, Aden...	ORPHA:124
Cutaneous Neuroendocrine Carcinoma	Squamous cell carcinoma of the skin, Lymphoid leukemia, Neoplasm of the outer ear, Multiple myelo...	ORPHA:79140
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Congenital thrombocytopenia, Hydrocele testis, Thrombocytopenia, Neutropenia	OMIM:616738
Combined Oxidative Phosphorylation Deficiency 14	Anemia, Elevated hepatic iron concentration, Increased hepatic glycogen content, Growth delay, Vi...	OMIM:614946
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Lymphadenitis, Anemia, Hepatic fibrosis, Erythroderma, Elevated hepatic transaminase, Eczema, Ele...	OMIM:615895
Pneumocystosis	Chronic oral candidiasis, Increased circulating antibody level, Interstitial pneumonitis, Pleural...	ORPHA:723
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Anemia, Dysplastic erythropoesis, Reticulocytopenia, Anisopoikilocytosis, Decreased transferrin s...	ORPHA:300298
Acute Promyelocytic Leukemia	Leukopenia, Anemia, Stomatitis, Pancytopenia, Diffuse alveolar hemorrhage, Lymphadenopathy, Leuko...	ORPHA:520
Retinitis Pigmentosa 79	Optic disc pallor, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:617460
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:98793
Hereditary Spherocytosis	Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Anemia, Spontaneous hemolyti...	ORPHA:822
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Anemia, Decreased circulating antibody level, Hypoproteinemia, Thrombocytosis, Hepatomegaly, Grow...	OMIM:226300
Bleeding Disorder, Platelet-Type, 24	Impaired arachidonic acid-induced platelet aggregation, Impaired ADP-induced platelet aggregation...	OMIM:619271
Lysinuric Protein Intolerance	Leukopenia, Anemia, Intraalveolar phospholipid accumulation, Pulmonary hemorrhage, Short stature,...	OMIM:222700
Methylmalonic Aciduria, Cbla Type	Anemia, Hyperglycinemia, Methylmalonic acidemia, Pancytopenia, Decreased methylmalonyl-CoA mutase...	OMIM:251100
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Aplasia of the uterus, Hypoparathyroidism, Primary amenorrhea, Septate vagina, Aplasia of the vag...	OMIM:146255
Wolman Disease	Anemia, Hepatic failure, Steatorrhea, Bone-marrow foam cells, Hepatomegaly, Growth delay, Ascites...	ORPHA:75233
Hermansky-Pudlak Syndrome 9	Leukopenia, Ocular albinism, Recurrent skin infections, Thrombocytopenia, Abnormal platelet aggre...	OMIM:614171
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177904
Wiskott-Aldrich Syndrome	Recurrent sinusitis, Eczema, Eosinophilia, Decreased proportion of CD4-positive helper T cells, D...	OMIM:301000
Reactive Arthritis	Conjunctivitis, Abnormal pleura morphology, Recurrent aphthous stomatitis, Osteomyelitis, Enthesi...	ORPHA:29207
Orofaciodigital Syndrome X	Hand oligodactyly, Coalescence of tarsal bones, Preaxial hand polydactyly, Fibular aplasia	OMIM:165590
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:177901
Infantile Liver Failure Syndrome 2	Jaundice, Acute hepatic failure, Elevated hepatic transaminase, Hyperammonemia	OMIM:616483
Lathosterolosis	Hepatic failure, Anisopoikilocytosis, Opacification of the corneal stroma, Intrahepatic cholestas...	ORPHA:46059
Spondyloenchondrodysplasia	Juvenile rheumatoid arthritis, Hepatitis, Arthritis, Skin rash, Granuloma, Pancytopenia, Autoimmu...	ORPHA:1855
Autosomal Recessive Polycystic Kidney Disease	Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Hyponatremia, Throm...	ORPHA:731
Simple Cryoglobulinemia	Monoclonal elevation of circulating IgA, Chronic lymphatic leukemia, Arthritis, Monoclonal elevat...	ORPHA:91139
Gaucher Disease, Perinatal Lethal	Anemia, Hepatic failure, Ascites, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatomegaly, Intraut...	OMIM:608013
Turner Syndrome Due To Structural X Chromosome Anomalies	Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame...	ORPHA:99413
Mosaic Monosomy X	Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame...	ORPHA:99228
Monosomy X	Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame...	ORPHA:99226
Turner Syndrome	Gonadoblastoma, Increased circulating gonadotropin level, Delayed social development, Primary ame...	ORPHA:881
Central Retinal Vein Occlusion	Macular edema, Retinal vascular tortuosity, Macular degeneration, Epiretinal membrane, Retinal ne...	ORPHA:411527
Cirrhosis, Familial	Cirrhosis, Biliary cirrhosis, Fulminant hepatitis, Jaundice, Micronodular cirrhosis, Increased le...	OMIM:215600
1Q41Q42 Microdeletion Syndrome	Short stature, Pulmonary hypoplasia, Hyposegmentation of neutrophil nuclei, Growth delay, Cryptor...	ORPHA:250999
Moyamoya Disease With Early-Onset Achalasia	Thrombocytopenia, Abnormal platelet aggregation	ORPHA:401945
Pseudo-Torch Syndrome 3	Lymphadenitis, Anemia, Increased circulating ferritin concentration, Leukocytosis, Cardiomegaly, ...	OMIM:618886
Acute Panmyelosis With Myelofibrosis	Acute myeloid leukemia, Acute myelomonocytic leukemia, Lymphocytosis, Pancytopenia, Bone marrow h...	ORPHA:86843
Alg12-Cdg	Abnormal circulating IgG level, Complete or near-complete absence of specific antibody response t...	ORPHA:79324
Prader-Willi Syndrome	Central hypothyroidism, Precocious puberty, Hypoplastic labia majora, Small pituitary gland, Prim...	ORPHA:739
Bloom Syndrome	Small for gestational age, Premature ovarian insufficiency, Azoospermia, Diabetes mellitus, Oligo...	ORPHA:125
Microphthalmia With Limb Anomalies	Foot oligodactyly, Capitate-hamate fusion, 2-5 toe syndactyly, Toe syndactyly, Hip dislocation, M...	OMIM:206920
Fanconi Anemia, Complementation Group D2	Anemia, Reticulocytopenia, Short stature, Pancytopenia, Prolonged G2 phase of cell cycle, Bone ma...	OMIM:227646
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Conjunctivitis, Cirrhosis, Decreased circulating ceruloplasmin concentration, Elevated hepatic tr...	OMIM:242150
Hereditary Elliptocytosis	Stomatocytosis, Congenital hemolytic anemia, Hemolytic anemia, Elliptocytosis, Hyperbilirubinemia...	ORPHA:288
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Megaloblastic anemia, Anisopoikilocytosis, Abnormal hemoglobin concentration, ...	ORPHA:35858
Diffuse Cutaneous Systemic Sclerosis	Arthritis, Pulmonary fibrosis	ORPHA:220393
Wild Type Attr Amyloidosis	Abnormal pulmonary interstitial morphology, Pulmonary edema, Pleural effusion, Elevated circulati...	ORPHA:330001
Dyskeratosis Congenita, Autosomal Recessive 2	Cirrhosis, Pancytopenia, Testicular atrophy, Bone marrow hypocellularity, Growth delay, Thrombocy...	OMIM:613987
Aregenerative Anemia	Reticulocytopenia, Abnormal proportion of CD8-positive T cells, Erythroid hypoplasia, Pancytopeni...	ORPHA:101096
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Posterior Meningocele	Meningocele, Neural tube defect, Occipital meningocele, Hydrocephalus, Lipomyelomeningocele	ORPHA:268810
Orofaciodigital Syndrome Type 2	Short tibia, Broad first metatarsal, Mesomelic leg shortening, Finger syndactyly, Micrognathia, P...	ORPHA:2751
Amoebiasis Due To Entamoeba Histolytica	Anemia, Pleural empyema, Liver abscess, Elevated hepatic transaminase, Lung abscess, Pleural effu...	ORPHA:67
Acromelic Frontonasal Dysostosis	Short tibia, Polydactyly, Patellar hypoplasia, Preaxial foot polydactyly, Syndactyly, Preaxial po...	OMIM:603671
Nijmegen Breakage Syndrome	Lymphoma, Medulloblastoma, T lymphocytopenia, B lymphocytopenia, Bronchiectasis, Glioma, Short st...	OMIM:251260
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Anemia, Squamous cell carcinoma of the skin, Decreased circulating antibody level, Photophobia, C...	ORPHA:79396
Dohle Bodies And Leukemia	Leukocyte inclusion bodies, Acute myeloid leukemia, Anemia	OMIM:223350
Kawasaki Disease	Conjunctivitis, Abnormal pulmonary interstitial morphology, Hepatitis, Skin rash, Jaundice, Arthr...	ORPHA:2331
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Radial bowing, Micrognathia, Lower limb undergrowth, Abnormality of the lower limb, Abnormality o...	ORPHA:3035
Dyskeratosis Congenita, Digenic	Anemia, Decreased circulating total IgM, Squamous cell carcinoma of the skin, Short stature, Decr...	OMIM:620040
Bernard-Soulier Syndrome	Thrombocytopenia, Macrothrombocytopenia, Impaired ristocetin-induced platelet aggregation, Giant ...	OMIM:231200
Macular Dystrophy With Central Cone Involvement	Perifoveal ring of hyperautofluorescence, Bull's eye maculopathy, Macular dystrophy, Optic disc p...	OMIM:616170
Blepharocheilodontic Syndrome 1	Neural tube defect	OMIM:119580
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cryptorchidism, Optic disc pallor	OMIM:613730
Shwachman-Diamond Syndrome 2	Short stature, Normocytic anemia, Hyperechogenic pancreas, Steatorrhea, Hepatomegaly, Exocrine pa...	OMIM:617941
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Short tibia, Coxa valga, Micrognathia, Epiphyseal stippling, Camptodactyly, Metatarsus adductus, ...	ORPHA:96334
Liver Disease, Severe Congenital	Elevated hepatic transaminase, Portal inflammation, Cholesteatoma, Elevated circulating alpha-fet...	OMIM:619991
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome	Polycystic ovaries, Elevated circulating growth hormone concentration, Enlarged polycystic ovarie...	ORPHA:90301
Prader-Willi-Like Syndrome	Central hypothyroidism, Precocious puberty, Decreased circulating T4 concentration, Primary ameno...	ORPHA:398073
Holocarboxylase Synthetase Deficiency	Keratoconjunctivitis, Eczema, Perioral eczema, Hyperammonemia, Growth delay, Thrombocytopenia	ORPHA:79242
Dehydrated Hereditary Stomatocytosis 2	Increased mean corpuscular hemoglobin concentration, Hemolytic anemia, Anisopoikilocytosis, Hyper...	OMIM:616689
Rothmund-Thomson Syndrome	Increased susceptibility to fractures, Malar rash, Anemia, Calcinosis, Abnormal trabecular bone m...	ORPHA:2909
Isovaleric Acidemia	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Pancytopenia	OMIM:243500
Crimean-Congo Hemorrhagic Fever	Hemoperitoneum, Elevated circulating creatine kinase concentration, Parotitis, Hepatomegaly, Thro...	ORPHA:99827
Pigmented Nodular Adrenocortical Disease, Primary, 2	Increased circulating cortisol level, Decreased circulating ACTH level, Hypertension, Pigmented m...	OMIM:610475
Zygomycosis	Endocarditis, Brain abscess, Enterocolitis, Neutropenia, Hepatitis, Fasciitis, Peritonitis, Nephr...	ORPHA:73263
Bone Marrow Failure Syndrome 6	Anemia, Recurrent sinusitis, Lymphopenia, Persistence of hemoglobin F, Squamous cell carcinoma of...	OMIM:618849
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Short tibia, Hypoplastic pubic bone, Short ribs, Short long bone, Micrognathia, Preaxial polydact...	OMIM:617925
Kasabach-Merritt Syndrome	Leukopenia, Anemia, Microangiopathic hemolytic anemia, Tufted angioma, Capillary hemangioma, Reti...	ORPHA:2330
Platelet Glycoprotein Iv Deficiency	Thrombocytopenia, Giant platelets	OMIM:608404
Hereditary Folate Malabsorption	Megaloblastic anemia, Decreased circulating antibody level, Pancytopenia, Eosinophilia, Thrombocy...	ORPHA:90045
Fanconi Anemia, Complementation Group F	Leukopenia, Anemia, Decreased response to growth hormone stimulation test, Short stature, Bone ma...	OMIM:603467
Celiac Disease, Susceptibility To, 1	Lymphoma, Recurrent aphthous stomatitis, Short stature, Thyroiditis, Elevated hepatic transaminas...	OMIM:212750
Thrombocytopenia 5	Anemia, Thrombocytopenia, Neutropenia	OMIM:616216
Stt3B-Cdg	Small scrotum, Micropenis, Optic atrophy, Cryptorchidism	ORPHA:370924
Telangiectasia, Hereditary Hemorrhagic, Type 5	Portal hypertension, Elevated hepatic transaminase	OMIM:615506
Pseudo-Torch Syndrome 2	Elevated hepatic transaminase, Pleural effusion, Thrombocytopenia, Hepatomegaly, Ascites	OMIM:617397
Congenital Dyserythropoietic Anemia Type Iii	Anemia, Increased total iron binding capacity, Hyperbilirubinemia, Elevated hepatic transaminase,...	ORPHA:98870
Thyrocerebroretinal Syndrome	Thrombocytopenia, Nephritis, Goiter	OMIM:274240
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Elevated circulating creatine kinase concentration, Cholelithiasis, Thrombocytopenia, Intrauterin...	OMIM:618775
Marburg Hemorrhagic Fever	Elevated hepatic transaminase, Reticulocytosis, Elevated circulating creatine kinase concentratio...	ORPHA:99826
Isolated Biliary Atresia	Atretic gallbladder, Cirrhosis, Periportal fibrosis, Jaundice, Elevated hepatic transaminase, Ach...	ORPHA:30391
Postinfectious Vasculitis	Bacterial endocarditis, Inflammatory abnormality of the skin, Elevated haptoglobin level, Increas...	ORPHA:48435
Castleman Disease	Anemia, Increased circulating interleukin 6 concentration, Jaundice, Generalized lymphadenopathy,...	ORPHA:160
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Preaxial hand polydactyly, Short ribs, Short long bone,...	OMIM:263520
Mogs-Cdg	Decreased circulating total IgM, Pulmonary edema, Decreased circulating antibody level, Left vent...	ORPHA:79330
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Nonprogressive visual loss, Short stature, Reduced visual acuity, Hyposegmentation of neutrophil ...	OMIM:614800
Hardikar Syndrome	Elevated hepatic transaminase, Portal inflammation, Hepatosplenomegaly, Pulmonary artery stenosis...	OMIM:301068
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Leukopenia, Anemia, Hyperuricemia, Pancytopenia, Increased blood urea nitrogen, Hyponatremia, Thr...	OMIM:613845
Congenital Disorder Of Glycosylation, Type Ix	Small scrotum, Micropenis, Optic atrophy, Cryptorchidism	OMIM:615597
Giant platelet syndrome with thrombocytopenia	Thrombocytopenia, Giant platelets	OMIM:137560
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, T lymphocytopenia, Lymphopenia, Verrucae	OMIM:618309
Abetalipoproteinemia	Progressive visual loss, Keratoconjunctivitis sicca, Elevated hepatic transaminase, Reticulocytos...	ORPHA:14
Bardet-Biedl Syndrome 1	Hypogonadism, Decreased testicular size, Delayed speech and language development, Abnormality of ...	OMIM:209900
Barth Syndrome	Abnormality of neutrophils	ORPHA:111
Platelet Disorder, Undefined	Thrombocytopenia, Neuroblastoma, Impaired platelet aggregation, Hematological neoplasm	OMIM:173420
Tick-Borne Encephalitis	Leukopenia, Myelitis, Abnormality of serum cytokine level, Elevated hepatic transaminase, Elevate...	ORPHA:297
Blue Rubber Bleb Nevus	Cerebellar medulloblastoma, Abnormality of the liver, Hemangioma, Iron deficiency anemia, Thrombo...	OMIM:112200
Alport Syndrome 1, X-Linked	Corneal erosion, Diffuse leiomyomatosis, Lenticonus, Anterior lenticonus, Developmental cataract,...	OMIM:301050
Craniosynostosis With Fibular Aplasia	Fibular aplasia	OMIM:218550
Dubowitz Syndrome	Lymphoma, Anemia, Short stature, Acute lymphoblastic leukemia, Eczema, Abnormality of neutrophils...	ORPHA:235
Turcot Syndrome With Polyposis	Neoplasm of the central nervous system, Ependymoma, Hepatoblastoma, Soft tissue neoplasm, Glioma,...	ORPHA:99818
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Heinz bodies, Unconjugated hyperbilirubinemia, Jaundice, Fava bean-induced hemolytic anemia, Reti...	OMIM:300908
Neuroleptic Malignant Syndrome	Hyperphosphatemia, Hyperuricemia, Aspiration pneumonia, Hypocalcemia, Hyperkalemia, Elevated hepa...	ORPHA:94093
Eiken Syndrome	Broad femoral neck, Pseudoepiphyses, Long hallux, Narrow pelvis bone, Flat acetabular roof, Clino...	OMIM:600002
Alström Syndrome	Oligospermia, Decreased circulating T4 concentration, Delayed menarche, Type II diabetes mellitus...	ORPHA:64
Mitochondrial Complex I Deficiency, Nuclear Type 20	Hepatic failure, Thrombocytopenia, Microvesicular hepatic steatosis, Elevated hepatic transaminase	OMIM:611126
Bleeding Disorder, Platelet-Type, 21	Impaired ADP-induced platelet aggregation, Eczema, Impaired platelet aggregation, Psoriasiform de...	OMIM:617443
Waldenström Macroglobulinemia	Lymphoma, Leukemia, Normocytic anemia, Abnormality of neutrophils, Pleural effusion, Lymphadenopa...	ORPHA:33226
Saul-Wilson Syndrome	Coxa valga, Short metacarpal, Enlarged epiphyses, Micrognathia, Hypoplasia of the odontoid proces...	OMIM:618150
Braddock-Carey Syndrome 2	Thrombocytopenia, Microphthalmia	OMIM:619981
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatic failure, Cerebral visual impairment, Aspiration pneumonia, Short stature, Micronodular ci...	OMIM:301072
Congenital Disorder Of Glycosylation, Type Iig	Anemia, Rhizomelia, Short stature, Left ventricular hypertrophy, Cholesteatoma, Cryptorchidism, G...	OMIM:611209
Thrombotic Thrombocytopenic Purpura, Hereditary	Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundice, Reticulocytosis, Increa...	OMIM:274150
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Congenital hypoparathyroidism, Male infertility, Parathyroid agenesis	ORPHA:2239
Dent Disease	Thin bony cortex, Recurrent fractures, Osteomalacia, Sparse bone trabeculae, Elevated circulating...	ORPHA:1652
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Radioulnar synostosis, Microretrognathia, Abnormal pelvic girdle bone morpholo...	ORPHA:1788
Chronic Granulomatous Disease	Liver abscess, Inflammatory abnormality of the eye, Eczema, Abnormality of neutrophils, Sinusitis...	ORPHA:379
Cushing Syndrome Due To Ectopic Acth Secretion	Pituitary corticotropic cell adenoma, Suicidal ideation, Atypical pulmonary carcinoid tumor, Adre...	ORPHA:99889
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2	Reduced natural killer cell count, Perianal abscess, Increased circulating interleukin 6 concentr...	OMIM:301074
Hyper-Igd Syndrome	Lymphadenitis, Chronic oral candidiasis, Renal angiomyolipoma, Skin rash, Arthritis, Neutrophilia...	OMIM:260920
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Decreased methionine synthase activity, Megaloblastic anemia, Cystathioninemia, Methylmalonic aci...	OMIM:277400
Relapsing Polychondritis	Conjunctivitis, Recurrent aphthous stomatitis, Scleritis, Hepatitis, Arthritis, Inflammatory abno...	ORPHA:728
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Diabetes insipidus, Increased circulating prolactin concentration, Ante...	ORPHA:91350
Infection-Related Hemolytic Uremic Syndrome	Septic arthritis, Respiratory tract infection, Brain abscess, Myocarditis, Hemolytic anemia, Abno...	ORPHA:544482
Neutral Lipid Storage Disease With Ichthyosis	Abnormal circulating creatine kinase concentration, Short stature, Abnormal granulocyte morpholog...	ORPHA:98907
Occipital Horn Syndrome	Osteomalacia, Hepatitis, Jaundice, Synostosis of joints, Rickets, Osteolysis, Cholestasis, Osteop...	ORPHA:198
Budd-Chiari Syndrome	Cirrhosis, Jaundice, Peritonitis, Elevated hepatic transaminase, Cholecystitis, Hepatomegaly, Por...	ORPHA:131
Eales Disease	Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Vitreous haze, Vitritis, Retin...	ORPHA:40923
8P11.2 Deletion Syndrome	Hypogonadism, Short stature, Hypoplasia of penis, Azoospermia, Growth delay, Cryptorchidism, Hypo...	ORPHA:251066
Smith-Kingsmore Syndrome	Rhizomelia, Thrombocytopenia, Decreased circulating IgA level, Cryptorchidism	OMIM:616638
Alg6-Cdg	Failure to thrive, Increased circulating androgen concentration, Puberty and gonadal disorders	ORPHA:79320
Hypoplasminogenemia	Abnormal fallopian tube morphology, Abnormality of the ovary, Cervicitis	ORPHA:722
Eosinophilic Gastroenteritis	Anemia, Allergic rhinitis, Steatorrhea, Elevated circulating C-reactive protein concentration, Le...	ORPHA:2070
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Conjunctivitis, Leukopenia, Anemia, Recurrent respiratory infections, Enlarged kidney, Hepatosple...	ORPHA:505248
16Q24.3 Microdeletion Syndrome	Astigmatism, Visual impairment, Cryptorchidism, Myopia, Increased mean corpuscular volume, Thromb...	ORPHA:261250
Oslam Syndrome	Increased mean corpuscular volume, Osteosarcoma, Short stature, Abnormality of neutrophils	ORPHA:2760
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Elliptocytosis, Impaired platelet aggregation, Poikilocytosis, Anisocytosis, Bone marrow hypocell...	OMIM:300835
Gaucher Disease, Type Ii	Anemia, Recurrent aspiration pneumonia, Hepatomegaly, Thrombocytopenia, Bronchiolitis, Splenomegaly	OMIM:230900
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Asplenia, Atrophic gastritis, Chronic oral candidiasis, Keratoconjunctivitis, Iridocyclitis, Chro...	OMIM:240300
Bleeding Disorder, Platelet-Type, 15	Platelet anisocytosis, Thrombocytopenia, Increased mean platelet volume	OMIM:615193
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Unconjugated hyperbilirubinemia, Microangiopathic hemolytic anemia, Hypokalemia, Peritonitis, Ret...	ORPHA:90038
Tangier Disease	Chronic noninfectious lymphadenopathy, Anemia, Left ventricular hypertrophy, Hepatosplenomegaly, ...	ORPHA:31150
Hellp Syndrome	Hemolytic anemia, Pulmonary edema, Microangiopathic hemolytic anemia, Decreased mean corpuscular ...	ORPHA:244242
Necrotizing Enterocolitis	Peritonitis, Thrombocytopenia, Leukocytosis, Hyponatremia, Ascites, Neutropenia	ORPHA:391673
Hemochromatosis, Type 5	Anemia, Abnormal circulating copper concentration, Abnormal circulating ceruloplasmin concentrati...	OMIM:615517
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Diabetes mellitus, Parathyroid hypoplasia, Vaginal atresia, Aplasia of the uterus, Hypoparathyroi...	ORPHA:2237
Ciliary Dyskinesia, Primary, 45	Male infertility	OMIM:618801
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia, Amblyopia, Intrauterine growth retardation	OMIM:617710
Porphyria, Congenital Erythropoietic	Conjunctivitis, Hemolytic anemia, Short stature, Corneal scarring, Jaundice, Hepatomegaly, Cholel...	OMIM:263700
Atelosteogenesis, Type I	Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di...	OMIM:108720
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Normocytic anemia, Hyperbilirubinemia, Jaundice, Reticulocytosis, Cholecystitis, Cholelithiasis, ...	OMIM:235700
Interstitial Lung Disease 1	Intralobular septal thickening, Elevated bronchoalveolar lavage fluid neutrophil proportion, Elev...	OMIM:619611
Anemia, Hypochromic Microcytic, With Iron Overload 1	Anemia, Erythroid hyperplasia, Decreased mean corpuscular volume, Elevated hepatic iron concentra...	OMIM:206100
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Hypochromic microcytic anemia, Increased circulating ferritin concentration, Growth delay, Thromb...	ORPHA:3240
Immunodeficiency 108 With Autoinflammation	Impaired neutrophil chemotaxis, Recurrent aphthous stomatitis, Hyposegmentation of neutrophil nuclei	OMIM:260570
Thrombocytopenia 4	Thrombocytopenia, Abnormal platelet volume	OMIM:612004
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Anemia, Cirrhosis, Microvesicular hepatic steatosis, Polysplenia, Macronodular cirrhosis, Hepatic...	OMIM:619418
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Impaired ADP-induced platelet aggregation, Absent...	OMIM:614074
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Thrombocytopenia, Anisopoikilocytosis, Splenomegaly	OMIM:617441
Lumbar Syndrome	Ambiguous genitalia, Bifid scrotum, Hypoplastic labia majora, Bifid uterus, Hypospadias, Cryptorc...	ORPHA:83628
Catastrophic Antiphospholipid Syndrome	Abnormality of serum cytokine level, Arthritis, Coombs-positive hemolytic anemia, Microangiopathi...	ORPHA:464343
Nijmegen Breakage Syndrome	Lymphoma, Hemolytic anemia, Recurrent respiratory infections, Glioma, Short stature, Rhabdomyosar...	ORPHA:647
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypermethioninemia, Hepatic failure, Cirrhosis, Microvesicular hepatic steatosis, Jaundice, Hyper...	OMIM:617156
Chitayat Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Short stature	OMIM:617180
Agammaglobulinemia 9, Autosomal Recessive	Absent circulating B cells, Eczematoid dermatitis, Thrombocytopenia, Agammaglobulinemia, Seborrhe...	OMIM:619693
Alveolar Echinococcosis	Pancreatic cysts, Anemia, Biliary cirrhosis, Decreased liver function, Increased circulating anti...	ORPHA:284
Glycogen Storage Disease Ib	Splenomegaly, Hyperuricemia, Pancreatitis, Elevated hepatic transaminase, Hepatocellular carcinom...	OMIM:232220
Bloom Syndrome	Decreased fertility in females, Small for gestational age, Type II diabetes mellitus, Azoospermia...	OMIM:210900
Hemorrhagic Fever-Renal Syndrome	Tubulointerstitial nephritis, Anemia, Hyperphosphatemia, Increased circulating interleukin 6 conc...	ORPHA:340
Leptospirosis	Hepatitis, Skin rash, Jaundice, Uveitis, Pericarditis, Optic neuritis, Thrombocytopenia, Elevated...	ORPHA:509
Fanconi Anemia	Leukopenia, Anemia, Abnormality of the liver, Abnormal testis morphology, Myelodysplasia, Pyridox...	ORPHA:84
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Aprosencephaly Syndrome	Anencephaly, Aprosencephaly	OMIM:207770
Icf Syndrome	Anemia, Short stature, Decreased circulating antibody level, Lymphopenia, Abnormality of neutroph...	ORPHA:2268
Osteopetrosis With Renal Tubular Acidosis	Leukopenia, Anemia, Short stature, Elliptocytosis, Enlarged tonsils, Hypocalcemia, Pancytopenia, ...	ORPHA:2785
Cln3 Disease	Increased circulating androgen concentration, Aggressive behavior, Anxiety	ORPHA:228346
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Neutropenia, Bone marrow hypocellularity, Anemia	OMIM:614520
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hashimoto thyroiditis, Leukocytosis, Hyponatremia, Thrombocytopenia, Goiter	ORPHA:83601
Chronic Mucocutaneous Candidiasis	Hepatitis, Skin rash, Cheilitis	ORPHA:1334
Ciliary Dyskinesia, Primary, 36, X-Linked	Male infertility	OMIM:300991
Cryptococcosis	Cirrhosis, Nodular pattern on pulmonary HRCT, Osteomyelitis, Lymphoid leukemia, Prostatitis, Blin...	ORPHA:1546
Tyrosinemia, Type Iii	Hypertyrosinemia, Elevated hepatic transaminase	OMIM:276710
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Idiopathic Aplastic Anemia	Anemia, Reticulocytopenia, Pancytopenia, Bone marrow hypocellularity, Thrombocytopenia, Neutropenia	ORPHA:88
Yellow Fever	Elevated circulating alanine aminotransferase concentration, Increased circulating interleukin 6 ...	ORPHA:99829
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Secondary amenorrhea, Premature ovarian insufficiency, Testicular atrophy, Hypergonadotropic hypo...	OMIM:157640
Ghosal Hematodiaphyseal Dysplasia	Leukopenia, Thrombocytopenia, Bone marrow hypocellularity, Refractory anemia	OMIM:231095
Familial Mediterranean Fever	Crohn's disease, Pleuritis, Arthritis, Neutrophilia, Erysipelas, Pleural effusion, Pericarditis, ...	OMIM:249100
Lesch-Nyhan Syndrome	Testicular atrophy, Self-injurious behavior, Short stature	OMIM:300322
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Cataract, Myopia, Thrombocytopenia, Intrauterine growth retardation, Postnatal growth retardation	OMIM:612394
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Lymphocytosis, Skin rash, Recurrent pneumonia, Lymphadenopathy, Colonic eosinophilia, Inflammatio...	OMIM:617718
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Megaloblastic anemia, Methylmalonic acidemia, Jaundice, Hyperhomocystinemia, Elevated circulating...	ORPHA:79282
Lattice Corneal Dystrophy Type I	Slow decrease in visual acuity, Corneal scarring, Central opacification of the cornea, Corneal st...	ORPHA:98964
Congenital Disorder Of Glycosylation, Type Iiw	Anemia, Elevated circulating alanine aminotransferase concentration, Prolonged neonatal jaundice,...	OMIM:619525
Boomerang Dysplasia	Hypoplastic iliac body, Fibular aplasia, Absent radius	OMIM:112310
Combined Oxidative Phosphorylation Deficiency 55	Anemia, Short stature, Hypophosphatemia, Mildly elevated creatine kinase, Elevated circulating cr...	OMIM:619743
Acro-Renal-Mandibular Syndrome	Finger syndactyly, Hypoplasia of the radius, Micrognathia, Hip dislocation, Hypoplasia of the uln...	ORPHA:958
Retinitis Pigmentosa 86	Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin...	OMIM:618613
Thrombocytopenia-Absent Radius Syndrome	Short phalanx of finger, Absent thumb, Coxa valga, Patellar dislocation, Micrognathia, Hip disloc...	OMIM:274000
Oculocerebrorenal Syndrome Of Lowe	Neoplasm of the skin, Buphthalmos, Hypercholesterolemia, Hyponatremia, Odontogenic neoplasm, Thro...	ORPHA:534
Diamond-Blackfan Anemia 1	Reticulocytopenia, Myelodysplasia, Short stature, Primary congenital glaucoma, Colon cancer, Thro...	OMIM:105650
Familial Pancreatic Carcinoma	Pancreatic adenocarcinoma, Breast carcinoma, Extrahepatic cholestasis, Peritoneal abscess, Jaundi...	ORPHA:1333
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Stomatocytosis, Splenomegaly, Impaired collagen-related peptide-induced platelet aggregation, Hem...	OMIM:153670
Kyphomelic Dysplasia	Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F...	OMIM:211350
Rothmund-Thomson Syndrome Type 2	Anemia, Neutropenia, Calcinosis, Abnormal trabecular bone morphology, Finger symphalangism, Aplas...	ORPHA:221016
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Hepatocellular carcinoma, Hepatic steatosis, Hyperlipidemia, Hepatocellular adenoma, Hypercholest...	ORPHA:79259
Gardner Syndrome	Neoplasm of the pancreas, Hepatoblastoma, Esophageal carcinoma, Papillary thyroid carcinoma, Brea...	ORPHA:79665
Jacobsen Syndrome	Amblyopia, Annular pancreas, Microcornea, Iris coloboma, Microphthalmia, Cryptorchidism, Thromboc...	OMIM:147791
Tyrosinemia, Type I	Hypermethioninemia, Anemia, Cirrhosis, Hepatic failure, Enlarged kidney, Hepatocellular carcinoma...	OMIM:276700
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Optic disc pallor, Rod-cone dystrophy, Reduced sperm motility, Macular atrophy	OMIM:615434
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Chronic bronchitis, Bronchiectasis, Honeycomb lung, Emphysema, Hyper...	ORPHA:79127
Digeorge Syndrome	Hypoplasia of the thymus, Recurrent sinusitis, Hepatic steatosis, Parathyroid hypoplasia, Impaire...	OMIM:188400
Paroxysmal Nocturnal Hemoglobinuria	Reduced haptoglobin level, Leukopenia, Anemia, Hemolytic anemia, Unconjugated hyperbilirubinemia,...	ORPHA:447
Peters Plus Syndrome	Rhizomelia, Short stature, Anterior hypopituitarism, Clitoral hypoplasia, Hypospadias, Disproport...	ORPHA:709
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Hypoplasia of the thymus, Hepatitis, Autoimmune hemolytic anemia, Hashimoto t...	ORPHA:436252
Rothmund-Thomson Syndrome Type 1	Anemia, Calcinosis, Abnormal trabecular bone morphology, Finger symphalangism, Osteopenia, Aplast...	ORPHA:221008
Gray Platelet Syndrome	Abnormal number of alpha granules, Impaired collagen-induced platelet aggregation, Thrombocytopen...	OMIM:139090
Ciliary Dyskinesia, Primary, 34	Male infertility, Immotile sperm	OMIM:617091
Diamond-Blackfan Anemia 21	Anemia, Short stature, Erythroid hypoplasia, Osteosarcoma, Thrombocytopenia	OMIM:620072
Retinitis Pigmentosa 10	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:180105
Intellectual Developmental Disorder And Retinitis Pigmentosa	Peripapillary atrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation...	OMIM:618195
Snakebite Envenomation	Thrombocytopenia, Hypopituitarism, Hyponatremia	ORPHA:449285
Gastrointestinal Stromal Tumor	Neoplasm of the stomach, Anemia, Abnormality of the liver, Neoplasm of the gastrointestinal tract...	ORPHA:44890
Aicardi-Goutières Syndrome	Developmental glaucoma, Chronic lymphatic leukemia, Short stature, Arthritis, Chilblains, Elevate...	ORPHA:51
Braddock-Carey Syndrome 1	Thrombocytopenia, Growth delay	OMIM:619980
Oculocerebral Hypopigmentation Syndrome, Preus Type	Short stature, Ocular albinism, Iris hypopigmentation, Abnormality of neutrophils, Cataract, Hypo...	ORPHA:2720
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility	Male infertility	OMIM:618948
Fibrochondrogenesis 1	Dumbbell-shaped long bone, Short foot, Rhizomelia, Short ribs, Short long bone, Small hand, Narro...	OMIM:228520
Alg3-Cdg	Neural tube defect	ORPHA:79321
Acute Liver Failure	Hepatocellular necrosis, Hepatic necrosis, Jaundice, Hepatitis, Elevated hepatic transaminase, Sk...	ORPHA:90062
Acute Disseminated Encephalomyelitis	Viral hepatitis, Optic neuritis, Myelitis, Herpes simplex encephalitis	ORPHA:83597
Omodysplasia 2	Rhizomelic arm shortening, Broad femoral neck, Short 1st metacarpal, Micrognathia, Clinodactyly o...	OMIM:164745
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Microangiopathic hemolytic anemia, Reticulocytosis, Increased blood urea nitrogen, Schistocytosis...	OMIM:235400
Stankiewicz-Isidor Syndrome	Shawl scrotum, Pineal cyst, Abnormal optic disc morphology, Hypospadias, Cryptorchidism, Micropenis	OMIM:617516
Noonan Syndrome 4	Thrombocytopenia, Blue irides, Short stature, Cryptorchidism	OMIM:610733
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome	Primary amenorrhea, Decreased testicular size, Abnormal optic disc morphology, Cryptorchidism, Hy...	ORPHA:293967
Lysosomal Acid Lipase Deficiency	Hypercholesterolemia, Anemia, Hepatic fibrosis, Microvesicular hepatic steatosis, Hepatic failure...	ORPHA:275761
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of retinal pigmentation	ORPHA:65
Retinitis Pigmentosa 41	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:612095
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Immunodeficiency 55	Short stature, Myelodysplasia, Intrauterine growth retardation, Eczema, Lymphopenia, Lymphadenopa...	OMIM:617827
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612926
Cone-Rod Dystrophy 3	Cone/cone-rod dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bull's eye macu...	OMIM:604116
Fanconi Anemia, Complementation Group B	Abnormal lung lobation, Thrombocytopenia, Growth delay, Aplastic anemia, Intrauterine growth reta...	OMIM:300514
21Q22.11Q22.12 Microdeletion Syndrome	Anemia, Short stature, Recurrent otitis media, Thrombocytopenia, Hypoplastic nipples, Postnatal g...	ORPHA:261323
Bleeding Disorder, Platelet-Type, 17	Impaired epinephrine-induced platelet aggregation, Macrothrombocytopenia, Increased RBC distribut...	OMIM:187900
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612925
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Esophageal carcinoma, Papillary thyroid carcinoma, Breast carcinoma, As...	ORPHA:247806
Phocomelia, Schinzel Type	Foot oligodactyly, Humeroradial synostosis, Hypoplasia of the radius, Micrognathia, Radial bowing...	ORPHA:2879
Primary Fanconi Renotubular Syndrome	Hypophosphatemia, Decreased plasma carnitine, Hypokalemia, Hypophosphatemic rickets, Growth delay...	ORPHA:3337
Retinitis Pigmentosa 46	Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic disc pallor	OMIM:612572
Retinitis Pigmentosa 72	Rod-cone dystrophy, Peripapillary atrophy, Bone spicule pigmentation of the retina, Attenuation o...	OMIM:616469
22Q11.2 Deletion Syndrome	Hypoplasia of the thymus, Impaired T cell function, Hypoparathyroidism, Abnormality of the tonsil...	ORPHA:567
Retinitis Pigmentosa 25	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:602772
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Anemia, Microangiopathic hemolytic anemia, Increased blood urea nitrogen, Elevated circulating cr...	OMIM:612924
Limb-Mammary Syndrome	Hypohidrosis, Aplasia of the ovary, Absent nipple, Breast aplasia, Aplasia of the uterus, Primary...	ORPHA:69085
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia, Amblyopia, Intrauterine growth retardation, Abnormal circulating enzyme concent...	ORPHA:572798
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Respiratory tract infection, Pneumonia, Bronchiolitis obliterans, Bronchiectasis	ORPHA:1303
Retinitis Pigmentosa 58	Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of...	OMIM:613617
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Desquamative inters...	OMIM:263000
Sacral Defect With Anterior Meningocele	Meningocele, Myelomeningocele, Hydrocephalus, Myeloschisis, Dermal sinus tract	OMIM:600145
Peters-Plus Syndrome	Decreased body weight, Bilobate gallbladder, Rhizomelia, Hypoplasia of the vagina, Birth length l...	OMIM:261540
Xeroderma Pigmentosum, Complementation Group B	Squamous cell carcinoma of the skin, Short stature, Basal cell carcinoma, Cataract, Neoplasm, Mic...	OMIM:610651
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Abnormal pulmonary interstitial morphology, Intraalveolar phospholipid accumulation, Interstitial...	ORPHA:217563
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis, Poikilocytosis	OMIM:300367
Mirizzi Syndrome	Cholesterol gallstones, Jaundice, Hyperbilirubinemia, Elevated hepatic transaminase, Pancreatitis...	ORPHA:521219
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Absent gallbladder, Anemia, Short stature, Hyperbilirubinemia, Hypocalcemia, Capillary hemangioma...	ORPHA:163979
Retinitis Pigmentosa 56	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613581
Ciliary Dyskinesia, Primary, 14	Abnormal axonemal organization of respiratory motile cilia, Absent inner dynein arms, Reduced spe...	OMIM:613807
Deeah Syndrome	Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test, Short statu...	OMIM:619004
Ciliary Dyskinesia, Primary, 18	Absent outer dynein arms, Absent inner dynein arms, Male infertility, Immotile sperm	OMIM:614874
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy	ORPHA:440727
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Hyposegmentation of neutrophil nuclei	OMIM:620075
Senior-Boichis Syndrome	Increased total bilirubin, Anemia, Hepatic fibrosis, Cirrhosis, Elevated hepatic transaminase, Ma...	ORPHA:84081
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Abnormality of the liver, Hyperbilirubinemia, Diffuse alveolar hemorrhage, Abnormal lung morpholo...	ORPHA:464321
Cornelia De Lange Syndrome 1	Duplication of internal organs, Short stature, Hypoplastic nipples, Microcornea, Astigmatism, Oti...	OMIM:122470
Chromosome 17Q12 Deletion Syndrome	Unicornuate uterus, Short stature, Delayed speech and language development, Aplasia of the uterus...	OMIM:614527
Chronic Graft Versus Host Disease	Pneumothorax, Bronchiectasis, Arthritis, Fasciitis, Keratoconjunctivitis sicca, Elevated hepatic ...	ORPHA:99921
Ciliary Dyskinesia, Primary, 9	Absent outer dynein arms, Male infertility	OMIM:612444
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Retinitis Pigmentosa 49	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613756
Cogan Syndrome	Conjunctivitis, Anemia, Blindness, Scleritis, Inflammatory abnormality of the eye, Uveitis, Photo...	ORPHA:1467
Jacobsen Syndrome	Short stature, Annular pancreas, Eczema, Microcornea, Iris coloboma, Cataract, Bone marrow hypoce...	ORPHA:2308
Iniencephaly	Spinal dysraphism, Encephalocele, Myelomeningocele, Rhizomelia, Spina bifida, Anencephaly, Hydroc...	ORPHA:63259
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Decreased hemoglobin concentration, Hepatomegaly, Cryptorchidism, Thrombocytopenia, Intrauterine ...	OMIM:619005
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Thrombocytopenia, High nonceruloplasmin-bound serum copper, Cerebral visual impairment, Visual im...	ORPHA:457351
Autosomal Dominant Kenny-Caffey Syndrome	Anemia, Hyperphosphatemia, Hypocalcemic tetany, Short stature, Decreased testicular size, Develop...	ORPHA:93325
Igg4-Related Dacryoadenitis And Sialadenitis	Tubulointerstitial nephritis, Increased circulating IgG4 level, Retroperitoneal fibrosis, Blindne...	ORPHA:79078
Acrorenal-Mandibular Syndrome	Toe syndactyly, Micrognathia, Foot polydactyly, Hypoplasia of the radius, Hand polydactyly, Hip d...	OMIM:200980
Ogden Syndrome	Pulmonary hypoplasia, Eczema, Pulmonary artery stenosis, Peripheral pulmonary artery stenosis, Th...	OMIM:300855
Reynolds Syndrome	Biliary cirrhosis, Calcinosis, Erythema nodosum, Jaundice, Hyperbilirubinemia, Elevated hepatic t...	OMIM:613471
Fraser-Like Syndrome	Ovarian cyst	OMIM:229230
Ciliary Dyskinesia, Primary, 1	Asplenia, Bronchiectasis, Recurrent bronchitis, Chronic sinusitis, Chronic rhinitis, Abnormal cor...	OMIM:244400
Juvenile Glaucoma	Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal optic nerve mo...	ORPHA:98977
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Pleural effusion, Thrombocytopenia, Normochromic anemia, Hypoalbuminemia	OMIM:254900
Wiedemann-Rautenstrauch Syndrome	Increased serum estradiol, Increased circulating prolactin concentration, Increased serum testost...	ORPHA:3455
Campomelic Dysplasia	11 pairs of ribs, Short long bone, Micrognathia, Hypoplastic inferior ilia, Hip dislocation, Femo...	ORPHA:140
Familial Adenomatous Polyposis 4	Ovarian cyst, Uterine leiomyoma, Thyroid adenoma	OMIM:617100
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Hypoplastic ilia, Short ribs, Diaphyseal thickening, Increased fibular...	ORPHA:3144
Blau Syndrome	Anemia, Abnormality of the liver, Iridocyclitis, Erythema nodosum, Skin rash, Synovitis, Pericard...	ORPHA:90340
Wolfram Syndrome 2	Primary amenorrhea, Optic neuropathy, Optic atrophy, Oligomenorrhea	OMIM:604928
Exstrophy-Epispadias Complex	Female sexual dysfunction, Absent penis, Bifid scrotum, Penoscrotal transposition, Male sexual dy...	ORPHA:322
Cardiac-Urogenital Syndrome	Ambiguous genitalia, Cor triatrium sinister, Pericardial effusion, Unilateral cryptorchidism, Biv...	OMIM:618280
Retinitis Pigmentosa 43	Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels...	OMIM:613810
Oculocutaneous Albinism Type 1B	Squamous cell carcinoma of the skin, Iris hypopigmentation, Melanoma, Basal cell carcinoma, Visua...	ORPHA:79434
Norrie Disease	Self-injurious behavior, Anxiety, Uterine rupture, Cachexia, Erectile dysfunction, Failure to thr...	ORPHA:649
Tetrasomy 9P	Absent gallbladder, Delayed speech and language development, Infertility, Intrauterine growth ret...	ORPHA:3310
Igg4-Related Thyroid Disease	Hypothyroidism, Nodular goiter, Thyroiditis, Thyrotoxicosis with diffuse goiter, Graves disease, ...	ORPHA:64744
Oeis Complex	Absent scrotum, Vesicovaginal fistula, Ambiguous genitalia, female, Ambiguous genitalia, male, La...	OMIM:258040
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Retinal degen...	ORPHA:364055
Kenny-Caffey Syndrome, Type 2	Anemia, Hyperphosphatemia, Short stature, Transient hypophosphatemia, Developmental cataract, Sev...	OMIM:127000
Beemer-Ertbruggen Syndrome	Thrombocytopenia, Cryptorchidism	ORPHA:1237
Xeroderma Pigmentosum, Complementation Group E	Conjunctivitis, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Keratitis, P...	OMIM:278740
Acromelic Frontonasal Dysplasia	Preaxial foot polydactyly, Patellar hypoplasia, Aplasia/Hypoplasia of the tibia, Talipes equinovarus	ORPHA:1827
Xeroderma Pigmentosum, Complementation Group C	Conjunctivitis, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell carcinoma, Cut...	OMIM:278720
Holocarboxylase Synthetase Deficiency	Skin rash, Thrombocytopenia, Hyperammonemia	OMIM:253270
Von Willebrand Disease, Type 3	Thrombocytopenia, Impaired platelet aggregation	OMIM:277480
Hydrolethalus Syndrome 1	Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Proximal tibial hypoplasia, Dupl...	OMIM:236680
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Congenital thrombocytopenia, Aplastic anemia	OMIM:605432
Retinitis Pigmentosa 60	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ...	OMIM:613983
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Short phalanx of finger, Hypoplastic iliac wing, Metaphyseal irregularity, Short ribs, Foot polyd...	OMIM:208500
Roberts Syndrome	Severe intrauterine growth retardation, Midface capillary hemangioma, Cataract, Microphthalmia, C...	ORPHA:3103
Ivic Syndrome	Severe short stature, Thrombocytopenia, Leukocytosis	ORPHA:2307
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Oculocutaneous Albinism Type 1A	Squamous cell carcinoma of the skin, Ocular albinism, Iris hypopigmentation, Basal cell carcinoma...	ORPHA:79431
Leber Optic Atrophy	Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy	OMIM:535000
Lmna-Related Cardiocutaneous Progeria Syndrome	Squamous cell carcinoma of the skin, Papillary renal cell carcinoma, Basal cell carcinoma, Abnorm...	ORPHA:363618
Osteopetrosis, Autosomal Recessive 3	Anemia, Short stature, Extramedullary hematopoiesis, Hepatosplenomegaly, Visual loss, Visual impa...	OMIM:259730
Familial Multinodular Goiter	Pilomatrixoma, Pleuropulmonary blastoma, Cerebellar medulloblastoma, Colorectal polyposis, Alveol...	ORPHA:276399
Pontocerebellar Hypoplasia Type 7	Ambiguous genitalia, Absent penis, Microphallus, Aplasia of the uterus, Gonadal dysgenesis, Abnor...	ORPHA:284339
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume, Cryptorchidism	OMIM:616737
Townes-Brocks Syndrome 2	Rectovaginal fistula, Hypospadias, Bifid uterus	OMIM:617466
Onychotrichodysplasia And Neutropenia	Chronic neutropenia, Lymphocytosis, Neutropenia	OMIM:258360
Oculocutaneous Albinism Type 2	Squamous cell carcinoma of the skin, Iris transillumination defect, Reduced visual acuity, Iris h...	ORPHA:79432
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Humeroradial synostosis, Aplasia/hypoplasia of the femur, Hip dislocation, Phocomelia, Aplasia/Hy...	OMIM:276820
Malt Lymphoma	Anemia, Lymphadenopathy, Mediastinal lymphadenopathy, Visual impairment, Posterior uveitis, Recur...	ORPHA:52417
Mayer-Rokitansky-Küster-Hauser Syndrome	Aplasia of the uterus, Hypoplasia of the vagina	ORPHA:3109
Hereditary Pulmonary Alveolar Proteinosis	Elevated carcinoembryonic antigen level, Abnormal circulating protein concentration, Crazy paving...	ORPHA:264675
Oculocutaneous Albinism	Squamous cell carcinoma of the skin, Ocular albinism, Reduced visual acuity, Iris hypopigmentatio...	ORPHA:55
Wiedemann-Rautenstrauch Syndrome	Hypoplasia of the thymus, Increased serum testosterone level, Short stature, Small for gestationa...	OMIM:264090
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Abnormality of the lymphatic system, Total anomalous pulmonary venous return, Thrombocytopenia, R...	ORPHA:487796
Lethal Omphalocele-Cleft Palate Syndrome	Bifid uterus	ORPHA:2736
Bardet-Biedl Syndrome 20	Rod-cone dystrophy, Retinal vascular tortuosity, Bilateral cryptorchidism, Male hypogonadism, Pap...	OMIM:619471
Campomelic Dysplasia	Short phalanx of finger, Hallux valgus, Micrognathia, Hip dislocation, Metatarsus adductus, Dislo...	OMIM:114290
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Bifid uterus, Abnormal reproductive system morphology, Supernumerary nipple	ORPHA:1521
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Absent external genitalia, Aplasia of the vagina, Aplasia of the uterus	OMIM:271520
Meckel Syndrome 14	Aplasia of the uterus, Ambiguous genitalia	OMIM:619879
Juvenile Polyposis Syndrome	Juvenile colonic polyposis, Hepatic arteriovenous malformation, Brain abscess, Neoplasm of the ga...	ORPHA:2929
Ivic Syndrome	Thrombocytopenia, Leukocytosis	OMIM:147750
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Desquamative interstitial pneumonitis, Interlobular sept...	OMIM:265120
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Diplopia, Squamous cell carcinoma of the skin, Short stature, Skin rash, Basal cell carcinoma, Me...	ORPHA:220295
Noonan Syndrome 1	Hypogonadism, Short stature, Hypospadias, Male infertility, Cryptorchidism, Failure to thrive in ...	OMIM:163950
Ciliary Dyskinesia, Primary, 19	Absent inner and outer dynein arms, Male infertility	OMIM:614935
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Cystinosis, Nephropathic	Hypohidrosis, Weight loss, Short stature, Male hypogonadism, Diabetes mellitus, Delayed puberty, ...	OMIM:219800
Thrombocytopenia 1	Eczema, Increased circulating IgE level, Increased circulating IgA level, Congenital thrombocytop...	OMIM:313900
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia, Blindness	ORPHA:853
Xeroderma Pigmentosum, Complementation Group A	Conjunctivitis, Keratitis, Melanoma, Squamous cell carcinoma of the skin	OMIM:278700
Exercise-Induced Malignant Hyperthermia	Hyperphosphatemia, Hepatic failure, Hypocalcemia, Hyperkalemia, Elevated circulating creatine kin...	ORPHA:466650
Fanconi Anemia, Complementation Group L	Growth delay, Aplasia of the uterus, Micropenis, Intrauterine growth retardation	OMIM:614083
Wolf-Hirschhorn Syndrome	Precocious puberty, Short stature, Small for gestational age, Failure to thrive, Hypospadias, Apl...	OMIM:194190
Knobloch Syndrome 2	Abnormal pulmonary interstitial morphology, Vitreous floaters, Anterior cortical cataract, Recurr...	OMIM:618458
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Aplasia of the uterus, Aplasia of the vagina, Absent speech	ORPHA:457284
Amoebic Keratitis	Abnormal anterior chamber morphology, Scleritis, Abnormal corneal epithelium morphology, Corneal ...	ORPHA:67043
Osteogenesis Imperfecta	Rhizomelia, Short stature, Visceral angiomatosis, Pulmonary hypoplasia, Corneal opacity, Growth d...	ORPHA:666
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility	Male infertility	OMIM:619607
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Leukocoria, Posterior synechiae of the anterior chamber, Ultra-low vision with no light perceptio...	OMIM:221900
Cancer-Associated Retinopathy	Retinal pigment epithelial atrophy, Foveal hyporeflective spaces on macular OCT, Pancreatic adeno...	ORPHA:71505
Otopalatodigital Syndrome, Type Ii	Toe syndactyly, Micrognathia, Broad hallux, Short hallux, Postaxial hand polydactyly, Rocker bott...	OMIM:304120
Persistent Hyperplastic Primary Vitreous	Amblyopia, Blindness, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow anter...	ORPHA:91495
Pagod Syndrome	Ambiguous genitalia, Optic atrophy, Abnormal testis morphology, Agonadism, Abnormality of the ute...	ORPHA:991
Coffin-Siris Syndrome 1	Aggressive behavior, Short stature, Delayed speech and language development, Aplasia of the uteru...	OMIM:135900
Pseudoleprechaunism Syndrome, Patterson Type	Diabetes mellitus, Increased circulating androgen concentration, Intrauterine growth retardation,...	ORPHA:2976
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Ehlers-Danlos Syndrome, Vascular Type	Anemia, Pneumothorax, Pulmonary bleb, Nodular pattern on pulmonary HRCT, Repeated pneumothoraces,...	OMIM:130050
Townes-Brocks Syndrome 1	Hypothyroidism, Bifid scrotum, Small for gestational age, Rectoperineal fistula, Bifid uterus, Hy...	OMIM:107480
Autoimmune Pulmonary Alveolar Proteinosis	Increased circulating lactate dehydrogenase concentration, Abnormal circulating protein concentra...	ORPHA:747
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Genu varum, Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, ...	ORPHA:2753
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Disproportionate short-limb short stature, Mild short stature, Rhizomelia, Hyposegmentation of ne...	OMIM:618019
Temtamy Preaxial Brachydactyly Syndrome	Abnormal optic disc morphology, Optic atrophy	ORPHA:363417
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Porokeratosis	Squamous cell carcinoma of the skin	ORPHA:79358
Cranioectodermal Dysplasia 1	Short toe, Rhizomelia, Short ribs, Clinodactyly, Short humerus, Radial deviation of finger, Flatt...	OMIM:218330
7Q11.23 Microduplication Syndrome	Abnormal optic disc morphology, Hypospadias, Aplasia/Hypoplasia of the fallopian tube, Cryptorchi...	ORPHA:96121
Charge Syndrome	Hand monodactyly, Micrognathia, Absent tibia, Hand polydactyly, Bifid femur, Down-sloping shoulde...	OMIM:214800
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Retinal dystrophy, Abnormal optic disc morphology, Supernumerary nipple, Hypospadias, Subretinal ...	ORPHA:397715
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Pilomatrixoma, Recurrent respiratory infections, Short stature, Spinal cord tumor, Meningioma, Ca...	ORPHA:353281
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Pilomatrixoma	Pilomatrixoma, Neoplasm of head and neck	ORPHA:91414
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Pilomatrixoma, Recurrent respiratory infections, Short stature, Corneal scarring, Hydrocele testi...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Pilomatrixoma, Recurrent respiratory infections, Short stature, Corneal scarring, Hydrocele testi...	ORPHA:353277
Okamoto Syndrome	Delayed speech and language development, Bifid uterus, Severe postnatal growth retardation	ORPHA:2729
Neu-Laxova Syndrome 1	Bifid uterus, Intrauterine growth retardation, Cryptorchidism	OMIM:256520
Goodpasture Syndrome	Bloody bronchoalveolar lavage fluid, Anemia, Nodular pattern on pulmonary HRCT, Pulmonary hemorrh...	OMIM:233450
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Abnormal pulmonary interstitial morphology, Recurrent respiratory infections, Hypoalbuminemia	OMIM:614748
Alobar Holoprosencephaly	Hydrocephalus, Growth delay, Short stature, Neural tube defect	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Hydrocephalus, Growth delay, Short stature, Neural tube defect	ORPHA:93926
Lobar Holoprosencephaly	Hydrocephalus, Growth delay, Short stature, Neural tube defect	ORPHA:93924
Semilobar Holoprosencephaly	Hydrocephalus, Growth delay, Short stature, Neural tube defect	ORPHA:220386
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Retinal coloboma, Abnormal optic disc morphology, Optic nerve hypoplasia, Hypospadias, Facial palsy	ORPHA:508498
Loeys-Dietz Syndrome	Uterine rupture	ORPHA:60030
Pallister-Killian Syndrome	Hypohidrosis, Mesomelic/rhizomelic limb shortening, Rhizomelia, Anhidrosis, Labial hypoplasia, Ap...	OMIM:601803
Cystic Fibrosis	Exocrine pancreatic insufficiency, Failure to thrive, Male infertility, Pancreatitis	OMIM:219700
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Schinzel-Giedion Syndrome	Umbilical hernia, Neural tube defect	ORPHA:798
Vascular Ehlers-Danlos Syndrome	Short stature, Uterine rupture, Hypospadias, Cryptorchidism, Cystocele, Uterine prolapse	ORPHA:286

Histopathology

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

Phenotype	Allele	Zygosity	Life Stage
Ovary - MPATH pathological process term follicular atresia	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult
Testis - MPATH pathological process term spermatogenesis defect	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult
Testis - MPATH pathological process term dysplasia	Egr1^{tm1b(NCOM)Mfgc}	HOM	Early adult

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Egr1.

No publications found that use IMPC mice or data for Egr1.

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MGI Allele	Allele Type	Produced
Egr1^{tm214497(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Egr1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Egr1^{tm1b(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Mice, Tissue
Egr1^{tm1a(NCOM)Mfgc}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells

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Gene: Egr1 MGI:95295

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Histopathology

Gross Morphology Embryo E9.5

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Human diseases caused by Egr1 mutations

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IMPC related publications

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Access Data Release 19.0 Data