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Gene: Esr2 MGI:109392

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Gene Summary

Name:
estrogen receptor 2 (beta)
Synonyms:
ERbeta,  Estrb,  oestrogen receptor beta,  ER beta

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
decreased lean body mass Esr2em1(IMPC)Marc HOM Early adult 3.31×10-11
decreased leukocyte cell number Esr2em1(IMPC)Marc HOM Early adult 2.14×10-05
thin ventricular wall Esr2em1(IMPC)Marc HOM Early adult 1.87×10-05
decreased bone mineral density Esr2em1(IMPC)Marc HOM Early adult 3.78×10-07
decreased lymphocyte cell number Esr2em1(IMPC)Marc HOM Early adult 2.01×10-06
increased circulating serum albumin level Esr2em1(IMPC)Marc HOM   Early adult 2.99×10-05
increased total body fat amount Esr2em1(IMPC)Marc HOM Early adult 1.33×10-11
decreased bone mineral content Esr2em1(IMPC)Marc HOM Early adult 3.41×10-08

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Esr2 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.

The table below shows human diseases associated to Esr2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187

The table below shows human diseases predicted to be associated to Esr2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Female Infertility Due To Oocyte Meiotic Arrest
Abnormal meiosis, Female infertility, Oocyte arrest at metaphase I ORPHA:488191
Oocyte/Zygote/Embryo Maturation Arrest 9
Abnormality of the menstrual cycle, Oocyte arrest at metaphase I, Female infertility OMIM:619011
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 14
Female infertility, Oocyte maturation arrest OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Female infertility, Lack of oocyte pronucleus formation OMIM:617996
Oocyte/Zygote/Embryo Maturation Arrest 21
Female infertility OMIM:620610
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Premature Ovarian Failure 19
Irregular menstruation, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea OMIM:619245
Endometriosis, Susceptibility To, 1
Dysmenorrhea, Decreased fertility, Endometriosis OMIM:131200
Hyperprolactinemia
Menorrhagia, Oligomenorrhea, Female infertility, Increased circulating prolactin concentration OMIM:615555
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Oocyte/Zygote/Embryo Maturation Arrest 8
Abnormality of the menstrual cycle, Female infertility OMIM:619009
Spermatogenic Failure 32
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:618115
Spermatogenic Failure 71
Sertoli cell-only phenotype, Non-obstructive azoospermia, Male infertility OMIM:619831
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Spermatogenic Failure 20
Male infertility, Short sperm flagella, Absent sperm flagella, Coiled sperm flagella OMIM:617593
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Female infertility, Primary amenorrhea OMIM:300604
Spermatogenic Failure 35
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Male infe... OMIM:618341
Spermatogenic Failure 57
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility, Decreased testi... OMIM:619528
Spermatogenic Failure 17
Male infertility OMIM:617214
Premature Ovarian Failure 17
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Decreased circulating ... OMIM:619146
Oocyte/Zygote/Embryo Maturation Arrest 17
Amenorrhea, Female infertility OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Amenorrhea, Female infertility OMIM:620383
Spermatogenic Failure 63
Decreased testicular size, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:619689
Spermatogenic Failure 50
Spermatogenesis maturation arrest, Decreased testicular size, Azoospermia, Male infertility OMIM:619145
Spermatogenic Failure 25
Cryptozoospermia, Non-obstructive azoospermia, Decreased testicular size, Spermatocyte maturation... OMIM:617960
Partial Chromosome Y Deletion
Decreased testicular size, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal... ORPHA:1646
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:619672
Spermatogenic Failure 88
Non-obstructive azoospermia, Male infertility, Spermatocyte maturation arrest OMIM:620547
Spermatogenic Failure 83
Altered location of the longitudinal column in the fibrous sheath, Reduced progressive sperm moti... OMIM:620354
Asherman Syndrome
Abnormality of the menstrual cycle, Metrorrhagia, Dysmenorrhea, Decreased fertility in females, O... ORPHA:137686
Spermatogenic Failure 59
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619645
Spermatogenic Failure 60
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619646
Spermatogenic Failure 74
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619937
Spermatogenic Failure 73
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:619878
Spermatogenic Failure 43
Absent sperm axoneme central pair complex, Absent sperm flagella, Reduced sperm motility, Male in... OMIM:618751
Spermatogenic Failure 49
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619144
Spermatogenic Failure 45
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:619094
Spermatogenic Failure 19
Short sperm flagella, Absent sperm flagella, Reduced sperm motility, Male infertility, Coiled spe... OMIM:617592
Spermatogenic Failure 82
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Male infertility... OMIM:620353
Premature Ovarian Failure 13
Female infertility, Amenorrhea, Elevated circulating follicle stimulating hormone level, Oligomen... OMIM:617442
Spermatogenic Failure 46
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:619095
Spermatogenic Failure 33
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618152
Spermatogenic Failure 37
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:618429
Spermatogenic Failure 18
Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagella, Reduced sperm motilit... OMIM:617576
Spermatogenic Failure 27
Absent sperm axoneme central pair complex, Short sperm flagella, Absent sperm flagella, Reduced s... OMIM:617965
Spermatogenic Failure 72
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Reduced progressive spe... OMIM:619867
Spermatogenic Failure 34
Absent sperm axoneme central pair complex, Irregularly shaped sperm tail, Short sperm flagella, A... OMIM:618153
Spermatogenic Failure 30
Cryptozoospermia, Azoospermia, Cryptorchidism, Spermatogenesis maturation arrest, Male infertility OMIM:618110
Spermatogenic Failure, X-Linked, 5
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Absent s... OMIM:301099
Spermatogenic Failure 78
Microcephalic sperm head, Tapered sperm head, Male infertility OMIM:620170
Premature Ovarian Failure 14
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618014
Spermatogenic Failure 1
Cryptozoospermia, Oligozoospermia, Male infertility OMIM:258150
Spermatogenic Failure 53
Tapered sperm head, Male infertility OMIM:619258
Spermatogenic Failure 87
Ruffled acrosome, Male infertility OMIM:620500
Spermatogenic Failure 31
Acephalic spermatozoa, Male infertility OMIM:618112
Spermatogenic Failure 26
Acephalic spermatozoa, Male infertility OMIM:617961
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Oligozoospermia, Coiled sperm flagella OMIM:620196
Spermatogenic Failure 7
Immotile sperm, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:612997
Premature Ovarian Failure 22
Premature ovarian insufficiency, Female infertility, Elevated circulating follicle stimulating ho... OMIM:620548
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:614822
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Infertility, Amenorrhea, Oligomenorrhea, Female hypogonadism, Menorrhagia ORPHA:397685
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Oligozoospermia, Reduced sperm motility OMIM:615081
Spermatogenic Failure 47
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility OMIM:619102
Premature Ovarian Failure 6
Elevated circulating luteinizing hormone level, Female infertility, Streak ovary, Elevated circul... OMIM:612310
Spermatogenic Failure 5
Multiflagellar spermatozoa, Macrozoospermia, Male infertility OMIM:243060
Spermatogenic Failure 29
Non-obstructive azoospermia, Immotile sperm, Male infertility OMIM:618091
Spermatogenic Failure 48
Spermatogenesis maturation arrest, Azoospermia, Oligozoospermia, Male infertility OMIM:619108
Spermatogenic Failure 40
Short sperm flagella, Immotile sperm, Absent sperm flagella, Oligozoospermia, Male infertility, C... OMIM:618664
Spermatogenic Failure 21
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:617187
Isochromosomy Yp
Decreased testicular size, Azoospermia, Ambiguous genitalia, Male infertility ORPHA:98797
Spermatogenic Failure 80
Reduced progressive sperm motility, Short sperm flagella, Absent sperm flagella, Oligozoospermia,... OMIM:620222
Spermatogenic Failure 76
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:620084
Precocious Puberty, Central, 1
Isosexual precocious puberty, Elevated circulating luteinizing hormone level, Hypothyroidism, Ele... OMIM:176400
Spermatogenic Failure 58
Irregularly shaped sperm tail, Reduced progressive sperm motility, Short sperm flagella, Immotile... OMIM:619585
Spermatogenic Failure 22
Cryptozoospermia, Non-obstructive azoospermia, Male infertility OMIM:617706
Spermatogenic Failure, X-Linked, 3
Reduced sperm motility, Irregularly shaped sperm tail, Short sperm flagella, Absent sperm flagell... OMIM:301059
Premature Ovarian Failure 2A
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300511
Spermatogenic Failure 56
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:619515
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Immotile sperm, Male infertility OMIM:608653
Spermatogenic Failure 52
Azoospermia, Male infertility OMIM:619202
Spermatogenic Failure 23
Azoospermia, Male infertility OMIM:617707
Spermatogenic Failure 4
Azoospermia, Male infertility OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Azoospermia, Male infertility OMIM:415000
Spermatogenic Failure 84
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620409
Spermatogenic Failure 65
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Abnorm... OMIM:619712
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
Spermatogenic Failure 41
Tapered sperm head, Short sperm flagella, Immotile sperm, Oligozoospermia, Male infertility OMIM:618670
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism OMIM:261550
Male Infertility Due To Acephalic Spermatozoa
Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Oligozoospermia, Reduced sperm motili... ORPHA:529970
Spermatogenic Failure 42
Microcephalic sperm head, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Reduce... OMIM:618745
Spermatogenic Failure 39
Reduced sperm motility, Tapered sperm head, Short sperm flagella, Absent sperm flagella, Oligozoo... OMIM:618643
Plasminogen Activator Inhibitor-1 Deficiency
Menorrhagia OMIM:613329
Spermatogenic Failure, X-Linked, 4
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:301077
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Spermatogenic Failure 12
Azoospermia, Abnormal male germ cell morphology OMIM:615413
Premature Ovarian Failure 20
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:619938
Spermatogenic Failure 54
Abnormal sperm axoneme morphology, Cryptozoospermia, Tapered sperm head, Short sperm flagella, Ol... OMIM:619379
Spermatogenic Failure 70
Azoospermia, Reduced sperm motility, Oligozoospermia, Male infertility OMIM:619828
46,Xx Testicular Difference Of Sex Development
Decreased testicular size, Male hypogonadism, Ambiguous genitalia, Polycystic ovaries ORPHA:393
Spermatogenic Failure 28
Decreased serum testosterone concentration, Decreased testicular size, Elevated circulating lutei... OMIM:618086
Spermatogenic Failure 86
Acephalic spermatozoa, Acrosomal hypoplasia, Abnormal sperm head morphology, Ruffled acrosome, Ma... OMIM:620499
Systemic Mastocytosis With Associated Hematologic Neoplasm
Chronic lymphatic leukemia, Acute myeloid leukemia, Hematological neoplasm, Neutrophilia, Hepatom... ORPHA:98849
Isochromosomy Yq
Varicocele, Male infertility, Decreased testicular size, Azoospermia, Ambiguous genitalia, Gonada... ORPHA:98798
Ring Chromosome Y Syndrome
Male hypogonadism, Female infertility, Abnormality of the male genitalia, Bifid scrotum, Gonadal ... ORPHA:261529
Ovarian Dysgenesis 7
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Delayed puberty, Eleva... OMIM:618117
Deafness-Infertility Syndrome
Abnormal sperm head morphology, Reduced sperm motility, Abnormal spermatogenesis, Male infertilit... OMIM:611102
Deafness-Infertility Syndrome
Azoospermia, Male infertility ORPHA:94064
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal morphology of female internal genit... ORPHA:2141
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Microphallus, Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary a... OMIM:614840
Spermatogenic Failure, X-Linked, 6
Absent sperm axoneme central pair complex, Abnormal male external genitalia morphology, Microceph... OMIM:301101
Invasive Mole
Menometrorrhagia ORPHA:99925
Premature Ovarian Failure 5
Reduced antral follicle count, Streak ovary, Hypoplasia of the ovary, Primary amenorrhea, Prematu... OMIM:611548
Immunodeficiency 98 With Autoinflammation, X-Linked
Bone marrow hypocellularity, Type I diabetes mellitus, Hemophagocytosis, Agranulocytosis, Recurre... OMIM:301078
Ovarian Dysgenesis 3
Elevated circulating luteinizing hormone level, Female infertility, Aplasia of the ovary, Elevate... OMIM:614324
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Polycythemia Vera
Epistaxis, Acute leukemia, Gastrointestinal hemorrhage, Pulmonary embolism, Polycythemia, Pruritu... ORPHA:729
Idiopathic Hypereosinophilic Syndrome
Inflammatory abnormality of the skin, Hepatosplenomegaly, Chronic hepatitis, Erythroderma, Neutro... ORPHA:3260
Ovarian Dysgenesis 5
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:617690
Perrault Syndrome 6
Irregular menstruation, Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypopl... OMIM:617565
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Acromesomelic Dysplasia 2A
Acromesomelia, Short tibia, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibula... OMIM:200700
Ras-Associated Autoimmune Leukoproliferative Disorder
Lymphoma, Lymphoproliferative disorder, Pancytopenia, Splenomegaly, Follicular hyperplasia, Hepat... OMIM:614470
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Premature Ovarian Failure 3
Premature ovarian insufficiency, Hypoplasia of the uterus, Secondary amenorrhea OMIM:608996
Spermatogenic Failure 81
Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Male infertility OMIM:620277
Premature Ovarian Failure 9
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:615724
Mucopolysaccharidosis, Type Iiib
Recurrent upper respiratory tract infections, Coarse hair, Diarrhea, Hearing impairment, Heparan ... OMIM:252920
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Premature Ovarian Failure 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Elevated... OMIM:615723
Spermatogenic Failure 44
Decreased testicular size, Acephalic spermatozoa, Male infertility, Reduced sperm motility OMIM:619044
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Ovarian Dysgenesis 10
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Streak ovary, Hypoplas... OMIM:619834
Acute Panmyelosis With Myelofibrosis
Bone marrow hypocellularity, Acute myelomonocytic leukemia, Abnormality of bone marrow stromal ce... ORPHA:86843
Polycystic Ovary Syndrome 1
Enlarged polycystic ovaries, Amenorrhea, Oligomenorrhea OMIM:184700
Osebold-Remondini Syndrome
Mesomelia, Short toe, Short tibia, Carpal synostosis, Type A brachydactyly, Radial deviation of f... OMIM:112910
Tafro Syndrome
Ascites, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Pleural effusion, Renal insufficiency, H... ORPHA:457077
Leri-Weill Dyschondrosteosis
Increased carrying angle, Abnormal femoral neck morphology, Radial bowing, Short tibia, Short toe... OMIM:127300
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Primary amenorrhea, Hypergonadotropic hypogonadism, Gonadal dysgenesis OMIM:607080
Acromesomelic Dysplasia 2C
Shortening of all middle phalanges of the fingers, Hip dislocation, Short tibia, Radial bowing, E... OMIM:201250
Wiskott-Aldrich Syndrome
Nephropathy, Abnormal eosinophil morphology, Acute leukemia, Microcytic anemia, Lymphopenia, Arrh... ORPHA:906
Spermatogenic Failure, X-Linked, 2
Spermatogenesis maturation arrest, Azoospermia, Testicular atrophy, Male infertility OMIM:309120
Angioosteohypotrophic Syndrome
Abnormal trabecular bone morphology, Upper limb undergrowth, Aplasia/hypoplasia involving bones o... ORPHA:75508
Ovarian Dysgenesis 9
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Hypoplasia of the ovar... OMIM:619665
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Nephr... OMIM:619644
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Placental Site Trophoblastic Tumor
Amenorrhea, Metrorrhagia ORPHA:99928
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Familial Thrombocytosis
Chronic myelogenous leukemia, Vertigo, Transient ischemic attack, Cerebral ischemia, Splenomegaly... ORPHA:71493
Ovarian Dysgenesis 8
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Elevated circulating f... OMIM:618187
Acromesomelic Dysplasia 3
Elevated circulating luteinizing hormone level, Carpal synostosis, Fibular aplasia, Talipes equin... OMIM:609441
Mucopolysaccharidosis Type 3
Hearing impairment, Aspiration pneumonia, Genu valgum, Urinary glycosaminoglycan excretion, Abnor... ORPHA:581
Mietens-Weber Syndrome
Elbow flexion contracture, Dislocated radial head, Forearm undergrowth, Absent proximal radial ep... OMIM:249600
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Ovarian Dysgenesis 2
Streak ovary, Primary amenorrhea, Premature ovarian insufficiency, Hypoplasia of the uterus, Seco... OMIM:300510
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Premature Ovarian Failure 10
Elevated circulating luteinizing hormone level, Decreased testicular size, Hypothyroidism, Elevat... OMIM:612885
Igg4-Related Kidney Disease
Chronic kidney disease, Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Urethriti... ORPHA:449395
Mucopolysaccharidosis, Type Iiic
Recurrent upper respiratory tract infections, Coarse hair, Diarrhea, Hearing impairment, Hypertri... OMIM:252930
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Joint stiffness... ORPHA:2249
Mucopolysaccharidosis, Type Ii
Recurrent pneumonia, Diarrhea, Hearing impairment, Intestinal pseudo-obstruction, Hypertrichosis,... OMIM:309900
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Recurrent upper respiratory tract infections, Hearing impairment, Failure t... ORPHA:583
Infantile Sialic Acid Storage Disease
Fair hair, Failure to thrive, Congestive heart failure, Ascites, Splenomegaly, Cardiomegaly, Hepa... OMIM:269920
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Acrodysostosis
Abnormal female external genitalia morphology, Cryptorchidism, Bowing of the long bones, Abnormal... ORPHA:950
Spermatogenic Failure, X-Linked, 7
Excess residual spermatozoal cytoplasm, Multiflagellar spermatozoa, Globozoospermia, Reduced sper... OMIM:301106
Cartilage-Hair Hypoplasia
Small hand, Bowing of the long bones, Cognitive impairment, Diaphyseal undertubulation, Metaphyse... ORPHA:175
Perrault Syndrome 2
Amenorrhea, Streak ovary OMIM:614926
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Arthralgia of the hip, Broad hallux, Irreg... ORPHA:1856
Spermatogenic Failure 85
Acephalic spermatozoa, Reduced progressive sperm motility, Globozoospermia, Male infertility, Coi... OMIM:620490
Gray Platelet Syndrome
Epistaxis, Abnormal number of alpha granules, Splenomegaly, Thrombocytopenia, Myelofibrosis, Meno... OMIM:139090
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Premature Ovarian Failure 18
Elevated circulating luteinizing hormone level, Hypoplasia of the ovary, Elevated circulating fol... OMIM:619203
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Azoospermia, Obstructive, With Nephrolithiasis
Obstructive azoospermia, Male infertility, Spermatocele OMIM:301060
Ovarian Dysgenesis 6
Hypoplasia of the uterus, Hypergonadotropic hypogonadism, Primary amenorrhea OMIM:618078
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Sandal gap, Short thumb, Radial club hand, Bila... ORPHA:1972
Oculoskeletodental Syndrome
Protein-losing enteropathy, Hearing impairment, Renal agenesis, Elbow flexion contracture, Crypto... OMIM:618440
Spermatogenic Failure 6
Decreased acrosin in sperm head, Globozoospermia, Male infertility OMIM:102530
Myelofibrosis
Hemophagocytosis, Extramedullary hematopoiesis, Splenomegaly, Hepatomegaly, Myelofibrosis, Myelop... OMIM:254450
Immunodeficiency 36 With Lymphoproliferation
Recurrent upper respiratory tract infections, Lymphopenia, Splenomegaly, Chronic lymphatic leukem... OMIM:616005
46,Xy Complete Gonadal Dysgenesis
Hypogonadotropic hypogonadism, Male pseudohermaphroditism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Hurler Syndrome
Hearing impairment, Recurrent otitis media, Hepatosplenomegaly, Urinary glycosaminoglycan excreti... OMIM:607014
Poems Syndrome
Increased circulating prolactin concentration, Sclerosis of hand bone, Sclerosis of foot bone, He... ORPHA:2905
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Clubbing of toes, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal large intestine ... ORPHA:2198
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Mucopolysaccharidosis, Type Vii
Hearing impairment, Recurrent otitis media, Genu valgum, Urinary glycosaminoglycan excretion, Sen... OMIM:253220
46,Xy Sex Reversal 11
Elevated circulating luteinizing hormone level, Vanishing testis, Decreased serum testosterone co... OMIM:273250
Hurler Syndrome
Hearing impairment, Endocardial fibroelastosis, Generalized hirsutism, Hepatomegaly, Mucopolysacc... ORPHA:93473
Neurofibromatosis Type 1
Neoplasm of the skin, Hearing impairment, Cryptorchidism, Multiple lipomas, Leukemia, Sarcoma, Pr... ORPHA:636
Ovarian Dysgenesis 1
Increased circulating gonadotropin level, Primary amenorrhea, Gonadal dysgenesis OMIM:233300
Acquired Idiopathic Sideroblastic Anemia
Hypochromic anemia, Pancytopenia, Anemia of inadequate production, Acute myeloid leukemia, Neutro... ORPHA:75564
Premature Ovarian Failure 15
Irregular menstruation, Oligomenorrhea, Elevated circulating follicle stimulating hormone level, ... OMIM:618096
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:146110
Mucopolysaccharidosis Type 1
Optic atrophy, Abnormal epiphysis morphology, Hearing impairment, Abnormal tendon morphology, Con... ORPHA:579
Ivic Syndrome
Carpal synostosis, Hypoplasia of deltoid muscle, Limited elbow movement, Radioulnar synostosis, C... OMIM:147750
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Coarse hair, Diarrhea, Hearing impairment, Heparan ... OMIM:252900
Double Uterus-Hemivagina-Renal Agenesis Syndrome
Hydrocolpos, Uterus didelphys, Metrorrhagia, Dysmenorrhea, Dyspareunia, Abnormal uterine cervix m... ORPHA:3411
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Recurrent otitis media, Mitral regurgi... OMIM:252500
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Flat acetabular roof, Short distal phalanx of the 5t... OMIM:271700
Autoimmune Lymphoproliferative Syndrome, Type Iii
Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ... OMIM:615559
Castleman Disease
Restrictive cardiomyopathy, Ureteral obstruction, Renal insufficiency, Follicular hyperplasia, He... ORPHA:160
Hemochromatosis, Type 1
Alopecia, Impotence, Cardiomyopathy, Congestive heart failure, Ascites, Azoospermia, Glucose into... OMIM:235200
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Hypoalbuminemia, Craniosynostosis, Obesity, Cardiomegaly ORPHA:88643
Premature Ovarian Failure 7
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612964
Hepatic Adenomas, Familial
Polycystic ovaries OMIM:142330
Malakoplakia
Inflammatory abnormality of the skin, Diarrhea, Urinary bladder inflammation, Abnormality of the ... ORPHA:556
Perrault Syndrome 3
Elevated circulating luteinizing hormone level, Streak ovary, Elevated circulating follicle stimu... OMIM:614129
Sweet Syndrome
Dilated cardiomyopathy, Acne inversa, Neoplasm, Leukocytosis, Predominantly dermal neutrophilic i... ORPHA:3243
Ghosal Hematodiaphyseal Dysplasia
Bone marrow hypocellularity, Hyperostosis cranialis interna, Leukopenia, Thrombocytopenia, Myelof... OMIM:231095
Gordon Holmes Syndrome
Hypogonadotropic hypogonadism, Oligomenorrhea, Secondary amenorrhea, Primary amenorrhea OMIM:212840
Premature Ovarian Failure 11
Oligomenorrhea, Elevated circulating follicle stimulating hormone level, Secondary amenorrhea OMIM:616946
Gonadoblastoma
Ovarian gonadoblastoma, Abnormality of the ovary, Gonadal calcification, Ambiguous genitalia, Gon... ORPHA:206484
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypogonadism, Decreased testicular size, Abnormality of the ovary ORPHA:1875
Mirage Syndrome
Hypospadias, Microphallus, Aspiration pneumonia, Radial club hand, Lymphopenia, Leukopenia, Decre... OMIM:617053
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Hemophagocytosis, Colon cancer, Hepatosplenomegaly, Pancytopenia, Hodgkin lymphoma, Acute myeloid... ORPHA:158057
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Autosomal Dominant Severe Congenital Neutropenia
Pneumonia, Osteopenia, Aplastic anemia, Lymphopenia, Myelodysplasia, Recurrent skin infections, E... ORPHA:486
Spermatogenic Failure 38
Reduced sperm motility, Tapered sperm head, Abnormal sperm head morphology, Absent sperm flagella... OMIM:618433
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Gestational Choriocarcinoma
Metrorrhagia ORPHA:99926
Ciliary Dyskinesia, Primary, 50
Reduced progressive sperm motility, Short sperm flagella, Reduced sperm motility, Male infertilit... OMIM:620356
Aromatase Deficiency
Female pseudohermaphroditism, Hypergonadotropic hypogonadism, Ovarian cyst, Primary amenorrhea OMIM:613546
Diamond-Blackfan Anemia 11
Finger aplasia, Absent thumb, Unilateral radial aplasia, Anemia of inadequate production, Radioul... OMIM:614900
Thrombocytopenia, Anemia, And Myelofibrosis
Splenomegaly, Thrombocytopenia, Anisopoikilocytosis, Anemia, Myelofibrosis OMIM:617441
Spermatogenic Failure 8
Cryptozoospermia, Azoospermia, Oligozoospermia OMIM:613957
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Cryptorchidism, Fibular hypoplasia, ... OMIM:612447
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Dislocated radial head, Micrognathia, Scapul... OMIM:602471
Aggressive Systemic Mastocytosis
Hepatosplenomegaly, Pancytopenia, Hypersplenism, Hematological neoplasm, Neutropenia, Leukemia, G... ORPHA:98850
Combined Oxidative Phosphorylation Deficiency 10
Optic atrophy, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, Ascites, Oligohydram... OMIM:614702
Premature Ovarian Failure 16
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:618723
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Bone marrow hypocellularity, Eczematoid dermatitis, Lymphoma, Leukopenia, Acute myeloid leukemia,... OMIM:616871
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Decreased testicular size, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea OMIM:614858
Pheochromocytoma/Paraganglioma Syndrome 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Conductive hearing impairment... ORPHA:423461
Analbuminemia
Hypoalbuminemia, Increased LDL cholesterol concentration, Elevated circulating transferrin concen... OMIM:616000
Essential Thrombocythemia
Acute leukemia, Abnormal bone marrow cell morphology, Vertigo, Increased multinucleated megakaryo... ORPHA:3318
Congenital Toxoplasmosis
Diarrhea, Hearing impairment, Ascites, Failure to thrive in infancy, Cardiomegaly, Cognitive impa... ORPHA:858
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Mitral regurgitation, Myopat... OMIM:612541
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia, Cryptorchidism, H... ORPHA:2256
Neutropenia, Severe Congenital, 10, Autosomal Recessive
Bone marrow arrest at the promyelocytic stage, Anorectal abscess, Dysplastic granulopoesis, Monoc... OMIM:620534
Spermatogenic Failure 13
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615841
Autoimmune Hemolytic Anemia, Warm Type
Congestive heart failure, Abnormal urinary color, Splenomegaly, Autoimmune hemolytic anemia, Chro... ORPHA:90033
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Decreased fibular diameter, Ventricular septal defect, Micropeni... OMIM:616897
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:300068
Van Bogaert-Hozay Syndrome
Osteolytic defects of the phalanges of the hand, Micrognathia, Distal ulnar hypoplasia OMIM:277150
Multiple Sulfatase Deficiency
Optic atrophy, Broad thumb, Rapid neurologic deterioration, Coarse hair, Thick eyebrow, Splenomeg... ORPHA:585
Simple Cryoglobulinemia
Chronic lymphatic leukemia, Nephrotic syndrome, Multiple myeloma, Vasculitis, Gastrointestinal he... ORPHA:91139
Cortisone Reductase Deficiency 1
Precocious puberty, Infertility, Oligomenorrhea OMIM:604931
Mucopolysaccharidosis, Type Vi
Epiphyseal dysplasia, Hearing impairment, Hypoplastic iliac wing, Genu valgum, Mitral regurgitati... OMIM:253200
Hypereosinophilic Syndrome, Idiopathic
Restrictive cardiomyopathy, Splenomegaly, Eosinophilia, Hepatomegaly, Pruritus, Myeloproliferativ... OMIM:607685
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Acute monocytic leukemia, Congenital agranulocytosis, Thrombocytosis, Eosinophilia, Neutropenia, ... OMIM:202700
Fucosidosis
Hearing impairment, Decreased muscle mass, Failure to thrive, Abnormality of the gallbladder, Car... ORPHA:349
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Congestive heart failure, Ascites, Tall stature,... ORPHA:90308
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Cardiomy... OMIM:256550
Hypocomplementemic Urticarial Vasculitis
Diarrhea, Angioedema, Nausea and vomiting, Sensorineural hearing impairment, Hematuria, Inflammat... ORPHA:36412
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Elevated circulating luteinizing hormone level, Decrease... OMIM:229070
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Low-set ears, Diarrhea, Hearing impairment, Recurrent otitis media, Mitral ... OMIM:252940
Mucopolysaccharidosis, Type Iva
Constricted iliac wing, Recurrent pneumonia, Recurrent upper respiratory tract infections, Hearin... OMIM:253000
Junctional Epidermolysis Bullosa With Pyloric Atresia
Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Na... ORPHA:79403
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Constricted iliac wing, Recurrent upper respiratory tract infections, Hear... OMIM:253010
Mucopolysaccharidosis Type 7
Hepatitis, Lymphedema, Ascites, Abnormal hip bone morphology, Epiphyseal stippling, Abnormal pleu... ORPHA:584
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Recurrent pneumonia, Thrombocytosis, Leukocytosis, Recurrent sinusitis, B lymphocyt... OMIM:619281
Spermatogenic Failure 77
Azoospermia, Multiflagellar spermatozoa, Cryptorchidism, Elevated circulating follicle stimulatin... OMIM:620103
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Limited elbow moveme... ORPHA:3269
Premature Ovarian Failure 12
Primary amenorrhea OMIM:616947
Chronic Graft Versus Host Disease
Diarrhea, Xerostomia, Hematuria, Weight loss, Anorexia, Bronchiolitis obliterans, Abdominal pain,... ORPHA:99921
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Toe syndactyly, Hip contracture, Thickened ears, Abdominal pain, High palate, Large earlobe, Knee... OMIM:616809
Xp22.3 Microdeletion Syndrome
Hypogonadotropic hypogonadism, Decreased fertility, Secondary amenorrhea, Polycystic ovaries ORPHA:1643
Hurler-Scheie Syndrome
Aortic regurgitation, Recurrent respiratory infections, Camptodactyly of finger, Heparan sulfate ... OMIM:607015
Spermatogenic Failure 15
Spermatogenesis maturation arrest, Non-obstructive azoospermia, Male infertility OMIM:616950
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries, Amenorrhea, Oligomenorrhea, Menorrhagia ORPHA:2795
Mucopolysaccharidosis Type 4
Abnormal epiphysis morphology, Hearing impairment, Abnormal heart valve morphology, Genu valgum, ... ORPHA:582
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Protein-losing enteropathy, Diarrhea, Vomiting, Failure to thrive, Decreased liver ... OMIM:608104
Mulibrey Nanism
Microglossia, Congestive heart failure, Ascites, Nephroblastoma, Cardiomegaly, Thickened cortex o... OMIM:253250
Pediatric Systemic Lupus Erythematosus
Diarrhea, Dark urine, Hematuria, Cognitive impairment, Abdominal distention, Nephrotic syndrome, ... ORPHA:93552
Aicardi-Goutières Syndrome
Low-set ears, Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Hepatosplenomeg... ORPHA:51
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Urinary glycosaminoglycan excretion, Heavy proteinuria, Mitral regurgitation,... ORPHA:505248
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... OMIM:227270
Premature Ovarian Failure 21
Precocious puberty in females, Streak ovary, Elevated circulating follicle stimulating hormone le... OMIM:620311
Classic Galactosemia
Mental deterioration, Hepatic failure, Diarrhea, Vomiting, Hypoglycemia, Ascites, Feeding difficu... ORPHA:79239
Polycythemia Vera
Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer... OMIM:263300
Spinocerebellar Ataxia Type 32
Testicular atrophy, Azoospermia, Male infertility ORPHA:276183
Spermatogenic Failure 14
Abnormal circulating luteinizing hormone concentration, Abnormal circulating testosterone concent... OMIM:615842
Ritscher-Schinzel Syndrome 3
Short 1st metacarpal, Short first metatarsal, Micrognathia, Epiphyseal stippling, Cryptorchidism,... OMIM:619135
Pandas
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... ORPHA:66624
Thrombocytopenia 6
Myelofibrosis, Bone marrow hypercellularity, Spontaneous, recurrent epistaxis, Thrombocytopenia, ... OMIM:616937
Erythroleukemia, Familial, Susceptibility To
Erythroid hyperplasia, Splenomegaly, Hepatomegaly, Anemia, Acute myeloid leukemia, Thrombocytopen... OMIM:133180
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
46,Xy Sex Reversal 3
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:612965
Interstitial Cystitis
Functional abnormality of the bladder, Abnormality of the urethra, Urinary bladder inflammation, ... ORPHA:37202
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Decreased response to gro... OMIM:300845
Bleeding Disorder, Platelet-Type, 17
Myelofibrosis, Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Absence ... OMIM:187900
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Immunodeficiency 24
Decreased proportion of memory B cells, Reduced proportion of mucosal-associated invariant T cell... OMIM:615897
46,Xy Sex Reversal 1
Abnormal male external genitalia morphology, Elevated circulating luteinizing hormone level, Gona... OMIM:400044
Hypogonadism-Cataract Syndrome
Hypogonadism, Male hypogonadism, Elevated circulating follicle stimulating hormone level OMIM:240950
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Cor pulmonale, Proteinuria, Macronodular cirrhosis, Mucopolysacchariduria, Nephrotic syndrome, Sm... OMIM:215250
Testicular Regression Syndrome
Abnormal morphology of female internal genitalia, Decreased testicular size, Decreased fertility,... ORPHA:983
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Sandal gap, Ascites, Abnormality of the ureter, Oligohydramnios, Splenomegaly, Renal hypoplasia/a... ORPHA:1046
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Familial Peripheral Male-Limited Precocious Puberty
Precocious puberty, Long penis, Oligozoospermia, Macroorchidism, Male infertility ORPHA:3000
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Shallow acetabular fossae, Cardiomyopathy, Irregular carpal bones, Carpal b... OMIM:252600
Glycogen Storage Disease Iv
Hepatic failure, Skeletal muscle atrophy, Failure to thrive, Cardiomyopathy, Ascites, Hepatosplen... OMIM:232500
Autosomal Dominant Spastic Paraplegia Type 4
Distal amyotrophy, Leg muscle stiffness, Lower limb muscle weakness, Urinary bladder sphincter dy... ORPHA:100985
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Claw hand deformity, Flared iliac wing,... OMIM:252605
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Spermatogenic Failure 2
Non-obstructive azoospermia, Azoospermia, Oligozoospermia, Male infertility OMIM:108420
Hepatic Veno-Occlusive Disease
Ascites, Renal insufficiency, Increased body weight, Abdominal pain, Hepatomegaly, Jaundice ORPHA:890
Cenani-Lenz Syndactyly Syndrome
Broad hallux, Micrognathia, Radioulnar synostosis, Enamel hypoplasia, Hypoplasia of the radius, H... OMIM:212780
Mu-Heavy Chain Disease
Nephropathy, Abnormal bone marrow cell morphology, Bence Jones Proteinuria, Abnormal B cell count... ORPHA:100024
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Gastroesophageal reflux, Dicarboxylic aciduria, Hepatocellular necrosis, Hyp... OMIM:201475
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Mietens Syndrome
Elbow dislocation, Joint stiffness, Avascular necrosis of the capital femoral epiphysis, Elbow an... ORPHA:2557
Endocardial Fibroelastosis
Abnormal helix morphology, Restrictive cardiomyopathy, Sandal gap, Hypoglycemia, Congestive heart... ORPHA:2022
Deafness-Lymphedema-Leukemia Syndrome
Bone marrow hypocellularity, Acute leukemia, Vertigo, Leukocytosis, Splenomegaly, Intracranial he... ORPHA:3226
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level OMIM:616185
Immunodeficiency 53
Recurrent upper respiratory tract infections, Recurrent pneumonia, Recurrent otitis media, Skin r... OMIM:617585
Boomerang Dysplasia
Finger syndactyly, Micromelia, Decreased response to growth hormone stimulation test, Abnormal ti... ORPHA:1263
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Toe syndactyly, Shallow acetabular fossae, Broad thumb, Hypoplastic iliac wing, Micrognathia, Cry... OMIM:609945
Cenani-Lenz Syndrome
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Elbow dislocation, Finger synda... ORPHA:3258
Immunodeficiency 105
Reduced natural killer cell count, Absence of lymph node germinal center, Lymphopenia, Hepatosple... OMIM:619924
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Progressive Non-Fluent Aphasia
Mental deterioration, Temporal cortical atrophy, Memory impairment, Depression, Frontotemporal ce... ORPHA:100070
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Molluscum contagiosum, Recurrent otitis media, Hepatosplenomegaly, Lymphadenopathy, Increased pro... OMIM:618982
Autoimmune Lymphoproliferative Syndrome, Type Iia
Vasculitis, Gastrointestinal hemorrhage, Nephritis, Malar rash, Chronic noninfectious lymphadenop... OMIM:603909
Immunodeficiency 21
Reduced natural killer cell count, Aplastic anemia, Lymphopenia, Osteomyelitis, Megakaryocyte nuc... OMIM:614172
Transient Neonatal Diabetes Mellitus
Macroglossia, Abnormality of the urinary system, Maturity-onset diabetes of the young, Hearing im... ORPHA:99886
Mucopolysaccharidosis Type 2, Attenuated Form
Mental deterioration, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineural hearing... ORPHA:217093
3M Syndrome
Congenital hip dislocation, Rocker bottom foot, Slender long bone, Micromelia, Abnormal dental en... ORPHA:2616
Dehydrated Hereditary Stomatocytosis
Cholelithiasis, Increased mean corpuscular volume, Polycythemia, Increased mean corpuscular hemog... ORPHA:3202
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Uterus didelphys, Abnormality of the wrist, Short humerus, Split hand, Aplasia/Hypopl... ORPHA:2491
Carnitine Deficiency, Systemic Primary
Diarrhea, Vomiting, Failure to thrive, Cardiomyopathy, Recurrent hypoglycemia, Dicarboxylic acidu... OMIM:212140
Mucopolysaccharidosis Type 2, Severe Form
Mental deterioration, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineural hearing... ORPHA:217085
46,Xx Ovotesticular Difference Of Sex Development
Small scrotum, Hypospadias, Bifid scrotum, Abnormal morphology of female internal genitalia, Abno... ORPHA:2138
Nephrosialidosis
Nephropathy, Ascites, Renal insufficiency, Pericardial effusion, Nephrotic syndrome OMIM:256150
Immunodeficiency 15B
Reduced natural killer cell count, Chronic oral candidiasis, Monocytosis OMIM:615592
Myelodysplastic Syndrome Associated With Isolated Del(5Q) Chromosome Abnormality
Bone marrow hypocellularity, Abnormality of bone marrow stromal cells, Abnormal neutrophil morpho... ORPHA:86841
Gm1 Gangliosidosis Type 1
Low-set ears, Hearing impairment, Cardiomyopathy, Macrotia, Aspiration pneumonia, Hepatosplenomeg... ORPHA:79255
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Short femoral neck, Joint hypermobility, Carpal bone hypoplasia, Hypoplasia of the ulna, Dislocat... OMIM:618395
Hydrops Fetalis
Generalized edema, Abnormality of the urinary system, Lymphedema, Abnormal heart morphology, Asci... ORPHA:1041
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Neutropenia, Severe Congenital, 2, Autosomal Dominant
B lymphocytopenia, Neutropenia, Monocytosis OMIM:613107
Sialidosis Type 2
Nephropathy, Skeletal muscle atrophy, Hearing impairment, Ascites, Splenomegaly, Hepatomegaly, Fl... ORPHA:87876
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Splenomegaly, Sensorineural hearing imp... ORPHA:93474
Multiple Sulfatase Deficiency
Periorbital edema, Broad thumb, Rapid neurologic deterioration, Broad hallux, Hearing impairment,... OMIM:272200
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Recurrent respiratory infections, Pancytopenia... ORPHA:2585
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1
Osteopenia, Bone marrow hypocellularity, Reticular pattern on pulmonary HRCT, Aplastic anemia, Us... OMIM:614742
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Anterior pituita... OMIM:181450
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Azoospermia, Absent vas deferens, Male infertility OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Azoospermia, Absent vas deferens, Male infertility OMIM:277180
Chromosome 14Q32 Duplication Syndrome, 700-Kb
Chronic myelomonocytic leukemia, Myelofibrosis, Acute myeloid leukemia OMIM:616604
Congenital Bilateral Absence Of Vas Deferens
Obstructive azoospermia, Absent vas deferens, Oligozoospermia, Male infertility ORPHA:48
Lig4 Syndrome
Acute leukemia, Abnormal bone marrow cell morphology, Lymphoma, Pancytopenia, Leukocytosis, Crypt... ORPHA:99812
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effu... ORPHA:2414
Ghosal Hematodiaphyseal Dysplasia
Anemia, Craniofacial hyperostosis, Abnormal cortical bone morphology, Splenomegaly ORPHA:1802
Erythrocytosis, Familial, 1
Vertigo, Increased hematocrit, Splenomegaly, Increased red blood cell mass, Increased circulating... OMIM:133100
Adams-Oliver Syndrome
Finger syndactyly, Congenital hepatic fibrosis, Abnormal metacarpal morphology, Cirrhosis, Sparse... ORPHA:974
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Abnormal hair morphology, Nail dystrophy, Abdominal pain, Di... ORPHA:46487
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Acute leukemia, Hypogonadism, Renal insufficiency, Cryptorchidism, Att... ORPHA:281090
X-Linked Spastic Paraplegia Type 16
Functional abnormality of the gastrointestinal tract, Functional abnormality of the bladder, Abno... ORPHA:100997
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Ventricular septal defect, Short palm, Hepatomegaly, Short fo... OMIM:269860
Mucopolysaccharidosis, Type X
Aortic valve stenosis, Aortic regurgitation, Irregular acetabular roof, Genu valgum, Thickened ao... OMIM:619698
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Adult Idiopathic Neutropenia
Abnormal bone marrow cell morphology, Granulocytic hypoplasia, Lymphopenia, Bone marrow hypercell... ORPHA:2688
Pituitary Adenoma 1, Multiple Types
Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio... OMIM:102200
Immunodeficiency 115 With Autoinflammation
Hypoalbuminemia, Elevated haptoglobin level, Abnormal circulating creatine kinase concentration, ... OMIM:620632
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Lower limb undergrowth OMIM:218650
Neutrophilia, Hereditary
Granulocytic hyperplasia, Myelodysplasia, Splenomegaly, Neutrophilia OMIM:162830
5-Oxoprolinase Deficiency
Diarrhea, Prolinuria, Vomiting, Enterocolitis, Calcium oxalate nephrolithiasis, Abdominal pain, I... OMIM:260005
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Hepatosplenomegaly, Micrognathi... OMIM:274000
Autoimmune Lymphoproliferative Syndrome
Neoplasm of the skin, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T c... ORPHA:3261
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Increased myocardial glycogen content, Vent... OMIM:261740
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Increased circulating cre... OMIM:613752
Ciliary Dyskinesia, Primary, 51
Reduced sperm motility, Irregularly shaped sperm tail, Reduced progressive sperm motility, Short ... OMIM:620438
Diethylstilbestrol Syndrome
Hypoplasia of the uterus, Abnormality of the uterus, Vaginal neoplasm, Cryptorchidism, Testicular... ORPHA:1916
Distal Duplication 5Q
Absent thumb, Micrognathia, Cryptorchidism, Hernia, Aplasia/Hypoplasia of the gallbladder, Brachy... ORPHA:96097
Immunodeficiency 113 With Autoimmunity And Autoinflammation
Neutrophilia, Hematochezia, Minimal change glomerulonephritis, Intraalveolar phospholipid accumul... OMIM:620565
Immunodeficiency, Common Variable, 5
Abnormal T cell count, Abnormal B cell count, Recurrent respiratory infections OMIM:613495
Spastic Paraplegia 31, Autosomal Dominant
Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Dysphagia, Urinary urgency OMIM:610250
Lymphoproliferative Syndrome, X-Linked, 2
Inflammation of the large intestine, Folliculitis, Hepatitis, Splenomegaly, Erythema nodosum, Hep... OMIM:300635
Cholestasis, Progressive Familial Intrahepatic, 10
Hypoalbuminemia, Failure to thrive, Increased total bilirubin, Splenomegaly, Increased serum bile... OMIM:619868
Pseudohermaphroditism, Female, With Skeletal Anomalies
Clitoral hypertrophy, Ambiguous genitalia, Primary amenorrhea OMIM:264270
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Gastroesophageal reflux, Poor suck, Sensorineural h... OMIM:617519
Fanconi Anemia, Complementation Group G
Anemia, Neutropenia, Thrombocytopenia, Leukemia, Myelodysplasia OMIM:614082
Lymphoproliferative Syndrome, X-Linked, 1
Vasculitis, Abnormal T cell count, Hepatic failure, Aplastic anemia, Hemophagocytosis, Lymphoma, ... OMIM:308240
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399805
Ovarian Fibrothecoma
Abnormality of the ovary, Gonadal calcification, Metrorrhagia, Abnormal endometrium morphology, O... ORPHA:314478
Kniest Dysplasia
Delayed epiphyseal ossification, Enlarged metaphyses, Dumbbell-shaped femur, Hearing impairment, ... ORPHA:485
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Limitation of joint mobility, Finger syndactyly, Ectrodactyly, P... ORPHA:3329
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Hypoplasia of the... ORPHA:246
Congenital Disorder Of Deglycosylation 1
Low-set ears, Hepatic fibrosis, Small hand, Chondroitin sulfate excretion in urine, Oral-pharynge... OMIM:615273
Familial Atrial Myxoma
Pulmonic valve myxoma, Bacterial endocarditis, Congestive heart failure, Cholestasis, Tricuspid r... ORPHA:615
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Low-set ears, Eczematoid dermatitis, Hypertrophic cardiomyopathy, Cryptorch... OMIM:607721
Immunodeficiency 52
Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphopenia, Abnormal B cell co... OMIM:617514
Aicardi-Goutieres Syndrome 9
Thickened glomerular basement membrane, Hepatosplenomegaly, Hepatic steatosis, Chilblains, Weight... OMIM:619487
Free Sialic Acid Storage Disease
Ascites, Failure to thrive in infancy, Splenomegaly, Proteinuria, Aplasia/Hypoplasia of the abdom... ORPHA:834
Li-Fraumeni Syndrome
Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia... ORPHA:524
Autoimmune Disease, Multisystem, Infantile-Onset, 2
Minimal change glomerulonephritis, Podocyte foot process effacement, Proteinuria, Colitis, Nephro... OMIM:617006
B-Cell Expansion With Nfkb And T-Cell Anergy
Increased B cell count, Splenomegaly, Lymphoid hyperplasia OMIM:616452
Congenital Sialidosis Type 2
Low-set ears, Optic atrophy, Hearing impairment, Abnormal EKG, Abnormal heart morphology, Ascites... ORPHA:93400
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Cerebellar atrophy, Hypoplastic spleen, Agenesis of corpus callosum ORPHA:89844
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Failure to thrive, Ascites, Pericardial effusion, Villous atrophy, Splenomegaly, At... OMIM:608776
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Hypoplasia of the thymus, Impaired... OMIM:619313
Generalized Eruptive Histiocytosis
Hypereosinophilia, Maculopapular exanthema, Leukemia, Pruritus, Histiocytosis ORPHA:157991
Alpha-Heavy Chain Disease
Alopecia, Ascites, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Hepatomegaly... ORPHA:100025
Livedoid Vasculopathy
Graves disease, Polycythemia, Pancytopenia, Ischemic stroke, Leukocytosis, Superficial dermal per... ORPHA:542643
N Syndrome
Hearing impairment, Neoplasm, Cryptorchidism, Leukemia, Hypospadias OMIM:310465
Shigellosis
Urethritis, Cholestasis, Rhabdomyolysis, Anorexia, Abdominal pain, Intestinal perforation, Bloody... ORPHA:810
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Abnormal circulating insulin concentration, Proximal muscle weakness in lower limbs, Elevated cir... ORPHA:171706
46,Xy Sex Reversal 5
Abnormal circulating luteinizing hormone concentration, Elevated circulating follicle stimulating... OMIM:613080
Heart-Hand Syndrome Type 2
Aplasia/Hypoplasia of the radius, Micromelia, Abnormal shoulder morphology, Short 5th metacarpal,... ORPHA:1350
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Myofiber disarray, Myopathy, Pulmonary edema, Left bundle branch block, ... OMIM:115197
Isolated Follicle Stimulating Hormone Deficiency
Male hypogonadism, Decreased testicular size, Azoospermia, Delayed menarche, Decreased female lib... ORPHA:52901
Autoinflammation With Infantile Enterocolitis
Hypoalbuminemia, Reduced natural killer cell count, Failure to thrive, Increased circulating ferr... OMIM:616050
Inherited Creutzfeldt-Jakob Disease
Depression, Global brain atrophy, Central nervous system degeneration, Confusion, Astrocytosis, S... ORPHA:282166
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Osteopenia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Hypopituitarism, Recurrent ... ORPHA:98813
Behavioral Variant Of Frontotemporal Dementia
Mental deterioration, Memory impairment, Frontotemporal cerebral atrophy, Inappropriate behavior,... ORPHA:275864
Nasu-Hakola Disease
Cerebral cortical atrophy, Acute leukemia, Memory impairment, Limitation of joint mobility, Front... ORPHA:2770
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Hyperglycemia, Cryptorchi... OMIM:175700
Trimethylaminuria
Recurrent pneumonia, Depression, Splenomegaly, Trimethylaminuria, Neutropenia, Anemia, Tachycardi... OMIM:602079
Necrotizing Enterocolitis
Hypotension, Diarrhea, Vomiting, Abdominal distention, Bloody diarrhea, Shock, Hyperglycemia, Abn... ORPHA:391673
Alpha-Thalassemia-Myelodysplastic Syndrome
Acute leukemia, HbH hemoglobin, Microcytic anemia, Splenomegaly, Neutropenia, Thrombocytopenia, M... ORPHA:231401
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Leukemia, Monoclonal immunoglobulin M proteinemia, Impaired lymphocyte transformation with phytoh... OMIM:153600
Cirrhotic Cardiomyopathy
Pulmonary edema, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, Fourth heart sound, Rig... ORPHA:57777
Foxp1 Syndrome
Hypoplastic helices, Recurrent upper respiratory tract infections, Clinodactyly, Prominent finger... ORPHA:391372
Wolcott-Rallison Syndrome
Chronic kidney disease, Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Exo... ORPHA:1667
Sporadic Creutzfeldt-Jakob Disease
Memory impairment, Cerebral atrophy, Confusion, Astrocytosis, Cognitive impairment, Gliosis, Neur... ORPHA:204
Immunodeficiency 27A
Hypoalbuminemia, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Salmonella osteomyelitis, Weight... OMIM:209950
Amed Syndrome, Digenic
Bone marrow hypocellularity, Leukopenia, Attention deficit hyperactivity disorder, Acute myeloid ... OMIM:619151
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Increased nuchal translucency, Hydrops fetalis, Ascites ORPHA:295
Myeloproliferative Syndrome, Transient
Leukocytosis, Transient myeloproliferative syndrome OMIM:159595
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Hypertrichosis, ... OMIM:235255
Lig4 Syndrome
Pancytopenia, Myelodysplasia, Type II diabetes mellitus, Cryptorchidism, Psoriasiform dermatitis,... OMIM:606593
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Inflammatory abnormality of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, ... ORPHA:37042
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Cerebral cortical atrophy, Memory impairment, Inappropriate behavior, Astrocytosis, Frontotempora... OMIM:600795
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Dilated cardiomyopathy, Skeletal muscle atrophy, Failure to thrive, Decreased li... ORPHA:367
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, Sparse hair, Hypospadias, P... OMIM:614091
Congenital Disorder Of Glycosylation, Type Iir
Low-set ears, Micronodular cirrhosis, Decreased liver function, Ascites, Hepatic steatosis, Hepat... OMIM:301045
Immunodeficiency 104
Pneumonia, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Recurrent otitis media, Sple... OMIM:608971
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Fibular aplasia, Micrognathia, Aplasia/hypoplasia... ORPHA:3320
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated urinary 3-hydroxybutyric acid, Skeletal muscle atrophy, Diarrhea, Hypoglycemia, Dicarbox... ORPHA:42
Hypergonadotropic Hypogonadism-Cataract Syndrome
Secondary growth hormone deficiency, Absence of secondary sex characteristics, Delayed puberty, I... ORPHA:2410
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy
Generalized edema, Diarrhea, Pulmonary embolism, Vomiting, Intestinal lymphangiectasia, Budd-Chia... OMIM:226300
Schnitzler Syndrome
Vasculitis, Lymphoma, Leukocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Arthr... ORPHA:37748
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Abnormal heart morphology, T lymphocytopenia, Hypocalcemia DECIPHER:16
Primary Sclerosing Cholangitis
Cholestasis, Acute hepatic failure, Hepatosplenomegaly, Abnormal biliary tract morphology, Cirrho... ORPHA:171
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Delirium, Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis ORPHA:208441
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Elevated urinary catecholamine level, Arrhythmia, Pancreatic islet cell... ORPHA:892
Ethanolaminosis
Cardiomegaly OMIM:227150
Rothmund-Thomson Syndrome
Abnormal trabecular bone morphology, Osteopenia, Aplasia/Hypoplasia of the radius, Aplastic anemi... ORPHA:2909
Diffuse Cutaneous Mastocytosis
Gastrointestinal hemorrhage, Hypotension, Abnormal bone marrow cell morphology, Abnormality of th... ORPHA:79456
Perlman Syndrome
Low-set ears, Distal ileal atresia, Visceromegaly, Renal hamartoma, Hypoglycemia, Nephrogenic res... OMIM:267000
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Splenomegaly, Hepatomegaly, Anemia, Abnormal bone structure ORPHA:46532
Pseudomyxoma Peritonei
Inflammation of the large intestine, Ascites, Nausea and vomiting, Intestinal obstruction, Weight... ORPHA:26790
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi... ORPHA:3077
Congenital Disorder Of Glycosylation, Type Ik
Cardiomyopathy, Cerebral atrophy, Hypogonadism, Splenomegaly, Joint contracture, Hepatomegaly, Fl... OMIM:608540
Agammaglobulinemia 8B, Autosomal Recessive
Recurrent pneumonia, B Acute Lymphoblastic Leukemia, Prominent stem of antihelix, Pancytopenia, S... OMIM:619824
Babesiosis
Hepatic failure, Depression, Limitation of joint mobility, Congestive heart failure, Confusion, L... ORPHA:108
Congenital Disorder Of Glycosylation, Type Iil
Unilateral renal agenesis, Optic atrophy, Proximal tubulopathy, Inflammation of the large intesti... OMIM:614576
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Chondrodysplasia Calcificans Metaphysealis
Metaphyseal chondrodysplasia, Mucopolysacchariduria, Metaphyseal dysplasia OMIM:215050
Acro-Renal-Mandibular Syndrome
Hypoplastic scapulae, Finger syndactyly, Uterus didelphys, Rudimentary fibula, Micrognathia, Rudi... ORPHA:958
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Second degree atrioventricular block, Decreased liver function, Ascites, Oligohydramnios, Ventric... OMIM:617021
Ciliary Dyskinesia, Primary, 37
Female infertility, Goiter OMIM:617577
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Male hypogonadism, Abnormal vagina morphology, Gonadal dysgenesis, Abnormal female external genit... ORPHA:168563
Masp2 Deficiency
Recurrent pneumonia, Ulcerative colitis OMIM:613791
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal gastrointestinal tract morphology, Hip contracture, Abnormal renal cortex morphology, Ab... ORPHA:464321
Autoimmune Hepatitis
Gastrointestinal hemorrhage, Spider hemangioma, Inflammation of the large intestine, Viral hepati... ORPHA:2137
Immunodeficiency 97 With Autoinflammation
Hemophagocytosis, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly, ... OMIM:619802
Immunodeficiency 48
Pneumonia, Eczematoid dermatitis, Abnormal B cell count, Splenomegaly, Impaired lymphocyte transf... OMIM:269840
Hydatidiform Mole
Menometrorrhagia, Enlarged uterus ORPHA:99927
Familial Mediterranean Fever
Nephropathy, Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhyt... ORPHA:342
Cutis Laxa, Autosomal Recessive, Type Ic
Periorbital edema, Rectal prolapse, Multiple bladder diverticula, Gastroesophageal reflux, Ascite... OMIM:613177
Ataxia-Pancytopenia Syndrome
Acute myelomonocytic leukemia, Cerebellar atrophy, Decreased nerve conduction velocity, Pancytope... OMIM:159550
Methemoglobinemia And Ambiguous Genitalia
Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrosterone-sulf... OMIM:250790
46,Xy Sex Reversal 7
Sex reversal, Hypoplasia of the fallopian tube, Streak ovary, Abnormal epididymis morphology, Gon... OMIM:233420
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Hepatic artery hyperplasia, Tricuspid regurgitation, Ascites, Portal ... OMIM:619433
Waldenström Macroglobulinemia
Normocytic anemia, Vasculitis, Monoclonal immunoglobulin M proteinemia, Memory impairment, Gastro... ORPHA:33226
Shwachman-Diamond Syndrome
Abnormality of the outer ear, Aplastic anemia, Hearing impairment, Hypopituitarism, Pancytopenia,... ORPHA:811
Ficolin 3 Deficiency
Recurrent lower respiratory tract infections, Necrotizing enterocolitis OMIM:613860
Hemochromatosis, Type 2B
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Conges... OMIM:613313
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Abnormally low T cell receptor excision circle level, Recurrent pneumonia, Lymphadenitis, Pulmona... OMIM:618986
Peripartum Cardiomyopathy
Abnormal cardiac atrium morphology, Mitral regurgitation, Elevated jugular venous pressure, Left ... ORPHA:563
Erythrocytosis, Familial, 8
Polycythemia, Increased hematocrit, Splenomegaly, Increased circulating hemoglobin concentration,... OMIM:222800
Trichohepatoenteric Syndrome 2
Sparse hair, Diarrhea, Failure to thrive, Bloody diarrhea, Trichorrhexis nodosa, Chronic hepatiti... OMIM:614602
Rothmund-Thomson Syndrome Type 1
Neoplasm of the skin, Aplastic anemia, Cryptorchidism, Telangiectasia, Melanoma, Neutropenia, Cal... ORPHA:221008
Microphthalmia, Syndromic 9
Low-set ears, Diaphragmatic eventration, Multilobulated spleen, Agenesis of pulmonary vessels, Re... OMIM:601186
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Abnormal cortical bone morphology, Splenomegaly, Aplasia/Hypoplasia of the lungs, Hepatomegaly, I... ORPHA:2204
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Microretrognathia, Aplasia/Hypoplasia of ... ORPHA:1788
Immunodeficiency 32B
Pneumonia, Impaired oxidative burst, Splenomegaly, Granulocytic hyperplasia, Hepatomegaly, Eosino... OMIM:226990
Leptin Deficiency Or Dysfunction
Hypogonadism, Decreased testicular size, Micropenis, Primary amenorrhea OMIM:614962
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities
Hearing impairment, Hypertrophic cardiomyopathy, Obesity, Bilateral coxa valga, Intermittent diar... OMIM:620270
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Abnormal circulating insulin concentration, Hypoketotic hypoglycemia, Large for gestational age, ... ORPHA:293964
Autosomal Recessive Spastic Paraplegia Type 27
Sensorineural hearing impairment, Spastic/hyperactive bladder, Abnormality of somatosensory evoke... ORPHA:101007
Spastic Paraplegia 41, Autosomal Dominant
Urinary urgency, Lower limb muscle weakness OMIM:613364
Focal Segmental Glomerulosclerosis 1
Focal segmental glomerulosclerosis, Hyperechogenic kidneys, Ascites, Stage 5 chronic kidney disea... OMIM:603278
Leukemia, Chronic Myeloid
Chronic myelogenous leukemia, Ph-positive acute lymphoblastic leukemia OMIM:608232
Zygomycosis
Diarrhea, Abnormal cranial nerve morphology, Ileitis, Pustule, Acute infectious pneumonia, Perior... ORPHA:73263
Proteus Syndrome
Mandibular hyperostosis, Facial hyperostosis, Splenomegaly, Multiple lipomas, Hemangioma, Thin bo... OMIM:176920
Attrv30M Amyloidosis
Nephropathy, Atrioventricular block, Diarrhea, Cardiomyopathy, Cardiomegaly, Arrhythmia, Weight l... ORPHA:85447
Primary Familial Polycythemia
Epistaxis, Polycythemia, Vertigo, Abnormal hemoglobin, Pruritus ORPHA:90042
Autosomal Recessive Spastic Paraplegia Type 76
Functional abnormality of the bladder, Lower limb muscle weakness, Skeletal muscle atrophy ORPHA:488594
Plin1-Related Familial Partial Lipodystrophy
Infertility, Oligomenorrhea, Polycystic ovaries ORPHA:280356
Mccune-Albright Syndrome
Renal phosphate wasting, Increased circulating cortisol level, Increased circulating prolactin co... ORPHA:562
Tyrosinemia, Type I
Acute hepatic failure, Cirrhosis, Glomerular sclerosis, Hepatomegaly, Gastrointestinal hemorrhage... OMIM:276700
Immunodeficiency, Common Variable, 8, With Autoimmunity
Inflammation of the large intestine, Recurrent otitis media, Erythema nodosum, Atrophic gastritis... OMIM:614700
Nephrotic Syndrome, Type 7
Hypoalbuminemia, Hemolytic anemia, Thrombocytopenia OMIM:615008
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Hypertrichosis, ... ORPHA:1655
Stormorken Syndrome
Howell-Jolly bodies, Epistaxis, Myopathy, Hematuria, Subarachnoid hemorrhage, Thrombocytopenia, A... OMIM:185070
Tempi Syndrome
Polycythemia, Ascites, Increased hematocrit, Transudative pleural effusion, Abnormality of the pu... ORPHA:284227
Bardet-Biedl Syndrome 16
Bronchiolitis, Hearing impairment, Renal agenesis, Hypogonadism, Recurrent otitis media, Obesity,... OMIM:615993
Primary Erythromelalgia
Leukemia, Vasculitis, Recurrent respiratory infections, Pruritus ORPHA:90026
Ovarian Fibroma
Abnormality of the ovary, Ovarian fibroma, Gonadal calcification ORPHA:314473
Immunodeficiency 112
Reduced natural killer cell count, Chronic mucocutaneous candidiasis, Increased T cell count, Dec... OMIM:620449
Acrorenal-Mandibular Syndrome
Hypoplastic scapulae, Absent nipple, Toe syndactyly, Uterus didelphys, Rudimentary fibula, Elbow ... OMIM:200980
W Syndrome
Clinodactyly, Radial bowing, Elbow dislocation, Cubitus valgus, Hypoplasia of the ulna, Metatarsu... ORPHA:2804
Sandhoff Disease
Hearing impairment, Progressive psychomotor deterioration, Congestive heart failure, Splenomegaly... ORPHA:796
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cone-shaped epiphysis, Metaphyseal spurs, Preaxial polydactyly, Acetabular spurs, Femoral bowing,... OMIM:613091
Down Syndrome
Conductive hearing impairment, Polycythemia, Decreased fertility, Type II diabetes mellitus, Acut... ORPHA:870
Perrault Syndrome 4
Hypoplasia of the ovary, Oligomenorrhea, Primary amenorrhea, Increased circulating gonadotropin l... OMIM:615300
Pearson Syndrome
Hearing impairment, Pancytopenia, Hepatic steatosis, Neutropenia, Hypoparathyroidism, Hepatomegal... ORPHA:699
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Recurrent upper respiratory tract infections, Abnormal pulmonary interstitial morphology, Hepatos... OMIM:613101
Beta-Thalassemia Intermedia
Extramedullary hematopoiesis, Persistence of hemoglobin F, Hepatosplenomegaly, High-output conges... ORPHA:231222
Spastic Paraplegia 83, Autosomal Recessive
Dysphagia, Urinary urgency OMIM:619027
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Congenital pulmonary airway malformation, Ileal atresia, Colonic atresia, Duodenal ... OMIM:243150
Congenital Myopathy 8
Increased variability in muscle fiber diameter, Congestive heart failure, Muscle fiber atrophy, T... OMIM:618654
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Type I diabetes mellitus, Breast aplasia, Decreas... ORPHA:3044
Complete Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Increased serum estradi... ORPHA:99429
Leishmaniasis
Hypoalbuminemia, Pancytopenia, Leukopenia, Abnormal macrophage morphology, Splenomegaly, Weight l... ORPHA:507
Desmoplastic Small Round Cell Tumor
Abdominal distention, Ascites, Ileus, Nausea and vomiting, Cachexia, Weight loss, Testicular neop... ORPHA:83469
Liver Disease, Severe Congenital
Dry hair, Portal inflammation, Diarrhea, Recurrent otitis media, Dilatation of the ventricular ca... OMIM:619991
Chilblain Lupus
Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ... ORPHA:90280
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Male hypogonadism, Abnormality of the Leydig cells, Azoospermia, Ovarian cyst, Hypogonadotropic h... OMIM:228300
Diarrhea 8, Secretory Sodium, Congenital
Inflammation of the large intestine, Secretory diarrhea, Elevated fecal sodium, Abdominal distent... OMIM:616868
Frasier Syndrome
Primary amenorrhea, Ovarian gonadoblastoma, Male pseudohermaphroditism, Gonadal dysgenesis OMIM:136680
Partial Androgen Insensitivity Syndrome
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Male sexual dysfunction, Bi... ORPHA:90797
Diarrhea 7, Protein-Losing Enteropathy Type
Hypoalbuminemia, Hyperlipidemia, Failure to thrive, Hypercholesterolemia OMIM:615863
Lymphedema, Primary, With Myelodysplasia
Verrucae, Pancytopenia, Decreased CD4:CD8 ratio, Acute myeloid leukemia, Leukemia, Myelodysplasia OMIM:614038
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Elevated circulating hepatic transaminase concentration, Polycythemia, Micronodular cirrhosis, Hy... ORPHA:309854
Inflammatory Bowel Disease 29
Ulcerative colitis, Crohn's disease OMIM:618077
Bardet-Biedl Syndrome
Fifth finger distal phalanx clinodactyly, Chronic kidney disease, Inflammation of the large intes... ORPHA:110
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Hypoplasia of the ulna, Micrognathia, Clinodactyly ORPHA:357175
Tetragametic Chimerism
Clitoral hypertrophy, Bifid scrotum, Abnormality of the ovary, Abnormal scrotum morphology, Crypt... ORPHA:199310
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Failure to thrive, Congestive heart failure, Hype... OMIM:614096
Hypogonadotropic Hypogonadism 25 With Anosmia
Micropenis, Hypoplasia of the ovary, Cryptorchidism, Primary amenorrhea OMIM:618841
Alg8-Cdg
Low-set ears, Optic atrophy, Diarrhea, Vomiting, Failure to thrive, Ascites, Feeding difficulties... ORPHA:79325
Diffuse Neonatal Hemangiomatosis
Ascites, Renal insufficiency, Polyhydramnios, Renal hypoplasia/aplasia, Hepatomegaly, Hydrops fet... ORPHA:2123
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Supernumerary nipple, Micrognathia, Cryptorchidism, Radi... OMIM:263750
Erythroderma, Lethal Congenital
Hypoalbuminemia, Failure to thrive OMIM:227090
Niemann-Pick Disease, Type B
Mental deterioration, Sea-blue histiocytosis, Splenomegaly, Hepatomegaly, Thrombocytopenia, Anemi... OMIM:607616
Immunodeficiency 76
Recurrent pneumonia, Splenomegaly, Recurrent bronchiolitis, Colitis, Chronic diarrhea OMIM:619164
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome
Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Respir... ORPHA:444463
Mitchell-Riley Syndrome
Diarrhea, Annular pancreas, Pancreatic hypoplasia, Anteriorly placed anus, Meckel diverticulum, C... OMIM:615710
Immunodeficiency 50
Lymphopenia, Neutropenia OMIM:300988
Hemochromatosis, Type 3
Increased circulating iron concentration, Cardiomyopathy, Increased circulating ferritin concentr... OMIM:604250
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Genu valgum, Short femoral neck, Short palm OMIM:184095
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Bone marrow hypocellularity, Increased mean corpuscular volume, Megakaryocyte dysplasia, Pancytop... OMIM:619041
Leydig Cell Hypoplasia
Male hypogonadism, Breast aplasia, Hypoplasia of the Leydig cells, Abnormal external genitalia, C... ORPHA:755
Ataxia-Telangiectasia
Lymphoma, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count... OMIM:208900
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Osteoarthritis of the elbow, Camptodactyly of finger, Ascites, Pleuritis, Mitral regurgitation, M... ORPHA:2848
Immunodeficiency 43
Hypoalbuminemia, Reduced natural killer cell count, Decreased circulating beta-2-microglobulin le... OMIM:241600
Intellectual Developmental Disorder, Autosomal Recessive 35
Hypoplasia of the ulna, Micrognathia, Clinodactyly OMIM:615162
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Ascites, Renal cyst, Polycystic liver disease, Abdominal distention OMIM:174050
Beta-Thalassemia
Cholelithiasis, Hepatitis, Microcytic anemia, Hypertrophic cardiomyopathy, Splenomegaly, Abnormal... ORPHA:848
Myeloproliferative Disorder, Chronic, With Eosinophilia
Eosinophilia, Myeloproliferative disorder, Malignant eosinophil proliferation OMIM:131440
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Lymphoma, Recurrent otitis media, Lymphoproliferative disorder, Decreased CD4:CD8 ratio, Decrease... OMIM:300853
Inflammatory Bowel Disease (Infantile Ulcerative Colitis) 31, Autosomal Recessive
Ulcerative colitis, Bloody diarrhea OMIM:619398
Aromatase Deficiency
Female infertility, Male infertility, Ambiguous genitalia, female, Female pseudohermaphroditism, ... ORPHA:91
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Micrognathia, ... OMIM:268310
Syndromic Diarrhea
Ventricular septal defect, Bicuspid aortic valve, Hepatoblastoma, Cirrhosis, Atrial septal defect... ORPHA:84064
Chylous Ascites
Ascites, Pancreatitis, Abnormal intestine morphology, Lymphedema ORPHA:1160
Diarrhea 10, Protein-Losing Enteropathy Type
Low-set ears, Hematochezia, Protein-losing enteropathy, Recurrent upper respiratory tract infecti... OMIM:618183
Splenoportal Vascular Anomalies
Hepatic fibrosis, Ascites, Splenomegaly, Cirrhosis, Anomalous splenoportal venous system, Diabete... OMIM:271500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Inflammation of the large intestine, Diarrhea, Periodontitis, Hepatic steatosis, Polycystic ovari... ORPHA:79259
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Neurodegeneration, Lymphopenia, Leukopenia, Joint stiffness, Splenomegaly, Joint hypermobility, H... OMIM:620210
Combined Oxidative Phosphorylation Deficiency 5
Low-set ears, Hypertrophic cardiomyopathy, Ascites, Abnormal renal tubule morphology, Posteriorly... OMIM:611719
Functioning Gonadotropic Adenoma
Impotence, Pituitary gonadotropic cell adenoma, Decreased response to growth hormone stimulation ... ORPHA:91348
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Osteopenia, Increased cerebral lipofuscin, Hypersplenism, Splenomegaly, Hepatomegaly, Thrombocyto... OMIM:610539
Immunodeficiency 103, Susceptibility To Fungal Infections
Hypereosinophilia, Abnormal B cell count, Abnormal proportion of CD8-positive T cells, Abnormal p... OMIM:212050
Autosomal Recessive Spastic Paraplegia Type 15
Distal amyotrophy, Functional abnormality of the bladder, Leg muscle stiffness, Upper limb muscle... ORPHA:100996
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276580
Wolman Disease
Hepatic failure, Malnutrition, Adrenal calcification, Ascites, Adrenal insufficiency, Nausea and ... ORPHA:75233
Satoyoshi Syndrome
Abnormality of the uterus, Abnormality of the ovary, Amenorrhea, Hypoplasia of the ovary, Hypopla... ORPHA:3130
Niemann-Pick Disease, Type A
Vomiting, Skeletal muscle atrophy, Failure to thrive, Ascites, Splenomegaly, Hepatomegaly, Feedin... OMIM:257200
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Hyperglycemia, Arrhythmia, Cirrhosis, Elevated jugular venous pressure, We... ORPHA:465508
Diarrhea 13
Hypoalbuminemia, Failure to thrive OMIM:620357
Erythrocytosis, Familial, 4
Elevated circulating erythropoietin concentration, Polycythemia, Increased hematocrit, Increased ... OMIM:611783
Leukemia, Chronic Lymphocytic
Chronic lymphatic leukemia OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2
Chronic lymphatic leukemia OMIM:109543
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Meningioma, Large earlobe, Nephroblastoma, Joint hypermobility, Leukemia OMIM:602501
Cutaneous Photosensitivity And Colitis, Lethal
Colitis, Diarrhea OMIM:219095
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Amenorrhea, Premature ovarian insufficiency OMIM:619425
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hypoplasia of the r... OMIM:602418
Hepatoportal Sclerosis
Nodular regenerative hyperplasia of liver, Periportal fibrosis, Abnormality of the hepatic vascul... ORPHA:64743
Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne
Elbow flexion contracture, Hepatosplenomegaly, Knee flexion contracture, Arthritis, Colitis, Ster... OMIM:604416
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 2
Bone marrow hypocellularity, Aplastic anemia, Pancytopenia, Cirrhosis, Myeloid leukemia, Leukemia... OMIM:614743
Lysosomal Acid Lipase Deficiency
Diarrhea, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Nausea and vomiting, Feeding ... ORPHA:275761
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Hypoplasia of the ovary... OMIM:614841
Cockayne Syndrome Type 3
Retinal hemorrhage, Cognitive impairment, Hepatomegaly, Optic disc pallor, Macrotia, Hydroureter,... ORPHA:90324
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Pneumonia, Recurrent upper respiratory trac... OMIM:602450
Leukocyte Adhesion Deficiency
Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome... ORPHA:2968
Homozygous 11P15-P14 Deletion Syndrome
Generalized aminoaciduria, Vomiting, Diarrhea, Failure to thrive, Hypoglycemia, Congenital sensor... OMIM:606528
Hemochromatosis, Type 2A
Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo... OMIM:602390
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Cholestasis, Hepatosplenomegaly, Hypersplenism, Congenital hepatic fibrosis, Hepato... ORPHA:731
Pachydermoperiostosis
Neoplasm of the skin, Gastrointestinal hemorrhage, Abnormal bone marrow cell morphology, Limitati... ORPHA:2796
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 9
Leukemia, Leukopenia, Pulmonary fibrosis OMIM:620400
Gray Platelet Syndrome
Abnormality of the menstrual cycle ORPHA:721
Pituitary Carcinoma
Pituitary gonadotropic cell adenoma, Pituitary prolactin cell adenoma, Increased circulating prol... ORPHA:300385
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypertrophic cardiomyopathy, Hype... ORPHA:276575
Acute Monoblastic/Monocytic Leukemia
Hypochromic anemia, Central hypothyroidism, Acute monocytic leukemia, Oliguria, Progressive heari... ORPHA:514
Wilson Disease
Acute hepatic failure, Limb muscle weakness, Hepatic steatosis, Cirrhosis, Abdominal distention, ... OMIM:277900
Immunodeficiency, Common Variable, 11
Inflammation of the large intestine, Failure to thrive, Mucoid diarrhea, Crohn's disease, Recurre... OMIM:615767
Bardet-Biedl Syndrome 5
Hypogonadism, Obesity, Polydactyly, Brachydactyly, Cognitive impairment, Micropenis, Syndactyly OMIM:615983
Somatostatinoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97283
Myelocytic Leukemia-Like Syndrome, Familial, Chronic
Chronic myelogenous leukemia OMIM:600080
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Cryptorchidism, H... ORPHA:84
Gaucher Disease, Perinatal Lethal
Low-set ears, Pulmonary hypoplasia, Hepatic failure, Ascites, Hepatosplenomegaly, Polyhydramnios,... OMIM:608013
Charcot-Marie-Tooth Disease, Type 4B1
Abnormal auditory evoked potentials, Decreased motor nerve conduction velocity, Distal amyotrophy... OMIM:601382
Reynolds Syndrome
Gastroesophageal reflux, Xerostomia, Ascites, Skin rash, Abnormal gastric mucosa morphology, Infe... ORPHA:779
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Abnormality of the uterus, Camptodactyly of finger, Breast aplasi... ORPHA:3138
Duane-Radial Ray Syndrome
Radial deviation of the hand, Absent thumb, Short thumb, Sandal gap, Shoulder dislocation, Preaxi... OMIM:607323
Von Hippel-Lindau Syndrome
Retinal capillary hemangioma, Polycythemia, Vertigo, Pancreatic cysts, Pheochromocytoma, Sensorin... OMIM:193300
Bone Marrow Failure Syndrome 3
Bone marrow hypocellularity, Aplastic anemia, Increased mean corpuscular volume, Eczematoid derma... OMIM:617052
Ophthalmomandibulomelic Dysplasia
Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ... ORPHA:2741
Bloom Syndrome
Neoplasm of the skin, Neoplasm of the colon, Stomach cancer, Abscess, Abnormal proportion of CD8-... ORPHA:125
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Generalized aminoaciduria, Hypochromic anemia, Rickets, Elevated... ORPHA:289157
Fanconi Anemia, Complementation Group D2
Low-set ears, Bone marrow hypocellularity, Annular pancreas, Hearing impairment, Horseshoe kidney... OMIM:227646
Lymphatic Malformation 6
Facial edema, Generalized edema, Gastroesophageal reflux, Cupped ear, Hearing impairment, Chyloth... OMIM:616843
Van Den Ende-Gupta Syndrome
Joint contracture of the hand, Hypoplastic scapulae, Long metacarpals, Long hallux, Micrognathia,... OMIM:600920
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Decreased serum testost... OMIM:305400
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Increased proportion of tran... OMIM:615513
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Hepatic fibrosis, Hematochezia, Dilated cardiomyopathy, Skeletal muscle atrophy, Inflammation of ... OMIM:615895
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Feeding difficulties in in... OMIM:608836
Cocaine Intoxication
Rhabdomyolysis, Hematuria, Pulmonary edema, Glomerulonephritis, Delirium, Tachycardia, Tubulointe... ORPHA:90068
Erythrocytosis, Familial, 2
Hypotension, Elevated circulating erythropoietin concentration, Increased hematocrit, Increased r... OMIM:263400
Lead Poisoning
Chronic kidney disease, Imbalanced hemoglobin synthesis, Cognitive impairment, Oligozoospermia, T... ORPHA:330015
Burkitt Lymphoma
Gastrointestinal hemorrhage, Abnormal bone marrow cell morphology, Abnormal lymph node morphology... ORPHA:543
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Diarrhea, Large fleshy ears, Ventricular septal defe... ORPHA:79328
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Low-set ears, Unilateral renal agenesis, Hearing impairment, Supernumerary nipple, Camptodactyly ... OMIM:619951
Gracile Bone Dysplasia
Ascites, Decreased skull ossification, Micropenis, Asplenia, Hypoplastic spleen OMIM:602361
Glucagonoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97280
Inflammatory Bowel Disease 3
Ulcerative colitis OMIM:604519
Inflammatory Bowel Disease 21
Ulcerative colitis OMIM:612354
Immunodeficiency 75 With Lymphoproliferation
Lymphoma, Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memo... OMIM:619126
Heme Oxygenase 1 Deficiency
Epistaxis, Diffuse alveolar hemorrhage, Nephritis, Cervical lymphadenopathy, Elevated circulating... OMIM:614034
Secondary Short Bowel Syndrome
Diarrhea, Central hypothyroidism, Failure to thrive, Vomiting, Volvulus, Cholestasis, Malnutritio... ORPHA:95427
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Generalized aminoaciduria, Depletion of mitochondrial DNA in liver, Periportal fibrosis, Vomiting... OMIM:251880
Primary Hepatic Neuroendocrine Carcinoma
Increased serum serotonin, Diarrhea, Weight loss, Abdominal distention, Anorexia, Hepatomegaly, R... ORPHA:100085
Beckwith-Wiedemann Syndrome
Nephropathy, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Congenital diaphrag... ORPHA:116
Congenital-Onset Steinert Myotonic Dystrophy
Diarrhea, Gastroesophageal reflux, Bundle branch block, Obesity, Short attention span, Polyhydram... ORPHA:589821
Seckel Syndrome 10
Elevated circulating luteinizing hormone level, Congestive heart failure, Hypertension, Elevated ... OMIM:617253
Ogden Syndrome
Low-set ears, Torsade de pointes, Recurrent otitis media, Cryptorchidism, Pulmonary edema, Premat... OMIM:300855
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased circulating ferritin concentratio... OMIM:267700
Classic Mycosis Fungoides
Neoplasm of the skin, Abnormal bone marrow cell morphology, Eczematoid dermatitis, Lymphoma, Abno... ORPHA:2584
Pituicytoma
Increased circulating prolactin concentration, Decreased response to growth hormone stimulation t... ORPHA:251623
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Recurrent aspiration pneumonia, Diarrhea, Urinary retention, Chronic mucocutaneous candidiasis, R... ORPHA:79124
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Oligohydramnios, Cryptorchidism, Cardiomegaly, Perimembranous ventri... OMIM:620135
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Joint stif... ORPHA:2307
Primary Intestinal Lymphangiectasia
Generalized edema, Increased stool alpha1-antitrypsin concentration, Peritoneal effusion, Intesti... ORPHA:90362
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Recurrent hypoglycemia, Hypertrophic cardiomyopathy, Hypoke... ORPHA:276556
Frontometaphyseal Dysplasia 2
Low-set ears, Broad thumb, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural ... OMIM:617137
Grfoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97261
Thymoma
Rheumatoid arthritis, Aplastic anemia, Imbalanced hemoglobin synthesis, Neoplasm of head and neck... ORPHA:99867
Acheiropody
Absent forearm, Lower limb peromelia, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Bardet-Biedl Syndrome 19
Hypoplastic left heart, Renal hypoplasia, Postaxial foot polydactyly, Hearing impairment, Hypogon... OMIM:615996
Unclassified Myelodysplastic Syndrome
Bone marrow hypocellularity, Myelodysplasia, Leukocytosis, Acute myeloid leukemia, Multiple linea... ORPHA:98827
Immunodeficiency 64 With Lymphoproliferation
Increased proportion autoreactive unresponsive CD21-/low B cells, Abnormal CD4:CD8 ratio, Cervica... OMIM:618534
Eosinophilic Gastroenteritis
Allergic rhinitis, Hematochezia, Atopic dermatitis, Diarrhea, Vomiting, Protein-losing enteropath... ORPHA:2070
Cryptococcosis
Pneumonia, Mental deterioration, Abnormality of the outer ear, Memory impairment, Cerebral cortic... ORPHA:1546
Familial Infantile Bilateral Striatal Necrosis
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Astrocytosis, Atrophy/Dege... ORPHA:225154
Lymphangioleiomyomatosis
Optic atrophy, Gastrointestinal hemorrhage, Chylothorax, Atelectasis, Abnormal urinary color, Lym... ORPHA:538
Fanconi Anemia, Complementation Group C
Bone marrow hypocellularity, Hearing impairment, Horseshoe kidney, Pancytopenia, Cryptorchidism, ... OMIM:227645
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Supernumerary nipple, Mesomelic leg shortening, Fibular aplasia, Limi... OMIM:605274
Infection-Related Hemolytic Uremic Syndrome
Diarrhea, Abdominal pain, Pleural empyema, Intestinal perforation, Acute kidney injury, Anuria, G... ORPHA:544482
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Congestive heart failure, Reduced left ventricular ejection fraction, Car... OMIM:604765
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99226
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:881
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Acute hepatic failure, Malabs... ORPHA:131
Immunodeficiency 18
Reduced natural killer cell count, Lymphopenia, Abnormal B cell count, Decreased proportion of CD... OMIM:615615
Combined Immunodeficiency, X-Linked
Pneumonia, Abnormal T cell count, Decreased proportion of CD8-positive T cells, Decreased proport... OMIM:312863
Refractory Anemia With Excess Blasts
Abnormal mean corpuscular volume, Bone marrow hypocellularity, Abnormal bone marrow cell morpholo... ORPHA:86839
Amoebiasis Due To Entamoeba Histolytica
Diarrhea, Congestive heart failure, Abnormal pericardium morphology, Protracted diarrhea, Bloody ... ORPHA:67
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Joint stiffness,... ORPHA:1275
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Overlapping fingers, Radioulnar synostosis, Limited pronation/supination of f... OMIM:616738
Caroli Disease
Cholestasis, Cirrhosis, Weight loss, Anorexia, Hepatomegaly, Abdominal pain, Jaundice, Polycystic... ORPHA:53035
Spastic Paraplegia 27, Autosomal Recessive
Spastic/hyperactive bladder OMIM:609041
Fanconi Anemia, Complementation Group A
Hearing impairment, Male infertility, Horseshoe kidney, Pancytopenia, Cryptorchidism, Anemia, Ret... OMIM:227650
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Diarrhea, Vomiting, Glycosuria, Hyperinsulinemia, Hypoketotic hypoglycemia, Large for gestational... ORPHA:263455
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Aplasia/Hypoplasia of the r... ORPHA:959
Timothy Syndrome
Pneumonia, Atrioventricular block, Bronchitis, Hypoglycemia, Tetralogy of Fallot, Patent foramen ... OMIM:601005
Mogs-Cdg
Overlapping fingers, Hepatosplenomegaly, Chronic constipation, Sensorineural hearing impairment, ... ORPHA:79330
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Atrophic gastritis, Pneumonia, Type I diabetes mellitus, Inflammation of the large intestine, Ato... ORPHA:436159
Myeloproliferative Disease, Autosomal Recessive
Myeloproliferative disorder OMIM:254700
Hermansky-Pudlak Syndrome 1
Hematochezia, Epistaxis, Inflammation of the large intestine, Cardiomyopathy, Renal insufficiency... OMIM:203300
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Large for gestational age, Pancreatic islet-cell hyperplasia, Hyp... OMIM:601820
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Small pituitary gland, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614880
Neutropenia, Severe Congenital, 3, Autosomal Recessive
Conductive hearing impairment, Myelodysplasia, Sensorineural hearing impairment, Neutropenia, Acu... OMIM:610738
Fumarase Deficiency
Aminoaciduria, Elevated urine fumaric acid level, Intrahepatic cholestasis, Optic atrophy, Hepati... OMIM:606812
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Failure to thrive, Hypoglycemia, Congestive heart failure, Hepatic steat... OMIM:619048
Myalgia-Eosinophilia Syndrome Associated With Tryptophan
Lymphopenia, Eosinophilia, Limitation of joint mobility, Arthritis ORPHA:2582
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Immunodeficiency 60 And Autoimmunity
Ulcerative colitis, Splenomegaly, Crohn's disease, Recurrent sinopulmonary infections, Pulmonary ... OMIM:618394
Crimean-Congo Hemorrhagic Fever
Diarrhea, Morbilliform rash, Nausea and vomiting, Hematuria, Erythema nodosum, Anorexia, Hepatome... ORPHA:99827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Irregular epiphyses, Hypoplastic iliac wing, Cone-shaped epiphyses of the phalanges of the hand, ... OMIM:208500
Acrocephalopolydactylous Dysplasia
Low-set ears, Hepatic fibrosis, Micromelia, Polysplenia, Ascites, Hypoplastic colon, Abnormal pin... OMIM:200995
Pseudo-Torch Syndrome 2
Secundum atrial septal defect, Ascites, Pleural effusion, Bradycardia, Abnormal renal corticomedu... OMIM:617397
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Osteopenia, Hypoplasia of the ulna, Osteoporosis OMIM:615398
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Wwox Deficiency
Urinary bladder sphincter dysfunction ORPHA:284282
Immunodeficiency, Common Variable, 6
Abnormal T cell count, Stage 5 chronic kidney disease, Abnormal B cell count, Hydronephrosis, Glo... OMIM:613496
Spastic Paraplegia 72A, Autosomal Dominant
Urinary bladder sphincter dysfunction OMIM:615625
Hypermanganesemia With Dystonia 1
Elevated circulating hepatic transaminase concentration, Polycythemia, Decreased liver function, ... OMIM:613280
Griscelli Syndrome
Silver-gray hair, Hepatitis, White hair, Premature graying of hair, Ascites, Abnormal eyebrow mor... ORPHA:381
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Nephrocalcinosis, Astrocytosis, Joint hypermobility, Facial hypotonia, Diabetes insipidus OMIM:611087
Immunodeficiency 15A
Decreased proportion of memory B cells, Cutaneous abscess, Chronic mucocutaneous candidiasis, Acn... OMIM:618204
Focal Cortical Dysplasia, Type Ii
Astrocytosis, Cognitive impairment OMIM:607341
Combined Oxidative Phosphorylation Deficiency 54
Memory impairment, Lower limb muscle weakness, Hyperglycemia, Obesity, Feeding difficulties, Sens... OMIM:619737
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Splenomegaly, Skin rash, Hepatomegaly, Lymphadenopathy, Thrombocytopenia, Neutr... OMIM:603552
Erythrocytosis, Familial, 5
Increased circulating hemoglobin concentration, Increased hematocrit, Elevated circulating erythr... OMIM:617907
Fanconi Anemia, Complementation Group T
Bone marrow hypocellularity, Hearing impairment, Pancytopenia, Acute myeloid leukemia, Thrombocyt... OMIM:616435
Blepharophimosis, Ptosis, And Epicanthus Inversus
Irregular menstruation, Female infertility, Amenorrhea, Increased circulating gonadotropin level,... OMIM:110100
Fanconi Anemia, Complementation Group E
Hearing impairment, Horseshoe kidney, Pancytopenia, Cryptorchidism, Anemia, Reticulocytopenia, Ne... OMIM:600901
Spondyloepimetaphyseal Dysplasia, Irapa Type
Synostosis of carpal bones, Limitation of joint mobility, Abnormal epiphysis morphology, Micromel... ORPHA:93351
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Alpha-N-Acetylgalactosaminidase Deficiency
Recurrent pneumonia, Gastroesophageal reflux, Oligosacchariduria, Hearing impairment, Lymphedema,... ORPHA:3137
Vaginal Atresia
Imperforate hymen, Uterus didelphys, Abnormality of the uterus, Vaginal hematocele, Transverse va... ORPHA:65681
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Coproporphyria, Hereditary
Depression, Elevated urinary coproporphyrin level, Confusion, Increased urinary porphobilinogen, ... OMIM:121300
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Hyperinsulinemia, Hypoketotic hypoglycemia, Excessive insul... ORPHA:324575
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Inflammatory abnormality of the skin, Diarrhea, Hepatosplenomegaly, Abnormal intestine morphology... ORPHA:391487
Shox-Related Short Stature
Micrognathia, Genu valgum, Tibial bowing, Madelung deformity, Ulnar radial head dislocation, Cubi... ORPHA:314795
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Megacystis, Intestinal pseudo-obstruction, ... OMIM:619350
Bloom Syndrome
Facial telangiectasia in butterfly midface distribution, Recurrent upper respiratory tract infect... OMIM:210900
Nephrotic Syndrome, Type 2
Hypoalbuminemia, Hyperlipidemia OMIM:600995
Sotos Syndrome
Low-set ears, Long metacarpals, Tall stature, Genu valgum, Cryptorchidism, Ventricular septal def... OMIM:117550
Immunodeficiency 87 And Autoimmunity
Cholestasis, Biventricular hypertrophy, Hepatic steatosis, Atrial septal defect, Hepatomegaly, Ja... OMIM:619573
Felty Syndrome
Bone marrow hypocellularity, Recurrent pneumonia, Chronic otitis media, Limitation of joint mobil... ORPHA:47612
Cantu Syndrome
Erlenmeyer flask deformity of the femurs, Congenital hypertrophy of left ventricle, Broad hallux,... OMIM:239850
Macrophage Activation Syndrome
Hypoalbuminemia, Hemophagocytosis, Increased circulating ferritin concentration, Splenomegaly, An... ORPHA:158061
Acquired Aneurysmal Subarachnoid Hemorrhage
Memory impairment, Vasospasm, Vomiting, Congestive heart failure, Hypopituitarism, Hyperglycemia,... ORPHA:90065
Triokinase And Fmn Cyclase Deficiency Syndrome
Hypoalbuminemia, Failure to thrive in infancy, Dilated cardiomyopathy, Microcytic anemia OMIM:618805
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Talipes equinovarus, ... OMIM:143095
Ppoma
Diarrhea, Increased circulating cortisol level, Increased circulating prolactin concentration, Na... ORPHA:97278
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Adr... ORPHA:289548
46,Xx Sex Reversal 1
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:400045
Porphyria Due To Ala Dehydratase Deficiency
Ankle flexion contracture, Depression, Abnormal fear-induced behavior, Purple urine, Hearing impa... ORPHA:100924
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Recurrent upper respiratory tract infections, Gastroesophageal reflux, Recurrent otitis media, Cr... ORPHA:589905
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Hypoplasia of the musculature, Limb muscle weakness, Hip contracture, Hepatomegaly,... OMIM:620369
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Increased circulating gonadotropin level, Decreased testicular size ORPHA:399808
Sclerosing Cholangitis, Neonatal
Hepatic bridging fibrosis, Hepatic failure, Portal fibrosis, Biliary cirrhosis, Hearing impairmen... OMIM:617394
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Elevated circulating luteinizing hormone level, Hypotension, Abnormality of the Leydig cells, Abs... ORPHA:168558
Vipoma
Follicular thyroid carcinoma, Increased circulating cortisol level, Increased circulating prolact... ORPHA:97282
Hsd10 Disease, Infantile Type
Optic atrophy, Hearing impairment, Hypoglycemia, Hypertrophic cardiomyopathy, Abnormality of the ... ORPHA:391428
Farber Disease
Hepatic fibrosis, Recurrent upper respiratory tract infections, Hepatic failure, Skeletal muscle ... ORPHA:333
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Progressive neurologic deterioration, Nephropathy, Type I diabetes mellitus, Cerebral cortical at... ORPHA:1192
Congenitally Uncorrected Transposition Of The Great Arteries
Biventricular hypertrophy, Abnormal mitral valve morphology, Ventricular septal defect, Abnormal ... ORPHA:860
Radial Hypoplasia, Triphalangeal Thumbs, Hypospadias, And Maxillary Diastema
Nonopposable triphalangeal thumb, Hypospadias, Hypoplasia of the radius OMIM:179250
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Abnormal bone marrow cell morphology, Lymphoma, Splenomegaly, B-cell lymphoma, Lymphadenopathy, H... ORPHA:86893
Gaucher Disease Type 1
Splenic infarction, Cholelithiasis, Erlenmeyer flask deformity of the femurs, Hepatic failure, As... ORPHA:77259
Senior-Boichis Syndrome
Chronic kidney disease, Abnormal urinary electrolyte concentration, Cholestasis, Hepatosplenomega... ORPHA:84081
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Diarrhea, Cholestasis, Hepatic steatosis, Polycystic ovaries, Increased body weight, Dysmenorrhea... ORPHA:264580
Hereditary Amyloidosis With Primary Renal Involvement
Nephropathy, Diarrhea, Abnormal urinary electrolyte concentration, Hepatosplenomegaly, Myopathy, ... ORPHA:85450
Immunodeficiency, Common Variable, 13
Pancytopenia, Acute lymphoblastic leukemia, B lymphocytopenia OMIM:616873
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Decreased testicular size, Azoospermia, Cryptorchidism, Hypogonadotropic hypogonadism, Primary am... OMIM:614837
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Radial Hypoplasia-Triphalangeal Thumbs-Hypospadias-Maxillary Diastema Syndrome
Hypoplasia of the radius, Nonopposable triphalangeal thumb, Hypospadias, Micromelia ORPHA:2252
Autosomal Spastic Paraplegia Type 72
Memory impairment, Urinary bladder sphincter dysfunction ORPHA:401849
Portal Hypertension, Noncirrhotic, 2
Nodular regenerative hyperplasia of liver, Epistaxis, Ascites, Portal hypertension, Splenomegaly,... OMIM:619463
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Small hand, Mitral valve prolapse, Sparse eyelashes, Low posterior hairline, Persis... OMIM:612863
Inflammatory Bowel Disease 13
Inflammation of the large intestine OMIM:612244
Inflammatory Bowel Disease (Crohn Disease) 19
Inflammation of the large intestine OMIM:612278
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Abnormality of the wrist, Radioulnar synostosis, Abnormal metacarpal... ORPHA:2319
Purine Nucleoside Phosphorylase Deficiency
Pneumonia, Recurrent upper respiratory tract infections, Decreased urinary urate, Lymphoma, Cereb... OMIM:613179
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Neonatal Lupus Erythematosus
Aplastic anemia, Pancytopenia, Parakeratosis, Arrhythmia, Neutropenia, Hepatomegaly, Hyperkeratos... ORPHA:398124
Immunodeficiency 102
Nodular regenerative hyperplasia of liver, Reduced natural killer cell count, Increased proportio... OMIM:301082
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormally low T cell receptor excision circle level, Pneumonia, Reduced natural killer cell coun... ORPHA:276
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Mic... OMIM:610628
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance
Chronic kidney disease, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Fa... ORPHA:567546
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
Focal segmental glomerulosclerosis, Nephrotic syndrome, Enterocolitis, Mesangial hypercellularity OMIM:620425
X-Linked Intellectual Disability, Van Esch Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163976
Mody
Nephropathy, Abnormal circulating insulin concentration, Glycosuria, Insulin-resistant diabetes m... ORPHA:552
Spinocerebellar Ataxia Type 25
Episodic abdominal pain, Vomiting, Urinary urgency, Facial myokymia ORPHA:101111
Fabry Disease
Nephropathy, Hearing impairment, Nausea and vomiting, Mitral regurgitation, Sensorineural hearing... ORPHA:324
46,Xy Partial Gonadal Dysgenesis
Clitoral hypertrophy, Elevated circulating luteinizing hormone level, Abnormal vagina morphology,... ORPHA:251510
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Chr... ORPHA:244
Noonan Syndrome
Osteopenia, Juvenile myelomonocytic leukemia, Abnormal EKG, Hypertrophic cardiomyopathy, Abnormal... ORPHA:648
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Persistent fetal circulat... ORPHA:363705
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Extramedullary hematopoiesis, Abnormal lymph node morphology, Hepatosplenomegaly, Leuk... OMIM:612840
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, 3-Methylglutaconic aciduria, Neuronal loss in central nervous system, Hepa... OMIM:203700
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Multicystic kidney dysplasia, Muscular dystrophy, Hearing impairment, Abnor... ORPHA:1052
Immunodeficiency 69
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Leukocytosis, Splenomegaly, Skin rash, Thromb... OMIM:618963
Müllerian Aplasia And Hyperandrogenism
Abnormality of the ovary, Hypoplasia of the uterus, Abnormal vagina morphology, Primary amenorrhea ORPHA:247768
Non-Functioning Pituitary Adenoma
Hypopituitarism, Central adrenal insufficiency, Female hypogonadism, Male hypogonadism, Decreased... ORPHA:91349
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Insulin-resistant diabetes mellitus, Congestive heart failure, Hyp... ORPHA:79083
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Diarrhea, Recurrent hypoglycemia, Cholestasis, Acute hepatic failure, Hepatic steatosis, Cirrhosi... OMIM:256810
Nephrotic Syndrome, Type 15
Hypoalbuminemia OMIM:617609
Reactive Arthritis
Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe... ORPHA:29207
Immunodeficiency, Common Variable, 1
Pneumonia, Abnormal T cell count, Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Recu... OMIM:607594
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Hypoglycemia, Hypertrophic cardiomyopathy, ... ORPHA:369
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis OMIM:247800
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Broad thumb, Dilatation of the renal pelv... OMIM:619534
Activated Pi3K-Delta Syndrome
Pneumonia, Recurrent tonsillitis, Hearing impairment, Lymphoma, Recurrent otitis media, Splenomeg... ORPHA:397596
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Hearing impairment, Failure to thrive, Decreased pineal volum... OMIM:301108
Histiocytosis-Lymphadenopathy Plus Syndrome
Clinodactyly, Hearing impairment, Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral... OMIM:602782
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Immunodeficiency 58
Allergic rhinitis, Recurrent pneumonia, Bronchiectasis, Recurrent upper respiratory tract infecti... OMIM:618131
Narcolepsy Type 1
Precocious puberty, Transient global amnesia, Male sexual dysfunction, Female sexual dysfunction,... ORPHA:2073
48,Xxyy Syndrome
Gastroesophageal reflux, Recurrent respiratory infections, Abnormal shoulder morphology, Decrease... ORPHA:10
Adenosine Triphosphate, Elevated, Of Erythrocytes
Reduced erythrocyte 2,3-diphosphoglycerate concentration, Polycythemia OMIM:102900
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Adrenal calcification, Sensorineural hearing impairm... ORPHA:51608
Spastic Paraplegia 11, Autosomal Recessive
Mental deterioration, Skeletal muscle atrophy, Lower limb muscle weakness, Urinary bladder sphinc... OMIM:604360
Rajab Interstitial Lung Disease With Brain Calcifications 1
Cholestasis, Slender build, Hepatic steatosis, Cirrhosis, High palate, Bile duct proliferation, E... OMIM:613658
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Alopecia, Palmar telangiectasia, Sparse body hair, Ascites, ... ORPHA:69735
Tularemia
Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Confusion, Abnormal nasoph... ORPHA:3392
Mehmo Syndrome
Large earlobe, Obesity, Cryptorchidism, Talipes equinovarus, EEG abnormality, Micropenis, Hypopla... ORPHA:85282
Primary Myelofibrosis
Abnormal bone marrow cell morphology, Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytope... ORPHA:824
Multiple Epiphyseal Dysplasia Type 4
Limitation of joint mobility, Radial bowing, Hypoplastic cervical vertebrae, Premature osteoarthr... ORPHA:93307
Glycogen Storage Disease Ib
Focal segmental glomerulosclerosis, Inflammation of the large intestine, Hypoglycemia, Decreased ... OMIM:232220
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Cryptorchidism, Talipes equinova... OMIM:108720
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Abscess, Ovarian cyst, Abnormal peritoneum morphology, Abnorm... ORPHA:400
Arthrogryposis, Distal, Type 2A
Joint contracture of the hand, Hearing impairment, Cryptorchidism, Hip contracture, Talipes equin... OMIM:193700
Congenital Enterovirus Infection
Hypoalbuminemia, Cardiomyopathy, Leukopenia, Leukocytosis, Hyperammonemia, Abnormal macrophage mo... ORPHA:292
Distal Deletion 10Q
Low-set ears, Clinodactyly, Atrial septal defect, Anal atresia, High palate, Hip dislocation, Pat... ORPHA:96148
Chronic Myeloid Leukemia
Abnormal granulocyte morphology, Leukocytosis, Splenomegaly, Abnormal basophil morphology, Thromb... ORPHA:521
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features
Failure to thrive in infancy, Obesity, Attention deficit hyperactivity disorder, Feeding difficul... OMIM:613670
17Q11 Microdeletion Syndrome
Low-set ears, Glioma, Brainstem glioma, Brain neoplasm, Leukemia, Cerebellar glioma, Precocious p... ORPHA:97685
Aicardi-Goutieres Syndrome 6
Splenomegaly, Chilblains, Irritability, Thrombocytopenia, Hepatomegaly, Hemolytic anemia OMIM:615010
Combined Immunodeficiency Due To Zap70 Deficiency
Pneumonia, Lymphadenitis, Chronic mucocutaneous candidiasis, Failure to thrive, Hepatosplenomegal... ORPHA:911
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Immunodeficiency 70
Celiac disease, Recurrent sinusitis, Achalasia, Colitis, Furuncle OMIM:618969
Abcd Syndrome
Abnormal auditory evoked potentials, Polycythemia, Hearing impairment, Aganglionic megacolon, Tot... OMIM:600501
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Macroglossia, Muscular dystrophy, Atelectasis, Cardiomyopathy, Absent muscle fiber merosin, Reduc... ORPHA:258
Dengue Fever
Epistaxis, Hypotension, Gastrointestinal hemorrhage, Diarrhea, Ascites, Nausea and vomiting, Skin... ORPHA:99828
Coronary Arterial Fistula
Aortic valve stenosis, Bicuspid aortic valve, Arrhythmia, Elevated jugular venous pressure, Atria... ORPHA:2041
Uruguay Faciocardiomusculoskeletal Syndrome
Low-set ears, Congenital hip dislocation, Ventricular hypertrophy, Joint contracture of the hand,... OMIM:300280
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Recurrent pneumonia, Bronchiectasis, Failure to thrive in infancy, Frontal upsweep of hair, Ureth... OMIM:301220
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Clinodactyl... ORPHA:1352
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Small pituitary gland, Cryptorchidism, Hypogonadotropic hypogonadism, Primary amenorrhea, Micropenis OMIM:612702
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Short sperm flagella, Male infertility, Coiled sperm flagella OMIM:620197
Autoinflammatory Disease, Systemic, With Vasculitis
Cholestasis, Hepatosplenomegaly, Elevated circulating alanine aminotransferase concentration, Hep... OMIM:620376
Immunodeficiency, Common Variable, 3
Abnormal T cell count, Recurrent otitis media, Abnormal B cell count, Recurrent sinusitis, Decrea... OMIM:613493
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Post-Traumatic Pituitary Deficiency
Decreased response to growth hormone stimulation test, Panhypopituitarism, Decreased testicular s... ORPHA:95619
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Recurrent sinusitis, Hodgkin lymphoma, Absent circulating B cells, Ge... OMIM:620282
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency
Splenomegaly, Hodgkin lymphoma, Decreased proportion of class-switched memory B cells, Coombs-pos... OMIM:619375
Johanson-Blizzard Syndrome
Frontal upsweep of hair, Cryptorchidism, Sensorineural hearing impairment, Ventricular septal def... OMIM:243800
Bronchogenic Cyst
Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pericardium morphology, Abnor... ORPHA:2357
Congenital Bile Acid Synthesis Defect Type 1
Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Neonatal ch... ORPHA:79301
Noonan Syndrome 6
Low-set ears, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Sens... OMIM:613224
46,Xx Gonadal Dysgenesis
Aplasia/hypoplasia of the uterus, Gonadal dysgenesis, Streak ovary, Decreased fertility, Primary ... ORPHA:243
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Vomiting, Hypoketotic hypoglycemia, Cardiomegaly, Ventricular tachycardia... OMIM:600649
Granulomatous Disease, Chronic, Autosomal Recessive, 5
Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Anal fissure, Hepatosplenomegaly, Pleu... OMIM:618935
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Methemoglobinemia, Polycythemia OMIM:250800
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Leukopenia, Splenomegaly, Hepatomegaly, Thrombocytopenia, Neutropen... OMIM:615285
15Q24 Microdeletion Syndrome
Small hand, Clinodactyly, Hearing impairment, Cryptorchidism, Congenital diaphragmatic hernia, An... ORPHA:94065
Spastic Paraplegia Type 7
Optic atrophy, Memory impairment, Upper limb muscle weakness, Lower limb muscle weakness, Ragged-... ORPHA:99013
Cholestasis, Progressive Familial Intrahepatic, 1
Osteopenia, Cholelithiasis, Epistaxis, Rickets, Splenomegaly, Cirrhosis, Intrahepatic cholestasis... OMIM:211600
Agammaglobulinemia, X-Linked
Recurrent pneumonia, Bronchiectasis, Septic arthritis, Hearing impairment, Pyoderma, Recurrent ot... OMIM:300755
Laurence-Moon Syndrome
Finger syndactyly, Low-set, posteriorly rotated ears, Obesity, Renal insufficiency, Cryptorchidis... ORPHA:2377
Peritoneal Cystic Mesothelioma
Dyspareunia, Metrorrhagia, Menorrhagia ORPHA:168816
Indolent Systemic Mastocytosis
Mastocytosis, Abnormal bone marrow cell morphology, Pruritus, Increased proportion of CD25+ mast ... ORPHA:98848
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Inflammatory Bowel Disease 28, Autosomal Recessive
Hematochezia, Folliculitis, Pyoderma, Crohn's disease, Perianal abscess, Enterocolitis, Colitis OMIM:613148
Musculocontractural Ehlers-Danlos Syndrome
Hearing impairment, Decreased muscle mass, Abnormal mesentery morphology, Cryptorchidism, Myopath... ORPHA:2953
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Nephrocalcinosis, Rickets, Hepatosplenomegaly, Distal renal tubular acidosis, Reticulocytosis, Is... OMIM:611590
Fibular Aplasia-Complex Brachydactyly Syndrome
Synostosis of carpal bones, Abnormal epiphysis morphology, Limitation of joint mobility, Micromel... ORPHA:2639
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Recurrent upper respiratory tract infections, Recurrent pneumonia, Inflammatory abnormality of th... ORPHA:277
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Skeletal muscle atrophy, Axial muscle atrophy, Atelectasis, Pulmonary fibrosis, Bi... ORPHA:254361
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Generalized Pustular Psoriasis
Hypoalbuminemia, Lymphopenia, Obesity, Leukocytosis, Hypocalcemia, Hyponatremia, Arthritis, Eleva... ORPHA:247353
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Tricuspid regurgitation, Mitral regurgitation, Cryptorchidism, Joint hyp... ORPHA:404443
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Cardiomyopathy, Myopathy, Sensorineural hearing impairment, Absent brainstem audit... ORPHA:1215
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Elevated circulating thyroid-stimulating hormone concentration, Hearin... OMIM:274300
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Limb muscle weakness, Myopathy, Arrhythmia, Cognitive impairment, Hypomimic f... ORPHA:254892
Ovarian Hyperstimulation Syndrome
Generalized edema, Hemorrhagic ovarian cyst, Ascites, Peripheral edema, Pleural effusion, Nausea ... ORPHA:64739
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Cholestasis, Obesity... OMIM:615630
Alg1-Cdg
Hypoalbuminemia, Cardiomyopathy, Limitation of joint mobility, Abnormal heart morphology ORPHA:79327
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Auditory Neuropathy, Autosomal Dominant 1
Abnormal auditory evoked potentials, Sensorineural hearing impairment OMIM:609129
Tropical Endomyocardial Fibrosis
Abnormal atrioventricular valve physiology, Restrictive cardiomyopathy, P pulmonale, Mitral regur... ORPHA:75565
Malignant Peritoneal Mesothelioma
Ascites, Ileus, Peritonitis, Weight loss, Abdominal distention, Abdominal pain, Pedal edema ORPHA:168811
Acromesomelic Dysplasia 1
Acromesomelia, Radial bowing, Short toe, Flared metaphysis, Long hallux, Cone-shaped epiphyses of... OMIM:602875
Chromosome Xq27.3-Q28 Duplication Syndrome
Decreased serum testosterone concentration, Decreased testicular size, Hypogonadism, Cryptorchidi... OMIM:300869
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Acne, Vasculitis, Inflammation of the large intestine, Abnormal epiphysis morphology, Osteomyelit... ORPHA:324964
Hennekam Syndrome
Low-set ears, Conductive hearing impairment, Finger syndactyly, Chylothorax, Camptodactyly of fin... ORPHA:2136
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Mayer-Rokitansky-Kuster-Hauser Syndrome
Hematocolpos, Abnormal female external genitalia morphology, Aplasia of the vagina, Polycystic ov... OMIM:277000
Deafness, Autosomal Recessive 104
Absent brainstem auditory responses, Prelingual sensorineural hearing impairment OMIM:616515
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Insulinoma
Transient global amnesia, Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pit... ORPHA:97279
Congenital Disorder Of Glycosylation, Type It
Recurrent otitis media, Hepatic steatosis, Rhabdomyolysis, Ventricular septal defect, Hepatomegal... OMIM:614921
Intellectual Developmental Disorder, X-Linked 90
Bifid uvula, Attention deficit hyperactivity disorder, Enuresis, High palate OMIM:300850
Pediatric-Onset Graves Disease
Emotional lability, Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves diseas... ORPHA:525731
Long-Olsen-Distelmaier Syndrome
Low-set ears, Dilated cardiomyopathy, Secundum atrial septal defect, Failure to thrive, Hypoglyce... OMIM:620609
Hemoglobin H Disease
HbH hemoglobin, Splenomegaly, Hepatomegaly, Reduced alpha/beta synthesis ratio, Hemolytic anemia OMIM:613978
Mismatch Repair Cancer Syndrome 2
Glioblastoma multiforme, T-cell acute lymphoblastic leukemias, Colon cancer OMIM:619096
Cholestasis, Progressive Familial Intrahepatic, 3
Intrahepatic cholestasis, Portal fibrosis, Portal inflammation, Diarrhea, Ascites, Malabsorption,... OMIM:602347
Glycogen Storage Disease Due To Acid Maltase Deficiency
Hearing impairment, Lower limb muscle weakness, Feeding difficulties in infancy, Cognitive impair... ORPHA:365
Sandhoff Disease
Skeletal muscle atrophy, Progressive psychomotor deterioration, Increased urinary N-acetylglucosa... OMIM:268800
Gm2 Gangliosidosis, Ab Variant
Inappropriate behavior, Abnormal fear-induced behavior, Cognitive impairment, Exaggerated startle... ORPHA:309246
Progressive Familial Intrahepatic Cholestasis
Cholestasis, Neoplasm, Splenomegaly, Cognitive impairment, Hepatomegaly, Jaundice, Reduced bone m... ORPHA:172
Melorheostosis With Osteopoikilosis
Hypertension, Osteopoikilosis, Abnormal cortical bone morphology, Multiple lipomas ORPHA:1879
Ovarian Hyperstimulation Syndrome
Ascites, Nausea, Abdominal pain OMIM:608115
Linear Iga Dermatosis
Renal neoplasm, Epistaxis, Inflammation of the large intestine ORPHA:46488
Autoimmune Polyendocrinopathy Type 4
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym... ORPHA:227990
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Immunodeficiency 114, Folate-Responsive
Atopic dermatitis, Cerebellar atrophy, Cerebral atrophy, Lymphopenia, Megaloblastic bone marrow, ... OMIM:620603
Wilson Disease
Proximal muscle weakness in lower limbs, Depression, Elevated circulating hepatic transaminase co... ORPHA:905
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hypoalbuminemia, Failure to thrive, Hemophagocytosis, Increased total bilirubin, Increased circul... OMIM:603553
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome
Splenic infarction, Persistence of hemoglobin F, Increased red cell sickling tendency, Reticulocy... ORPHA:251380
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Limitation of joint mobility, Elbow dislocation, Finger syndact... ORPHA:2633
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Bardet-Biedl Syndrome 2
Dilated cardiomyopathy, Postaxial foot polydactyly, Hypogonadism, Obesity, Bicuspid aortic valve,... OMIM:615981
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Male pseudohermaphroditism, Ambiguous genitalia, Adrenal hyperplasia, Primary amenorrhea OMIM:202110
Immunodeficiency 40
Focal active colitis, Recurrent pneumonia, Recurrent otitis media, Intermittent diarrhea, Interst... OMIM:616433
Amyloidosis, Hereditary Systemic 1
Urinary incontinence, Diarrhea, Hearing impairment, Cardiomyopathy, Confusion, Sensorineural hear... OMIM:105210
Familial Hemophagocytic Lymphohistiocytosis
Cholestatic liver disease, Decreased liver function, Splenomegaly, Skin rash, Sensorineural heari... ORPHA:540
Autoimmune Lymphoproliferative Syndrome
Vasculitis, Chronic noninfectious lymphadenopathy, Autoimmune hemolytic anemia, Splenomegaly, Fol... OMIM:601859
Multiple Acyl-Coa Dehydrogenase Deficiency
Feeding difficulties, Rhabdomyolysis, Arrhythmia, Hepatomegaly, Dysphagia, Abnormal pinna morphol... ORPHA:26791
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Microcytic anemia, Hepatosplenomegaly, Joint hypermobility, Hypertriglyceridemia OMIM:619013
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Abnormality of the urinary system, Hearing impairment, Veloph... OMIM:182290
Mhc Class Ii Deficiency 1
Recurrent upper respiratory tract infections, Chronic mucocutaneous candidiasis, Failure to thriv... OMIM:209920
Rothmund-Thomson Syndrome Type 2
Abnormal trabecular bone morphology, Osteopenia, Neoplasm of the skin, Basal cell carcinoma, Apla... ORPHA:221016
Immunodeficiency 11B With Atopic Dermatitis
Pneumonia, Atopic dermatitis, Ulcerative colitis, Colonic eosinophilia, Chronic diarrhea, Bronchi... OMIM:617638
Propionic Acidemia
Organic aciduria, Cardiomyopathy, Hypoglycemia, Arrhythmia, Constipation, Hepatomegaly ORPHA:35
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Patellar aplasia, Perineal fistula,... OMIM:218600
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, P... OMIM:260400
Li-Fraumeni Syndrome
Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Lung adenocarcinoma, Nephroblasto... OMIM:151623
Erythrocytosis, Familial, 7
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617981
Erythrocytosis, Familial, 6
Increased circulating hemoglobin concentration, Increased hematocrit, Polycythemia OMIM:617980
Hemochromatosis, Type 4
Cardiomyopathy, Hepatic steatosis, Hepatomegaly, Arrhythmia, Cirrhosis, Osteoarthritis, Anemia, I... OMIM:606069
Sepsis In Premature Infants
Hypotension, Oliguria, Diarrhea, Vomiting, Abdominal distention, Decreased liver function, Functi... ORPHA:90051
Insulin-Resistance Syndrome Type B
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II diabetes mellitus, ... ORPHA:2298
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Abdominal dist... ORPHA:97214
Alstrom Syndrome
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Hepatic steatosis, Sensorin... OMIM:203800
Phoar2-Enteropathy Syndrome
Hypoalbuminemia, Hyperostosis, Periostosis OMIM:614441
Inflammatory Bowel Disease (Crohn Disease) 1
Inflammation of the large intestine, Diarrhea, Recurrent aphthous stomatitis, Intestinal obstruct... OMIM:266600
Disabling Pansclerotic Morphea Of Childhood
Elevated circulating C-reactive protein concentration, Lymphopenia, Neutropenia, Joint contracture OMIM:620443
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Sarcoidosis, Susceptibility To, 1
Inflammation of the large intestine, Iridocyclitis, Weight loss, Anorexia, Hepatomegaly, Elevated... OMIM:181000
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Irregular menstruation, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration... ORPHA:79240
Trisomy 10P
Low-set ears, Decreased muscle mass, Thumb contracture, Absent gallbladder, Talipes equinovarus, ... ORPHA:171929
Congenital Lethal Erythroderma
Hypoalbuminemia, Failure to thrive ORPHA:1954
Blepharophimosis-Impaired Intellectual Development Syndrome
Low-set ears, Feeding difficulties, Cryptorchidism, Recurrent bronchitis, Sparse eyelashes, Talip... OMIM:619293
Fibular Hemimelia
Toe syndactyly, Limitation of joint mobility, Short tibia, Limited knee flexion/extension, Finger... ORPHA:93323
Immunodeficiency 84
B-cell lymphoma, Perianal abscess, Splenomegaly, B lymphocytopenia OMIM:619437
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:616030
Congenital Enterocyte Heparan Sulfate Deficiency
Hypoalbuminemia, Abnormal circulating protein concentration, Abnormal circulating polysaccharide ... ORPHA:103910
Kaposiform Lymphangiomatosis
Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Fractures of the long bones, Hepatosp... ORPHA:464329
Secondary Intestinal Lymphangiectasia
Intestinal bleeding, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointestinal eosinoph... ORPHA:90363
Persistent Polyclonal B-Cell Lymphocytosis
Hepatomegaly, Lymphocytosis, Splenomegaly OMIM:606445
Autoimmune Polyendocrinopathy Type 3
Non-caseating epithelioid cell granulomatosis, Aplasia/Hypoplasia of the spleen, Osteopenia, Thym... ORPHA:227982
Dominant Beta-Thalassemia
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231226
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Hypogonadism, Obesity, Decreased fertility, Mitral valve prolapse, Abnormal morphology of ulna, L... ORPHA:2233
Carnitine Palmitoyltransferase I Deficiency
Diarrhea, Ketonuria, Dicarboxylic aciduria, Hypoketotic hypoglycemia, Renal tubular acidosis, Hep... OMIM:255120
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Cardiomyopathy, Urinary bladder ... ORPHA:52430
Immunodeficiency, Common Variable, 2
Abnormal T cell count, Recurrent pneumonia, Lymphoma, Recurrent otitis media, Neoplasm, Splenomeg... OMIM:240500
Ollier Disease
Precocious puberty, Visceral angiomatosis, Neoplasm, Joint stiffness, Lymphangioma, Hemangioma, A... ORPHA:296
Specific Granule Deficiency 1
Increased neutrophil mitochondria, Increased neutrophil ribosomes, Absent neutrophil lactoferrin,... OMIM:245480
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, External genital hypoplasia, Cryptorchidism, Small thenar eminence, Hy... OMIM:613390
Roussy-Lévy Syndrome
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb... ORPHA:3115
Lymphoproliferative Syndrome 2
Recurrent pneumonia, Ascites, Hepatosplenomegaly, Splenomegaly, EBV encephalitis, Hepatomegaly, U... OMIM:615122
Beta-Thalassemia Major
Hypoplasia of the musculature, Reduced hemoglobin A, Extramedullary hematopoiesis, Persistence of... ORPHA:231214
Mullerian Aplasia And Hyperandrogenism
Aplasia of the fallopian tube, Aplasia of the vagina, Aplasia of the uterus, Primary amenorrhea, ... OMIM:158330
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Focal Segmental Glomerulosclerosis 6
Hypoalbuminemia OMIM:614131
Nephrotic Syndrome, Type 9
Hypoalbuminemia OMIM:615573
Peripheral Primitive Neuroectodermal Tumor
Precocious puberty, Lower limb muscle weakness, Pelvic mass, Ascites, Anorexia, Nausea and vomiti... ORPHA:370348
Mosaic Variegated Aneuploidy Syndrome 1
Low-set ears, Multicystic kidney dysplasia, Bifid scrotum, Cryptorchidism, Nephroblastoma, Agenes... OMIM:257300
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Pneumonia, Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber split... OMIM:253700
Aicardi-Goutieres Syndrome 4
Low-set ears, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebr... OMIM:610333
Diabetes And Deafness, Maternally Inherited
Hyperglycemia, Type II diabetes mellitus, Cardiomyopathy, Sensorineural hearing impairment OMIM:520000
Thrombocytopenia 5
Epistaxis, Increased mean corpuscular volume, B Acute Lymphoblastic Leukemia, Neutropenia, Thromb... OMIM:616216
Carpenter Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Shallow acetabular fossae, Genu valg... OMIM:201000
Spastic Paraplegia 7, Autosomal Recessive
Optic atrophy, Memory impairment, Hearing impairment, Lower limb muscle weakness, Urinary bladder... OMIM:607259
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Colitis, Skin rash, Ileal ulcer, Anterior uveitis OMIM:616744
Lujo Hemorrhagic Fever
Mental deterioration, Diarrhea, Periorbital edema, Cerebral edema, Dysphagia, Shock, Renal insuff... ORPHA:319213
Erythrocytosis, Familial, 3
Increased circulating hemoglobin concentration, Increased hematocrit, Increased red blood cell mass OMIM:609820
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Hypoalbuminemia, Hypercholesterolemia ORPHA:94124
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia OMIM:614652
Glut1 Deficiency Syndrome 2
Cerebral atrophy, Splenomegaly, Reticulocytosis, Irritability, Hemolytic anemia OMIM:612126
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Recurrent pneumonia, Abnormal CD4:CD8 ratio, Splenomegaly, Abscess, Lymphadenopathy, Neutropenia,... OMIM:150550
Dyskeratosis Congenita, X-Linked
Pancytopenia, Cryptorchidism, Hodgkin lymphoma, Acute myeloid leukemia, Cirrhosis, Anal mucosal l... OMIM:305000
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal T cell count, Elevated circulating hepatic transaminase concentration, Lymphadenitis, Ly... ORPHA:331206
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults
Acute myeloid leukemia, Neutropenia OMIM:607847
Seckel Syndrome 1
Ivory epiphyses, Clitoral hypertrophy, Sandal gap, Hypoplasia of proximal radius, Elbow flexion c... OMIM:210600
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Precocious puberty, Increased circulating prolactin concentration, Hypopituitarism, Decreased res... ORPHA:91354
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Hypoglycemia, Large for gestational age, Obesity, Fasting hypoglycemia, Truncal obesity, Polyhydr... OMIM:240900
Noonan Syndrome 8
Low-set ears, Eczematoid dermatitis, Failure to thrive, Hypertrophic cardiomyopathy, Large for ge... OMIM:615355
Frasier Syndrome
Streak ovary, Ambiguous genitalia, male, Male pseudohermaphroditism, Gonadal dysgenesis with fema... ORPHA:347
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Roifman Syndrome
Recurrent pneumonia, Eczematoid dermatitis, Recurrent otitis media, Splenomegaly, Hip contracture... OMIM:616651
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Hypoalbuminemia, Hypercholesterolemia OMIM:607250
Adult-Onset Autosomal Dominant Leukodystrophy
Aspiration pneumonia, Autonomic bladder dysfunction, Sensorineural hearing impairment, Cognitive ... ORPHA:99027
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Optic atrophy, Cardiomyopathy, Renal insufficiency, Splenomegaly, Hepatomegaly, Pancreatitis, Thr... ORPHA:79312
Alagille Syndrome
Short distal phalanx of finger, Micrognathia, Cryptorchidism, Hypoplasia of the ulna, Clinodactyl... ORPHA:52
Cernunnos-Xlf Deficiency
Lymphopenia, Thrombocytopenia, B lymphocytopenia, Anemia, T lymphocytopenia ORPHA:169079
Familial Partial Lipodystrophy, Dunnigan Type
Congestive heart failure, Hypertrophic cardiomyopathy, Hepatic steatosis, Splenomegaly, Dysmenorr... ORPHA:2348
Classic Hodgkin Lymphoma
Bone marrow hypocellularity, Lymphoma, Neoplasm, Splenomegaly, Skin rash, Lymphadenopathy, Hyperh... ORPHA:391
Magel2-Related Prader-Willi-Like Syndrome
Small hand, Xerostomia, Absence of pubertal development, Type II diabetes mellitus, Cryptorchidis... ORPHA:398069
Glycogen Storage Disease Ic
Focal segmental glomerulosclerosis, Spider hemangioma, Inflammation of the large intestine, Recur... OMIM:232240
Temple Syndrome
Precocious puberty, Bifid uvula, Small hand, Clinodactyly, Maturity-onset diabetes of the young, ... OMIM:616222
Hirschsprung Disease, Susceptibility To, 1
Abnormal enteric ganglion morphology, Vomiting, Aganglionic megacolon, Constipation, Enterocoliti... OMIM:142623
H Syndrome
Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Recurrent pha... ORPHA:168569
Osteopetrosis, Autosomal Recessive 4
Optic atrophy, Splenomegaly, Reticulocytosis, Hepatomegaly, Optic disc pallor, Osteopetrosis, Thr... OMIM:611490
Tyrosinemia Type 1
Generalized aminoaciduria, Acute hepatic failure, Rickets of the lower limbs, Splenomegaly, Hepat... ORPHA:882
Bone Marrow Failure Syndrome 6
Osteopenia, Increased mean corpuscular volume, Persistence of hemoglobin F, Lymphopenia, Neutrope... OMIM:618849
Immunodeficiency 22
Recurrent upper respiratory tract infections, Diarrhea, Failure to thrive, Protracted diarrhea, A... OMIM:615758
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia, Myelodysplasia OMIM:252270
X-Linked Intellectual Disability, Cilliers Type
Male hypogonadism, Absence of secondary sex characteristics, Decreased testicular size, Decreased... ORPHA:163971
48,Xxxy Syndrome
Tall stature, Type II diabetes mellitus, Cryptorchidism, Talipes equinovarus, Radioulnar synostos... ORPHA:96263
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Congenital senso... OMIM:617872
Isolated Permanent Neonatal Diabetes Mellitus
Moderate albuminuria, Neonatal insulin-dependent diabetes mellitus, Ketonuria, Glycosuria, Pancre... ORPHA:99885
Xq28 (MECP2) duplication
Gastroesophageal reflux, Functional abnormality of the bladder, Failure to thrive, Feeding diffic... DECIPHER:45
Anemia, Nonspherocytic Hemolytic, Possibly Due To Defect In Porphyrin Metabolism
Jaundice, Elevated urinary delta-aminolevulinic acid, Splenomegaly, Nonspherocytic hemolytic anemia OMIM:206400
Congenital Factor Xiii Deficiency
Epistaxis, Hepatic failure, Myeloid leukemia, Cerebral hemorrhage, Intramuscular hematoma, Joint ... ORPHA:331
Majeed Syndrome
Inflammatory abnormality of the skin, Abnormal bone marrow cell morphology, Osteomyelitis, Leukoc... ORPHA:77297
Bardet-Biedl Syndrome 9
Irregular menstruation, Postaxial foot polydactyly, Hyperglycemia, Obesity, Renal insufficiency, ... OMIM:615986
Inflammatory Bowel Disease (Crohn Disease) 30
Protein-losing enteropathy, Vomiting, Esophagitis, Pancolitis, Duodenitis, Ileitis, Abnormal inte... OMIM:619079
Cirrhosis, Familial
Increased level of L-fucose in urine, Biliary cirrhosis, Micronodular cirrhosis, Ascites, Cirrhos... OMIM:215600
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Small hand, Hearing impairment, Aspiration pneumonia, Hyperglycemia, Sensorineural hearing impair... ORPHA:444077
Spastic Paraplegia 8, Autosomal Dominant
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary incontinence, Dysphagi... OMIM:603563
X-Linked Immunoneurologic Disorder
Recurrent respiratory infections, Abnormal pleura morphology, Functional abnormality of the bladd... ORPHA:2571
Neutropenia, Severe Congenital, X-Linked
Eczematoid dermatitis, Decreased CD4:CD8 ratio, Neutropenia, Bone marrow arrest at the promyelocy... OMIM:300299
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
22Q11.2 Deletion Syndrome
Low-set ears, Hearing impairment, Cryptorchidism, Ventricular septal defect, Arachnodactyly, Tali... ORPHA:567
Congenital Analbuminemia
Hypoalbuminemia, Obesity, Hyperlipidemia, Lipodystrophy, Hypercholesterolemia, Hypoproteinemia, S... ORPHA:86816
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Ambiguous genitalia, female, Fused labia minora, Increased size of the clitoris, Primary amenorrhea ORPHA:2975
Donohue Syndrome
Postprandial hyperglycemia, Precocious puberty, Hepatic fibrosis, Long penis, Low-set ears, Skele... OMIM:246200
Bardet-Biedl Syndrome 1
Postaxial foot polydactyly, Hearing impairment, Abnormality of the kidney, Foot polydactyly, High... OMIM:209900
Alpha-Thalassemia
Cholelithiasis, Extramedullary hematopoiesis, Congestive heart failure, Microcytic anemia, Hemogl... ORPHA:846
Schaaf-Yang Syndrome
Low-set ears, Small hand, Rocker bottom foot, Gastroesophageal reflux, Clinodactyly, Poor suck, H... OMIM:615547
Hyperbilirubinemia, Shunt, Primary
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Hepatomega... OMIM:237800
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Failure to thrive in infancy, Long eyelashes, Cardiomegaly, Pulmonary arterial hypertension, Hepa... OMIM:619064
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Hearing impairment, Cryptorchidism, Agenesis of corpus callosum, Hepatomegaly, Hypo... OMIM:301056
Ravine Syndrome
Anorexia, Abnormal auditory evoked potentials, Failure to thrive, Decreased body weight ORPHA:99852
Alopecia Totalis
Alopecia totalis, Type I diabetes mellitus, Inflammation of the large intestine, Alopecia of scalp ORPHA:700
Orofaciodigital Syndrome Type 10
Polysyndactyly of hallux, Radial deviation of the hand, Short tibia, Short toe, Preaxial polydact... ORPHA:2756
Sickle Cell Anemia
Splenic infarction, Cholelithiasis, Hypochromic anemia, Increased mean corpuscular volume, Pigmen... ORPHA:232
Transaldolase Deficiency
Hepatosplenomegaly, Telangiectasia, Cirrhosis, Thrombocytopenia, Anemia, Abnormal clitoris morpho... ORPHA:101028
Bronchopulmonary Dysplasia
Right ventricular failure, Atelectasis, Emphysema, Right ventricular hypertrophy, Abnormal lung m... ORPHA:70589
Bone Marrow Failure And Diabetes Mellitus Syndrome
Type I diabetes mellitus, Pancytopenia, T-cell acute lymphoblastic leukemias, Increased mean corp... OMIM:620044
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased circulating cortisol level, Increased urinary cortisol level, Hepatic steatosis, Increa... ORPHA:189427
Cinca Syndrome
Hearing impairment, Pseudopapilledema, Leukocytosis, Splenomegaly, Sensorineural hearing impairme... ORPHA:1451
Transaldolase Deficiency
Low-set ears, Hepatic fibrosis, Clitoral hypertrophy, Micronodular cirrhosis, Decreased liver fun... OMIM:606003
Osteopetrosis, Autosomal Dominant 3
Hyperparathyroidism, Osteopenia, Splenomegaly, Hepatomegaly, Anemia, Recurrent fractures OMIM:618107
Gamma-Heavy Chain Disease
Rheumatoid arthritis, Abnormal bone marrow cell morphology, Abnormal lymphocyte morphology, Splen... ORPHA:100026
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Low-set, posteriorly rotated ears, Abnor... ORPHA:1035
Adult-Onset Still Disease
Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentration, Hepatitis, ... ORPHA:829
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Cirrhosis, Polycythemia, Facial telangiectasia, Cerebral hemorrhage,... OMIM:600376
Gitelman Syndrome
Diarrhea, Type II diabetes mellitus, Nausea and vomiting, Rhabdomyolysis, Parathyroid adenoma, Ur... ORPHA:358
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Celiac Disease, Susceptibility To, 1
Type I diabetes mellitus, Depression, Rickets, Eczematoid dermatitis, Lymphoma, Elevated circulat... OMIM:212750
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Micromelia, Aplasia/Hypoplasia involving the pelvis, Abnormal tibi... ORPHA:2879
Anemia, Hypochromic Microcytic, With Iron Overload 2
Hypogonadism, Sideroblastic anemia, Azoospermia, Splenomegaly, Hepatomegaly, Hypochromia, Poikilo... OMIM:615234
Omenn Syndrome
Pneumonia, Lymphoma, Abnormal lymphocyte morphology, Leukocytosis, Splenomegaly, Hepatomegaly, Eo... ORPHA:39041
Mucopolysaccharidosis-Plus Syndrome
Neutropenia, Hepatomegaly, Nephrotic syndrome, Macrovesicular hepatic steatosis, Patent ductus ar... OMIM:617303
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly, Hyperhidrosis, Sparse hair, Macrotia, Syndactyly OMIM:613576
Fanconi Anemia, Complementation Group D1
Acute myeloid leukemia, Bone marrow hypocellularity, T-cell acute lymphoblastic leukemias OMIM:605724
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Generalized amyotrophy, Hepatic failure, Skeletal muscle atrophy, Micronodular cirrhosis, Hearing... OMIM:301072
Lymphoproliferative Syndrome 1
Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion of CD4-positive helper T cells, ... OMIM:613011
Morbid Obesity And Spermatogenic Failure
Insulin resistance, Congestive heart failure, Obesity, Azoospermia, Type II diabetes mellitus, He... OMIM:615703
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
High, narrow palate, Red-brown urine, Hepatic failure, Cardiomyopathy, Dicarboxylic aciduria, Hyp... ORPHA:228308
Dubowitz Syndrome
Eczematoid dermatitis, Lymphoma, Hearing impairment, Abnormal female external genitalia morpholog... ORPHA:235
Sézary Syndrome
Neoplasm of the skin, Skeletal muscle atrophy, Palmoplantar keratoderma, Lymphoma, Abnormal pleur... ORPHA:3162
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of somatosenso... ORPHA:320401
Ciliary Dyskinesia, Primary, 53
Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Cardiomegaly, Pulmonary arterial hype... OMIM:620642
Legius Syndrome
Acute monocytic leukemia, Male urethral meatus stenosis, Hearing impairment, Short attention span... ORPHA:137605
Perrault Syndrome 1
Increased circulating gonadotropin level OMIM:233400
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Decreased helper T cell proportion, Pancytopenia, Splenomegaly, Hypersplenism OMIM:183350
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Female hypogonadism, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Chronic mucocut... OMIM:240300
Mayer-Rokitansky-Küster-Hauser Syndrome
Ectopic ovary, Aplasia of the ovary, Endometriosis, Aplasia of the uterus, Dyspareunia, Primary a... ORPHA:3109
Gm1-Gangliosidosis, Type Ii
Optic atrophy, Cerebral atrophy, Progressive psychomotor deterioration, Sea-blue histiocytosis, J... OMIM:230600
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Low-set ears, Metaphyseal cupping, Micromelia, Wide distal femor... OMIM:613320
Primary Biliary Cholangitis
Hepatic fibrosis, Hepatic failure, Biliary cirrhosis, Hepatitis, Celiac disease, Steatorrhea, Asc... ORPHA:186
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Splenomegaly, Hepatomegaly, Osteopetrosis, Thrombocytopenia, Anemia, Facial palsy OMIM:615085
Sea-Blue Histiocyte Disease
Sea-blue histiocytosis, Elevated circulating aspartate aminotransferase concentration, Splenomega... OMIM:269600
Silver-Russell Syndrome
Premature adrenarche, Low-set ears, Decreased muscle mass, Recurrent hypoglycemia, Cryptorchidism... ORPHA:813
Akt2-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:79085
Familial Cold Autoinflammatory Syndrome 2
Leukocytosis, Skin rash, Splenomegaly, Sensorineural hearing impairment, Lymphadenopathy, Erythem... OMIM:611762
Dyskeratosis Congenita
Hearing impairment, Displacement of the urethral meatus, Cirrhosis, Hepatomegaly, Coarse metaphys... ORPHA:1775
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Palpitations, Abnormal cardiovascular system physiology, Pulmonary arter... ORPHA:422
Congenital Disorder Of Glycosylation, Type Ig
Short tibia, Cryptorchidism, Sensorineural hearing impairment, Talipes equinovarus, Micropenis, H... OMIM:607143
Brucellosis
Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Hepatome... ORPHA:1304
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Inflammatory abnormality of the skin, Ventricular septal defect, Arrhythmia, Atrial septal defect... ORPHA:26793
Lethal Congenital Contracture Syndrome 10
Low-set ears, Increased variability in muscle fiber diameter, Narrow palate, Overlapping fingers,... OMIM:617022
Mohr-Tranebjaerg Syndrome
Mental deterioration, Optic atrophy, Prelingual sensorineural hearing impairment, Abnormality of ... ORPHA:52368
Dohle Bodies And Leukemia
Anemia, Acute myeloid leukemia, Leukocyte inclusion bodies OMIM:223350
Anemia, Congenital Dyserythropoietic, Type Ib
Erythroid hyperplasia, Splenomegaly, Anemia of inadequate production, Anisocytosis, Reticulocytos... OMIM:615631
Galloway-Mowat Syndrome 8
Hypoalbuminemia, Enamel hypoplasia OMIM:618349
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Cryptorchidism, Congenital diaphragmatic hernia, Weight loss, High pal... ORPHA:251071
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Hypogonadism, Decreased testicular size, Azoospermia, Cryptorchidism, Primary amenorrhea, Micropenis OMIM:614897
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... ORPHA:486815
Propionic Acidemia
Hyperglycinuria, Eczematoid dermatitis, Cardiomyopathy, Increased level of hippuric acid in urine... OMIM:606054
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Erythema nodosum, Hepatome... OMIM:615688
Autoinflammation, Immune Dysregulation, And Eosinophilia
Atopic dermatitis, Failure to thrive, Hepatosplenomegaly, Hepatic cysts, Colonic eosinophilia, Hy... OMIM:618999
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Decreased serum estradiol, Elevated circulating luteinizing hormone level, Primary gonadal insuff... ORPHA:90796
Ziegler-Huang Syndrome
Hypogonadism, Elevated circulating follicle stimulating hormone level, Cryptorchidism, Anterior p... OMIM:620501
Immunodeficiency 37
Colitis, Infectious encephalitis OMIM:616098
46,Xx Sex Reversal 2
Decreased serum testosterone concentration, Elevated circulating luteinizing hormone level, Eleva... OMIM:278850
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Obesity, Ty... OMIM:619326
Temple Syndrome
Precocious puberty, Bifid uvula, Small hand, Recurrent hypoglycemia, Decreased response to growth... ORPHA:254516
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3
Low-set ears, Abnormal B cell morphology, Conductive hearing impairment, Recurrent otitis media, ... OMIM:616910
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Anemia, Splenomegaly, Thrombocytopenia, Abnormal hemoglobin ORPHA:231393
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricuspid regurgitation, Crohn's disea... OMIM:619705
Anemia, Congenital Dyserythropoietic, Type Iv
Hypospadias, Increased RBC distribution width, Persistence of hemoglobin F, Hypertrophic cardiomy... OMIM:613673
Immunodeficiency 54
Reduced natural killer cell count, Lymphoproliferative disorder, Adrenal insufficiency, Splenomeg... OMIM:609981
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc... ORPHA:268
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Aortic valve stenosis, Low-set ears, Chylothorax, Juvenile myelomonocytic leukemia, Hepatosplenom... OMIM:613563
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, G... ORPHA:2790
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyo... OMIM:618052
Distal 16P11.2 Microdeletion Syndrome
Chronic kidney disease, Renal agenesis, Obesity, Vesicoureteral reflux, Chronic constipation, Low... ORPHA:261222
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Elevated circulating growth hormone concentration, Polycystic ovaries ORPHA:90301
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Postprandial hyperglycemia, Precocious puberty, Long penis, Insulin-resistant diabetes mellitus, ... OMIM:262190
Leukemia, Acute Myelocytic, With Polyposis Coli And Colon Cancer
Colon cancer, Acute myeloid leukemia, Adenomatous colonic polyposis OMIM:246470
Galactosemia I
Aminoaciduria, Galactosuria, Decreased liver function, Elevated circulating aspartate aminotransf... OMIM:230400
Neurooculocardiogenitourinary Syndrome
Low-set ears, Bilateral cryptorchidism, Tricuspid regurgitation, Patent foramen ovale, Sensorineu... OMIM:618652
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Abnormal pulmonary interstitial morphology, Atelectasis... ORPHA:2302
Combined Immunodeficiency And Megaloblastic Anemia With Or Without Hyperhomocysteinemia
Hypersegmentation of neutrophil nuclei, Lymphopenia, Pancytopenia, Anemia of inadequate productio... OMIM:617780
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Acute kidney injury, Diarrhea, Vomiting, Anuria, Bloody diarrhea, Acute colitis, Rectal prolapse,... ORPHA:90038
Spastic Paraplegia 4, Autosomal Dominant
Urinary incontinence, Memory impairment, Lower limb muscle weakness, Urinary bladder sphincter dy... OMIM:182601
Cutaneous Neuroendocrine Carcinoma
Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Chronic noninfectious lymphadenop... ORPHA:79140
Severe Combined Immunodeficiency, X-Linked
Pneumonia, Recurrent pneumonia, Skin rash, Hypoplasia of the thymus, Impaired lymphocyte transfor... OMIM:300400
Cholestasis, Progressive Familial Intrahepatic, 5
Hepatic failure, Failure to thrive, Hypoglycemia, Ascites, Pleural effusion, Nonimmune hydrops fe... OMIM:617049
Idiopathic Pulmonary Hemosiderosis
Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Failure to thrive, Hepatospleno... ORPHA:99931
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Polycystic ovaries, Ventricular septal defect, Pulmonary edema, H... ORPHA:137675
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Elevated circulating luteinizing hormone level, Female infertility, Lacrimal gland hypoplasia, St... ORPHA:572333
Chronic Visceral Acid Sphingomyelinase Deficiency
Osteopenia, Cholelithiasis, Depression, Hepatic failure, Abnormal pulmonary interstitial morpholo... ORPHA:77293
Intermediate Osteopetrosis
Cortical sclerosis, Cranial nerve compression, Osteomyelitis, Hepatosplenomegaly, Recurrent fract... ORPHA:210110
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Paradoxical splitting of the second heart sound, Atrial flutter, ... ORPHA:99105
Immunodeficiency 19
Abnormal B cell morphology, Abnormal natural killer cell morphology, Recurrent otitis media, Recu... OMIM:615617
Refsum Disease, Classic
Cardiomyopathy, Congestive heart failure, Limb muscle weakness, Sensorineural hearing impairment,... OMIM:266500
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Premature adrenarche, Clinodactyly, Decreased muscle mass, Esophagitis, Cryptorchidism, Feeding d... ORPHA:96182
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Neutrophilia, Elevated circulating hepatic transaminase concentration, Brain abscess, Abnormal ly... ORPHA:54251
Immunodeficiency 7
Recurrent otitis media, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenop... OMIM:615387
19P13.12 Microdeletion Syndrome
Low-set ears, Finger syndactyly, Cryptorchidism, Hepatic steatosis, Mitral regurgitation, General... ORPHA:254346
Immunodeficiency 16
Pancytopenia, Coombs-positive hemolytic anemia, Splenomegaly, Kaposi's sarcoma OMIM:615593
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Abnormality of the ureter,... ORPHA:798
Immunodeficiency 13
Lymphopenia, Decreased CD4:CD8 ratio, Decreased proportion of CD4-positive helper T cells, B lymp... OMIM:615518
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Hypoplastic ilia, Micromelia, Short ribs, Postaxial polydactyly, Ambiguous genitalia, Brachydacty... OMIM:617895
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Cryptorchidi... OMIM:276820
Mixed Connective Tissue Disease
Nephropathy, Mediastinal lymphadenopathy, Gastrointestinal hemorrhage, Leukopenia, Pleuritis, Joi... ORPHA:809
Attrv122I Amyloidosis
Aortic valve stenosis, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, Congesti... ORPHA:85451
Roberts Syndrome
Clitoral hypertrophy, Synostosis of carpal bones, Finger syndactyly, Micrognathia, Cryptorchidism... ORPHA:3103
Ciliary Dyskinesia, Primary, 34
Immotile sperm, Male infertility OMIM:617091
Hyperostosis Corticalis Generalisata
Cranial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearing impairment, Genera... ORPHA:3416
Microgastria-Limb Reduction Defect Syndrome
Multicystic kidney dysplasia, Abnormality of the spleen, Esophagitis, Perineal fistula, Renal hyp... ORPHA:2538
Gaucher Disease, Type Iii
Progressive neurologic deterioration, Depression, Dementia, Pancytopenia, Splenomegaly, Thrombocy... OMIM:231000
Bardet-Biedl Syndrome 4
Hypogonadism, Obesity, Cryptorchidism, Polydactyly, Renal cyst, Brachydactyly, Abnormality of the... OMIM:615982
Acute Promyelocytic Leukemia
Epistaxis, Diffuse alveolar hemorrhage, Vertigo, Pancytopenia, Leukopenia, Leukocytosis, Metrorrh... ORPHA:520
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Thin metacarpal cortices, Thin metatarsal cortices, Hypoplasia of the musculature, Slender long b... ORPHA:2463
Congenital Factor Vii Deficiency
Menorrhagia, Ovarian cyst ORPHA:327
9Q31.1Q31.3 Microdeletion Syndrome
Aortic regurgitation, Highly arched eyebrow, Small hand, Dilated cardiomyopathy, Type II diabetes... ORPHA:401923
Intellectual Developmental Disorder, X-Linked 112
Enuresis nocturna, Enuresis, Cupped ear, Dilatation of the renal pelvis, Gastroesophageal reflux,... OMIM:301111
Mismatch Repair Cancer Syndrome 1
Basal cell carcinoma, Adenocarcinoma of the colon, T-cell lymphoma, Lymphoma, Oligodendroglioma, ... OMIM:276300
Farber Lipogranulomatosis
Osteolysis involving bones of the feet, Splenomegaly, Irritability, Lipogranulomatosis, Osteolyti... OMIM:228000
Hydrocephalus-Obesity-Hypogonadism Syndrome
High, narrow palate, Obesity, Azoospermia, Mitral valve prolapse, Low posterior hairline, Short 4... ORPHA:2183
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Howell-Jolly bodies, Depression, Cerebellar atrophy, Organic aciduria, Dementia, Sideroblastic an... OMIM:301310
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Mental deterioration, Undetectable visual evoked potentials, Ventricular hypertrophy, Hypertrophi... OMIM:619051
Beta-Thalassemia, Dominant Inclusion Body Type
Persistence of hemoglobin F, Microcytic anemia, Splenomegaly, Erythrocyte inclusion bodies, Hepat... OMIM:603902
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Talipes equi... ORPHA:261494
Fixed Subaortic Stenosis
Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus,... ORPHA:3092
Cockayne Syndrome Type 1
Optic atrophy, Male hypogonadism, Diarrhea, Foot joint contracture, Hearing impairment, Failure t... ORPHA:90321
Noonan Syndrome 7
Low-set ears, Hypertrophic cardiomyopathy, Large earlobe, Large for gestational age, Low posterio... OMIM:613706
Cerebrotendinous Xanthomatosis
Tendon xanthomatosis, Abnormal motor evoked potentials, Abnormal tibia morphology, Cognitive impa... ORPHA:909
Myotubular Myopathy With Abnormal Genital Development
Centrally nucleated skeletal muscle fibers, Atelectasis, Bilateral cryptorchidism, Glandular hypo... OMIM:300219
Chromosome 16P13.3 Deletion Syndrome, Proximal
Hypoplastic left heart, Facial hypertrichosis, Broad thumb, Broad hallux, Polysplenia, Failure to... OMIM:610543
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Telangie... OMIM:187300
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Low-set ears, Abnormal social behavior ORPHA:436151
Cockayne Syndrome A
Dry hair, Square pelvis bone, Hypoplastic iliac wing, Cryptorchidism, Hip contracture, Sensorineu... OMIM:216400
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Gastroesophageal reflux, Vomiting, Failure to thrive, Atelectasis, Abnormal pulmonary interstitia... OMIM:620233
Relapsing Polychondritis
Sensorineural hearing impairment, Hematuria, Scleritis, Inflammatory abnormality of the eye, Alop... ORPHA:728
Alg6-Cdg
Hypoalbuminemia, Decreased LDL cholesterol concentration, Failure to thrive ORPHA:79320
Cinca Syndrome
Hearing impairment, Progressive sensorineural hearing impairment, Hepatosplenomegaly, Leukocytosi... OMIM:607115
Acrodysostosis 2 With Or Without Hormone Resistance
Cone-shaped epiphysis, Fair hair, Congenital hypothyroidism, Obesity, Cryptorchidism, Brachydacty... OMIM:614613
Congenital Generalized Lipodystrophy
Clitoral hypertrophy, Precocious puberty in females, Overgrowth of external genitalia, Hypertroph... ORPHA:528
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells, Recurrent respiratory infect... OMIM:615206
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Failure to thrive, Hypoglycemia, Congestive heart failure, Cholestasis, Ascites,... OMIM:617156
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Macroglossia, Oligosacchariduria, Hearing impairment, Failure to thrive, Hypertrophic cardiomyopa... ORPHA:308552
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial... OMIM:306955
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Hepatic steatosis, Myopathy, Dysmenorrhea, Polycystic ovaries, Proximal upper limb muscle hypertr... ORPHA:280365
Muckle-Wells Syndrome
Nephropathy, Vasculitis, Optic atrophy, Progressive sensorineural hearing impairment, Camptodacty... ORPHA:575
Pheochromocytoma/Paraganglioma Syndrome 1
Elevated circulating catecholamine level, Vagal paraganglioma, Chemodectoma, Carotid paragangliom... OMIM:168000
Immunodeficiency 82 With Systemic Inflammation
Anoperineal fistula, Pustular rash, Osteomalacia, Recurrent otitis media, Follicular hyperplasia,... OMIM:619381
Danon Disease
Skeletal muscle autophagosome accumulation, Atrioventricular block, Dilated cardiomyopathy, Secon... OMIM:300257
Turcot Syndrome With Polyposis
Glioma, Hearing impairment, Hepatoblastoma, Brain neoplasm, Desmoid tumors, Basal cell carcinoma,... ORPHA:99818
Agammaglobulinemia 3, Autosomal Recessive
Recurrent otitis media, Recurrent bronchitis, Absent circulating B cells, Neutropenia, Abnormal T... OMIM:613501
Congenital Rubella Syndrome
Type I diabetes mellitus, Splenomegaly, Abnormality of the pulmonary artery, Skin rash, Sensorine... ORPHA:290
Combined Oxidative Phosphorylation Deficiency 33
Cardiomyopathy, EEG with burst suppression, Oligohydramnios, Myopathy, Sensorineural hearing impa... OMIM:617713
Avian Influenza
Hypoalbuminemia, Lymphopenia, Leukopenia, Elevated circulating creatine kinase concentration, Thr... ORPHA:454836
Staphylococcal Necrotizing Pneumonia
Pneumonia, Hypotension, Shock, Confusion, Leukopenia, Leukocytosis, Pleural effusion, Increased c... ORPHA:36238
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal amyotrophy, Decreased motor ne... OMIM:601596
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Macrotia, Congestive heart failure OMIM:300886
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Nephrocalcinosis, Postprandial hyperglycemia, Hepatic fai... ORPHA:2088
Glutamate-Cysteine Ligase Deficiency
Aminoaciduria, Hepatosplenomegaly, Reticulocytosis, Myopathy, Jaundice, Hemolytic anemia ORPHA:33574
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, R... ORPHA:79303
Xfe Progeroid Syndrome
Optic atrophy, Hearing impairment, Failure to thrive, Ascites, Renal insufficiency, Proteinuria, ... OMIM:610965
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Overlapping toe, Larg... ORPHA:96149
Primary Membranoproliferative Glomerulonephritis
Hypoalbuminemia ORPHA:54370
Whipple Disease
Gastrointestinal hemorrhage, Depression, Hypotension, Pleuritis, Splenomegaly, Myositis, Hepatome... ORPHA:3452
Sickle Cell Disease
Splenic infarction, Cholelithiasis, Priapism, Increased red cell sickling tendency, Leukocytosis,... OMIM:603903
Spastic Paraplegia 84, Autosomal Recessive
Ankle flexion contracture, Leg muscle stiffness, Lower limb muscle weakness, Hip contracture, Kne... OMIM:619621
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism, Male infertility ORPHA:2239
Sclerosteosis
Optic atrophy, Craniofacial hyperostosis, Abnormal cortical bone morphology, Sensorineural hearin... ORPHA:3152
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Broad finger, Long eyelashes, Skin rash, Low posterior hairl... OMIM:617523
Infantile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Optic atrophy, ... ORPHA:206436
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Wolfram Syndrome
Nephropathy, Abnormal mesentery morphology, Myopathy, Sensorineural hearing impairment, Feeding d... ORPHA:3463
Hypoplasminogenemia
Abnormality of the ovary, Abnormal fallopian tube morphology, Cervicitis ORPHA:722
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Abnormally low T cell receptor excision circle level, Recurrent respiratory infections, Cervical ... OMIM:618987
Roberts-Sc Phocomelia Syndrome
Clitoral hypertrophy, Clinodactyly, Enlarged labia minora, Micrognathia, Cryptorchidism, Abnormal... OMIM:268300
Pheochromocytoma/Paraganglioma Syndrome 3
Elevated circulating catecholamine level, Extraadrenal pheochromocytoma, Chemodectoma, Adrenal ph... OMIM:605373
Thrombotic Thrombocytopenic Purpura
Acute kidney injury, Microangiopathic hemolytic anemia, Confusion, Renal insufficiency, Reticuloc... ORPHA:54057
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Recurrent otitis media, Decreased CD4:CD8 ratio, Splenomegaly, Autoimmune hemolytic anemia, Lymph... OMIM:618495
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Aortic valve stenosis, Atrial flutter, Contractures of the large joints, Congestive heart failure... ORPHA:324410
Osteochondrosis Of The Metatarsal Bone
Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone ORPHA:564003
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Sparse eyebrow, Mild hearing impairment, Attenti... ORPHA:459061
Prolactinoma
Irregular menstruation, Secondary growth hormone deficiency, Male hypogonadism, Hypogonadism, Abn... ORPHA:2965
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea OMIM:614839
Sheehan Syndrome
Central adrenal insufficiency, Sensorineural hearing impairment, Decreased serum estradiol, Spars... ORPHA:91355
Immunodeficiency 62
Decreased proportion of memory B cells, Recurrent upper respiratory tract infections, Increased p... OMIM:618459
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia o... ORPHA:3186
Immunodeficiency 57 With Autoinflammation
Inflammation of the large intestine, Diarrhea, Failure to thrive, Skin rash, Perianal abscess, Ga... OMIM:618108
Osteopetrosis, Autosomal Recessive 5
Extramedullary hematopoiesis, Hepatosplenomegaly, Pancytopenia, Hepatomegaly, Optic disc pallor, ... OMIM:259720
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Feeding difficulties, Hepatic steatosis, 3-Methyl... ORPHA:17
Caspase 8 Deficiency
Pneumonia, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Splenomegaly, Recurrent sinopulmonary ... OMIM:607271
Autosomal Dominant Spastic Paraplegia Type 13
Hearing impairment, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary in... ORPHA:100994
Galactokinase Deficiency
Increased level of galactitol in urine, Hepatosplenomegaly, Hyperinsulinemia, Sensorineural heari... ORPHA:79237
Noonan Syndrome 2
Low-set ears, Cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Mitral stenosis, Pulmo... OMIM:605275
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Periostitis, Osteopenia, Osteomyelitis, Splenomegaly, Abscess, Skin rash, Pustule, Neutrophilia, ... OMIM:612852
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus ca... ORPHA:166024
Autoinflammation With Episodic Fever And Lymphadenopathy
Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Lymphadenopathy, Hepatomegaly OMIM:618852
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Hyperglycemia, Absent gallbladder, Congenital diaphragmatic her... OMIM:600001
Galloway-Mowat Syndrome 6
Hypoalbuminemia, Decreased body weight OMIM:618347
Beckwith-Wiedemann Syndrome
Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Adrenocortical cytomegaly, Renal cortic... OMIM:130650
Prader-Willi Syndrome
Small hand, Clinodactyly, Decreased muscle mass, Hyperinsulinemia, Genu valgum, Frontal upsweep o... OMIM:176270
Plague
Inflammation of the large intestine, Diarrhea, Lymphadenitis, Hearing impairment, Ileitis, Arrhyt... ORPHA:707
Autoimmune Disease, Multisystem, Infantile-Onset, 3
Abnormal T cell count, Type I diabetes mellitus, Hepatic hemophagocytosis, Recurrent otitis media... OMIM:620430
Chronic Thromboembolic Pulmonary Hypertension
Inflammation of the large intestine, Right ventricular failure, Pulmonary embolism, Congestive he... ORPHA:70591
Sarcoidosis, Susceptibility To, 2
Bronchiectasis, Emphysema, Pleural effusion, Splenomegaly, Pulmonary arterial hypertension, Pneum... OMIM:612387
Nut Midline Carcinoma
Ewing sarcoma, Neoplasm, Pancreatoblastoma, Oropharyngeal squamous cell carcinoma, Squamous cell ... ORPHA:443167
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepatosplenomegal... ORPHA:247598
Transcobalamin Deficiency
Lymphopenia, Pancytopenia, Thrombocytopenia, Neutropenia ORPHA:859
Radial Ray Hypoplasia With Choanal Atresia
Hypoplasia of the radius, Distally placed thumb, Short thumb, Small thenar eminence OMIM:179270
Multiple Osteochondromas
Limitation of joint mobility, Abnormal tibia morphology, Limited hip movement, Abnormal hand morp... ORPHA:321
Obesity Due To Sim1 Deficiency
Hypotension, Memory impairment, Postural hypotension with compensatory tachycardia, Hyperinsuline... ORPHA:369873
49,Xxxyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:261534
Pituitary Gigantism
Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Pituitary growth... ORPHA:99725
Alveolar Echinococcosis
Pulmonary cyst, Abnormal mesentery morphology, Abnormal spleen morphology, Abnormality of the dia... ORPHA:284
Williams Syndrome
Genu valgum, Type II diabetes mellitus, Cryptorchidism, Mitral regurgitation, Polycystic ovaries,... ORPHA:904
Congenital Disorder Of Glycosylation, Type Iic
Pneumonia, Reduction of neutrophil motility, Cerebral cortical atrophy, Bronchiolitis, Recurrent ... OMIM:266265
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Pustular rash, Lymphopenia, Leukopenia, Malar rash, Joint stiffness, Fol... OMIM:615934
Chromosome 2Q37 Deletion Syndrome
Highly arched eyebrow, Short toe, Eczematoid dermatitis, Type E brachydactyly, Obesity, Sensorine... OMIM:600430
2Q37 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Toe syndactyly, Multicystic kidney dysplasia, Finger syndactyl... ORPHA:1001
Leukemia, Acute Lymphoblastic
Acute lymphoblastic leukemia OMIM:613065
Leukemia, Acute Monocytic
Acute monocytic leukemia OMIM:151380
Leukemia, Acute Myeloid
Acute myeloid leukemia OMIM:601626
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Decreased proportion of CD4+CD25+ regulatory T cells, Type I diabetes mellitus, Eczematoid dermat... OMIM:606367
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Acute hepatic failure, Hepatosplenomegaly, Hype... OMIM:278000
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Cholestasis-Lymphedema Syndrome
Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas... ORPHA:1414
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Myotonic Dystrophy 2
Hypogonadism, Palpitations, Type II diabetes mellitus, Premature ventricular contraction, Elevate... OMIM:602668
Ck Syndrome
Joint hypermobility, Posteriorly rotated ears, Abnormal cortical bone morphology, Irritability OMIM:300831
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Osteopenia, Type I diabetes mellitus, Emphysema, Lymphopenia, Squamous cell carcinoma of the skin... OMIM:620365
Metaphyseal Chondrodysplasia, Schmid Type
Radial metaphyseal irregularity, Genu varum, Obesity, Femoral bowing, Short long bone, Metaphysea... ORPHA:174
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Diarrhea, Vomiting, Methylmalonic aciduria, Hypoglycemia, Cardiomyopathy, Failure to thrive, Feed... OMIM:251000
Microcephaly-Micromelia Syndrome
Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial synostosis, Missi... OMIM:251230
Gaucher Disease, Type I
Aortic valve stenosis, Epistaxis, Pathologic fracture, Pancytopenia, Hypersplenism, Splenomegaly,... OMIM:230800
Amyloidosis, Hereditary Systemic 2
Nephropathy, Cholestasis, Skin rash, Splenomegaly, Proteinuria, Hematuria, Hepatomegaly, Nephroti... OMIM:105200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Congenital diaphragmatic hernia, Atri... OMIM:614080
Carney Triad
Gastrointestinal hemorrhage, Adrenal overactivity, Diarrhea, Adrenocortical adenoma, Ascites, Phe... ORPHA:139411
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Congenital hypothyroidism, Increased body weight, Increased T3/T4 rat... OMIM:614450
Diabetes Mellitus, Transient Neonatal, 1
Transient neonatal diabetes mellitus, Hyperglycemia, Severe failure to thrive, Dehydration OMIM:601410
Stormorken-Sjaastad-Langslet Syndrome
Anemia, Asplenia ORPHA:3204
Lipodystrophy, Congenital Generalized, Type 2
Clitoral hypertrophy, Hyperinsulinemia, Decreased fertility, Hepatic steatosis, Type II diabetes ... OMIM:269700
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Acute myeloid leu... ORPHA:124
Lipodystrophy, Familial Partial, Type 1
Insulin-resistant diabetes mellitus, Hyperglycemia, Hypertension, Hepatomegaly, Acute pancreatitis OMIM:608600
Adrenoleukodystrophy
Mental deterioration, Urinary incontinence, Alopecia, Hearing impairment, Lower limb muscle weakn... OMIM:300100
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Primum atrial septal defect, Feeding difficulties, Ab... ORPHA:1329
Niemann-Pick Disease Type C
Progressive neurologic deterioration, Mental deterioration, Fetal ascites, Hepatic failure, Heari... ORPHA:646
Familial Afibrinogenemia
Menometrorrhagia ORPHA:98880
Poikiloderma With Neutropenia
Recurrent pneumonia, Palmoplantar keratoderma, Recurrent otitis media, Leukopenia, Joint stiffnes... OMIM:604173
Obesity Due To Prohormone Convertase I Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Hypoglycemic seizures, Failure to thrive, Decreased response to growth hormone stimulation test, ... ORPHA:71526
Lethal Acantholytic Erosive Disorder
Hypovolemic shock, Abnormal helix morphology, Congenital alopecia totalis, Absent hair, Cardiomyo... ORPHA:158687
Achondrogenesis, Type Ia
Unossified vertebral bodies, Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe... OMIM:200600
Hereditary Spherocytosis
Spontaneous hemolytic crises, Cholelithiasis, Restrictive cardiomyopathy, Increased mean corpuscu... ORPHA:822
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Neuromuscular d... ORPHA:206443
Chops Syndrome
Hearing impairment, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Curly hair, ... OMIM:616368
Selective Igm Deficiency
Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T cells, Stomach cancer... ORPHA:331235
Bacterial Toxic-Shock Syndrome
Hypoalbuminemia, Cellulitis, Septic arthritis, Fasciitis, Elevated circulating creatinine concent... ORPHA:36234
Omenn Syndrome
Pneumonia, Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Hepatomegaly, Lymphadeno... OMIM:603554
Osteopetrosis, Autosomal Recessive 1
Optic atrophy, Facial paralysis, Hearing impairment, Pathologic fracture, Osteomyelitis, Pancytop... OMIM:259700
Lymphangiectasia, Intestinal
Neonatal hypoproteinemia, Lymphopenia OMIM:152800
Spastic Paraplegia 16, X-Linked
Short distal phalanx of finger, Lower limb muscle weakness, Urinary bladder sphincter dysfunction... OMIM:300266
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Short toe, Decreased testicular size, Hyperinsulinemia, Obesity, Type II diabetes mellitus, Crypt... ORPHA:3085
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, White hair, Camptodactyly of finger, Atelectasis,... ORPHA:896
Autosomal Dominant Spastic Paraplegia Type 73
Abnormal lower-limb motor evoked potentials, Distal lower limb amyotrophy, Distal lower limb musc... ORPHA:444099
Nijmegen Breakage Syndrome
Mental deterioration, Recurrent pneumonia, Acute leukemia, Glioma, Skeletal muscle atrophy, Lymph... ORPHA:647
Silver-Russell Syndrome Due To A Point Mutation
Short 5th finger, Low-set ears, Ectrodactyly, Microphallus, Hypoglycemia, Oligohydramnios, Crypto... ORPHA:397590
Diabetes Mellitus, Permanent Neonatal, 2
Hyperglycemia, Type I diabetes mellitus, Hypsarrhythmia, Flexion contracture OMIM:618856
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Osteopenia, Elevated circulating thyroid-stimulating hormone ... OMIM:242900
Rabson-Mendenhall Syndrome
Insulin-resistant diabetes mellitus, Premature graying of hair, Ventricular septal defect, Atrial... ORPHA:769
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Bone marrow hypocellularity, Recurrent upper respiratory tract infections, Megakaryocyte dysplasi... ORPHA:508542
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Increased serum estradiol... ORPHA:1501
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Precocious puberty, Bifid uvula, Small hand, Maturity-onset diabetes of the young, Clinodactyly, ... ORPHA:96184
Bohring-Opitz Syndrome
Severe failure to thrive, Feeding difficulties in infancy, Bilateral wrist flexion contracture, C... ORPHA:97297
Temple Syndrome Due To Paternal 14Q32.2 Microdeletion
Precocious puberty, Small hand, Clinodactyly, Low-set, posteriorly rotated ears, Abnormal heart m... ORPHA:254525
Urban-Rogers-Meyer Syndrome
Aplasia/Hypoplasia of the earlobes, Toe syndactyly, Abnormal epiphysis morphology, Abnormal diaph... ORPHA:3409
Congenital Disorder Of Glycosylation, Type Iie
Low-set ears, Overlapping fingers, Protruding tongue, Sensorineural hearing impairment, Hepatomeg... OMIM:608779
Fibronectin Glomerulopathy
Hypoalbuminemia ORPHA:84090
Kindler Epidermolysis Bullosa
Cheilitis, Inflammation of the large intestine, Periodontitis, Finger syndactyly, Camptodactyly o... ORPHA:2908
Spastic Paraplegia 12, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:604805
Spastic Paraplegia 20, Autosomal Recessive
Distal amyotrophy, Clinodactyly, Lower limb muscle weakness, Urinary urgency, Chronic constipatio... OMIM:275900
Cyclic Neutropenia
Periodontitis, Otitis media, Respiratory tract infection, Peritonitis, Enterocolitis, Perianal ab... ORPHA:2686
Prolidase Deficiency
Recurrent pneumonia, Eczematoid dermatitis, Elevated circulating aspartate aminotransferase conce... OMIM:170100
Osteopetrosis, Autosomal Recessive 2
Optic atrophy, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Cranial ... OMIM:259710
Gorham-Stout Disease
Osteopenia, Hearing impairment, Cortical irregularity, Osteomyelitis, Pathologic fracture, Pleura... ORPHA:73
Steinfeld Syndrome
Absent gallbladder, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypo... OMIM:184705
Autosomal Recessive Spastic Paraplegia Type 48
Urinary incontinence, Cognitive impairment, Lower limb muscle weakness, Urinary bladder sphincter... ORPHA:306511
Subaortic Stenosis-Short Stature Syndrome
Synostosis of carpal bones, Low-set, posteriorly rotated ears, Obesity, Type II diabetes mellitus... ORPHA:3191
Tenorio Syndrome
Macroglossia, Recurrent pneumonia, Gastroesophageal reflux, Hypoglycemia, Hypertrichosis, Recurre... OMIM:616260
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short distal phalanx of finger, Broad thumb, Short distal phalanx of the thumb, Short 3rd metacar... ORPHA:370010
Bardet-Biedl Syndrome 17
Postaxial foot polydactyly, Hypogonadism, Mesoaxial hand polydactyly, Obesity, Stage 5 chronic ki... OMIM:615994
Intrahepatic Cholestasis Of Pregnancy
Abnormal pineal melatonin secretion, Ascites, Cholecystitis, Abdominal pain, Hypothyroidism, Jaun... ORPHA:69665
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Inflammation of the large intestine, Dilatation of the renal pelvis, Interstitial ... OMIM:619708
Immunodeficiency 85 And Autoimmunity
Decreased proportion of memory B cells, Reduced natural killer cell count, Failure to thrive in i... OMIM:619510
Combined Immunodeficiency Due To Dock8 Deficiency
Pneumonia, Atopic dermatitis, Verrucae, Chronic otitis media, Squamous cell carcinoma of the vulv... ORPHA:217390
Fucosidosis
Low-set ears, Mental deterioration, Oligosacchariduria, Hearing impairment, Failure to thrive, Re... OMIM:230000
Autosomal Dominant Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... ORPHA:169189
Adult Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Mental deterioration, Urinary inconti... ORPHA:206448
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Insulin-resistant diabetes mellitus, Premature... ORPHA:79474
Proximal 16P11.2 Microdeletion Syndrome
Multicystic kidney dysplasia, Gastroesophageal reflux, Conductive hearing impairment, Failure to ... ORPHA:261197
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Obesity, Cryptorchidism, Postaxial polydactyly, Brachydactyly, Short long bone,... OMIM:615633
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Abnormal hair morphology, Abnormality of the ureter, Genu valgum, Cry... ORPHA:289
Ataxia-Oculomotor Apraxia 4
Hypoalbuminemia, Obesity, Hypercholesterolemia, Elevated circulating alpha-fetoprotein concentration OMIM:616267
Inflammatory Bowel Disease 25, Autosomal Recessive
Folliculitis, Recurrent bronchitis, Pancolitis, Perianal abscess, Enterocutaneous fistula, Entero... OMIM:612567
Adrenomyeloneuropathy
Frontal balding, Cognitive impairment, Urinary incontinence, Bowel incontinence, Memory impairmen... ORPHA:139399
Asplenia, Isolated Congenital
Howell-Jolly bodies, Asplenia, Thrombocytosis OMIM:271400
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Primary amenorrhea, Hepatomegaly, Diabetes m... OMIM:612526
Spastic Paraplegia 19, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:607152
Reni Syndrome
Hypoalbuminemia, Lymphopenia, Hypertriglyceridemia OMIM:617575
Myopathy, Myofibrillar, 7
Enuresis nocturna, Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle... OMIM:617114
Mosaic Trisomy 9
Low-set ears, Hypoplastic female external genitalia, Limitation of joint mobility, Abnormality of... ORPHA:99776
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Depression, Cerebral vasculitis, Goiter, Confusion, Leukocytosis, Hashimoto thyroiditis, Hypothyr... ORPHA:83601
Developmental And Epileptic Encephalopathy 95
Short distal phalanx of finger, Highly arched eyebrow, Macroglossia, Arthrogryposis multiplex con... OMIM:618143
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Sarco... ORPHA:66661
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Low-set ears, Abnormal natural killer cell morphology, Sensorineural hearing impairment, B lympho... OMIM:615966
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Ascites, Displacement of the ure... ORPHA:1556
Meier-Gorlin Syndrome 1
Low-set ears, Small hand, Joint contracture of the hand, Hearing impairment, Atresia of the exter... OMIM:224690
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Esophageal Atresia
Clinodactyly, Hearing impairment, Esophagitis, Abnormal gastrointestinal tract morphology, Ventri... ORPHA:1199
Atrial Fibrillation, Familial, 10
Atrial flutter, Paroxysmal atrial fibrillation, Tricuspid regurgitation, Permanent atrial fibrill... OMIM:614022
Cyanosis, Transient Neonatal
Reticulocytosis, Methemoglobinemia, Hepatomegaly, Anemia, Jaundice OMIM:613977
Immunodeficiency 10
Recurrent pneumonia, Recurrent otitis media, Splenomegaly, Autoimmune hemolytic anemia, Myopathy,... OMIM:612783
Dyskeratosis Congenita, Autosomal Dominant 3
Osteopenia, Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Abnormal p... OMIM:613990
Congenital Disorder Of Glycosylation, Type Ia
Osteopenia, Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Nephrotic ... OMIM:212065
Peutz-Jeghers Syndrome
Biliary tract neoplasm, Gastrointestinal carcinoma, Gastrointestinal hemorrhage, Pancreatic adeno... ORPHA:2869
Chediak-Higashi Syndrome
Hemophagocytosis, Neurodegeneration, Decreased nerve conduction velocity, Leukopenia, Giant neutr... OMIM:214500
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Hepatic sinusoidal dilatation, Cryptorchidism, Decreased body weight, Talipes equinovarus, Hypsar... OMIM:620371
Inflammatory Bowel Disease 11
Hematochezia, Inflammation of the large intestine, Diarrhea, Weight loss, Abdominal pain OMIM:191390
Spastic Paraplegia 13, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:605280
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Hepatic failure, Rickets, Elevated circulating he... OMIM:607765
Bardet-Biedl Syndrome 8
Hypogonadism, Obesity, Situs inversus totalis, Postaxial polydactyly, Hypospadias, Renal dysplasia OMIM:615985
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Low-set, posteriorly rotated ears, Abnormality of the spleen,... ORPHA:85212
Ciliary Dyskinesia, Primary, 29
Atelectasis, Situs inversus totalis, Infertility, Recurrent respiratory infections, Bronchiectasis OMIM:615872
Exocrine Pancreatic Insufficiency, Dyserythropoietic Anemia, And Calvarial Hyperostosis
Osteopenia, Exocrine pancreatic insufficiency, Splenomegaly, Anemia of inadequate production, Ski... OMIM:612714
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Birth length greater tha... ORPHA:314588
Glycogen Storage Disease Ii
Firm muscles, Sinus tachycardia, Hearing impairment, Limb muscle weakness, Splenomegaly, Pleural ... OMIM:232300
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Cirrhosis, Hepatomegaly, Polycystic kidney dysplasia, Patent ... OMIM:208540
Cushing Syndrome Due To Ectopic Acth Secretion
Acne, Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Increased circulating c... ORPHA:99889
Satoyoshi Syndrome
Amenorrhea, Hypoplasia of the uterus OMIM:600705
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Lipodystrophy, Familial Partial, Type 3
Insulin resistance, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Type II... OMIM:604367
Charcot-Marie-Tooth Disease, Type 4D
Abnormal auditory evoked potentials, Distal amyotrophy, Hearing impairment, Decreased nerve condu... OMIM:601455
C1Q Deficiency 2
Discoid lupus rash, Atelectasis, Recurrent otitis media, Malar rash, Chilblains, Arthritis, Vascu... OMIM:620321
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Hyperglycemia, Macronodul... OMIM:615954
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Autoimmune thrombocytopenia, D... OMIM:619846
Monosomy 13Q34
Insulin resistance, Hematochezia, Epistaxis, Postaxial foot polydactyly, Horizontal eyebrow, Abno... ORPHA:96168
Infantile Systemic Hyalinosis
Osteopenia, Aplasia/Hypoplasia of the thymus, Osteomalacia, Camptodactyly of finger, Joint stiffn... ORPHA:2176
Cushing Disease
Acne, Increased circulating cortisol level, Increased urinary cortisol level, Lymphopenia, Capill... ORPHA:96253
7Q31 Microdeletion Syndrome
Enuresis nocturna, Galactosuria, Low-set ears, Gastroesophageal reflux, Skeletal muscle atrophy, ... ORPHA:251061
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Hypothyroidism, Carcinoid tumor, E... OMIM:610755
Vitamin B12-Unresponsive Methylmalonic Acidemia
Optic atrophy, Cardiomyopathy, Leukopenia, Renal insufficiency, Macrocytic anemia, Hepatomegaly, ... ORPHA:27
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Delayed epiphyseal ossification, Abnormal epiphysis morphology, Elevated circulating thyroid-stim... ORPHA:226313
Macrocephaly/Autism Syndrome
Recurrent otitis media, Lymphopenia, Penile freckling, Short attention span, Splenomegaly, Joint ... OMIM:605309
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Cerebral atrophy, Hypothyroidism, B lymphocytopenia, F... OMIM:619851
Naxos Disease
Sparse body hair, Premature ventricular contraction, Arrhythmia, Curly hair, Sparse eyebrow, Abno... OMIM:601214
Alg12-Cdg
Hypoalbuminemia, Failure to thrive, Biventricular hypertrophy, Hypocholesterolemia, Muscular vent... ORPHA:79324
Noonan Syndrome 12
Tetralogy of Fallot, Lymphopenia, Thrombocytopenia, Ventricular septal defect OMIM:618624
Cockayne Syndrome B
Dry hair, Square pelvis bone, Abnormal hair morphology, Hypoplastic iliac wing, Cryptorchidism, S... OMIM:133540
Nephrotic Syndrome, Type 11
Hypoalbuminemia, Dilated cardiomyopathy, Hypercholesterolemia, Ventricular septal defect OMIM:616730
Ménétrier Disease
Hypoalbuminemia, Weight loss, Hypoproteinemia, Hypochromic microcytic anemia ORPHA:2494
Aplasia Cutis Congenita With Intestinal Lymphangiectasia
Lymphopenia, Hypoproteinemia OMIM:207731
Proteasome-Associated Autoinflammatory Syndrome 2
Decreased proportion of memory B cells, Neutrophilic infiltration of the skin, Skin rash, Lymphad... OMIM:618048
Beck-Fahrner Syndrome
Ventricular septal defect, Protruding ear, Cardiomegaly, Attention deficit hyperactivity disorder... OMIM:618798
Legionnaires Disease
Bone marrow hypocellularity, Hypotension, Hepatitis, Lymphopenia, Abnormal pleura morphology, Ren... ORPHA:549
Hereditary Geniospasm
Abnormal social behavior, Abnormality of mentalis muscle ORPHA:53372
Coenzyme Q10 Deficiency, Primary, 1
Focal segmental glomerulosclerosis, Hepatic failure, Cerebellar atrophy, Hypertrophic cardiomyopa... OMIM:607426
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Atelectasis, Decreased response t... OMIM:610978
Williams-Beuren Syndrome
Premature graying of hair, Recurrent otitis media, Mitral regurgitation, Mitral valve prolapse, S... OMIM:194050
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Premature graying of hair, Recurrent otitis media, Chronic... OMIM:256040
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young, Diabetic ketoacidosis OMIM:613370
Fanconi Renotubular Syndrome 5
Aminoaciduria, Glycosuria, Emphysema, Stage 5 chronic kidney disease, Genu valgum, Lung adenocarc... OMIM:618913
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Failure to thrive, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosplenomegaly,... ORPHA:169154
Slc35A2-Cdg
Precocious puberty, Osteopenia, Abnormal midbrain morphology, Elevated circulating hepatic transa... ORPHA:356961
Immunoneurologic Disorder, X-Linked
Functional abnormality of the bladder, Small for gestational age OMIM:300076
Den Hoed-De Boer-Voisin Syndrome
Small hand, Ventricular septal defect, Decreased body weight, Lactose intolerance, Hypsarrhythmia... OMIM:619229
Fanconi Anemia, Complementation Group I
Short 1st metacarpal, Absent thumb, Short thumb, Decreased response to growth hormone stimulation... OMIM:609053
Lipodystrophy, Congenital Generalized, Type 1
Clitoral hypertrophy, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Ge... OMIM:608594
Laurin-Sandrow Syndrome
Toe syndactyly, Limitation of joint mobility, Finger syndactyly, Mirror image polydactyly, Preaxi... ORPHA:2378
Alström Syndrome
Chronic kidney disease, Testicular fibrosis, Frontal balding, Decreased circulating T4 concentrat... ORPHA:64
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Spastic Paraplegia 3, Autosomal Dominant
Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Distal lower limb amyotrophy, ... OMIM:182600
S-Adenosylhomocysteine Hydrolase Deficiency
Hypoalbuminemia, Hypermethioninemia, Failure to thrive, Cardiomyopathy, Abnormal circulating homo... ORPHA:88618
Chédiak-Higashi Syndrome
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Cognitive impairment, Neutropenia, Jaundice, ... ORPHA:167
Melas
Nephropathy, Type II diabetes mellitus, Myopathy, Agenesis of corpus callosum, Sensorineural hear... ORPHA:550
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Periphera... ORPHA:79126
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Blue Diaper Syndrome
Nephrocalcinosis, Increased proinsulin:insulin ratio, Diarrhea, Elevated circulating thyroid-stim... ORPHA:94086
Cog5-Cdg
Low-set ears, Urinary incontinence, Joint contracture of the hand, Elevated circulating hepatic t... ORPHA:263487
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Elevated circulating follicle stimulating hormone... OMIM:618419
Atresia Of Urethra
Hydroureter, Megacystis, Recurrent urinary tract infections, Ascites, Bladder fistula, Oligohydra... ORPHA:105
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Systemic Lupus Erythematosus 17
Lymphopenia, Leukopenia, Autoimmune thrombocytopenia, Thrombocytopenia OMIM:301080
Beta-Ketothiolase Deficiency
Hypotension, Diarrhea, Ketonuria, Vomiting, Hypoglycemia, Dehydration, Hyperglycemia, Weight loss... ORPHA:134
Mitochondrial Complex I Deficiency, Nuclear Type 36
Cardiomegaly, Perimembranous ventricular septal defect, Recurrent lower respiratory tract infecti... OMIM:619170
Familial Mediterranean Fever
Erysipelas, Stage 5 chronic kidney disease, Leukocytosis, Splenomegaly, Pleural effusion, Orchiti... OMIM:249100
Kleefstra Syndrome Due To A Point Mutation
Precocious puberty, Gastroesophageal reflux, Hearing impairment, Failure to thrive, Abnormal hear... ORPHA:261652
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Elevated circulating hepatic transaminase concentration, Hepatosplenomegaly, Erythroid hyperplasi... OMIM:616860
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Eczematoid dermatitis, Patellar hypoplasia, Obesity, Vesicoureteral reflux, Cry... ORPHA:464288
Mevalonic Aciduria
Low-set ears, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Fluctu... OMIM:610377
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Stag... OMIM:608612
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Low-set ears, Restrictive cardiomyopathy, Hearing impairment, Abnormal gastrointestinal tract mor... ORPHA:369837
Fraser Syndrome 3
Low-set ears, Hypoplasia of the bladder, Short toe, Bilateral renal agenesis, Abnormal lung lobat... OMIM:617667
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Vomiting, Ketonuria, Failure to thrive, Hypoglycemia, Acute hepatic failure, Hyperglycemia, Progr... OMIM:615453
Nephrotic Syndrome, Type 1
Hypoalbuminemia, Hyperlipidemia, Hypoproteinemia, Small for gestational age OMIM:256300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Hypoalbuminemia, Decreased circulating iron concentration, Atypical scarring of skin, Decreased c... ORPHA:89842
Neuromyelitis Optica Spectrum Disorder
Optic neuritis, Myelitis, Functional abnormality of the bladder, Nausea ORPHA:71211
Anemia, Congenital Dyserythropoietic, Type Ii
Cholelithiasis, Splenomegaly, Anemia of inadequate production, Reticulocytosis, Jaundice OMIM:224100
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Increased urine alpha-ketoglutarate concentration, Hepatic failure, Ketonuria, Hypoglycemia, Dica... OMIM:619355
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Pneumonia, Adrenal cortical sclerosis, Recurrent pneumonia, Inflammatory abnormality of the skin,... OMIM:102700
Cystinosis, Nephropathic
Myopathy, Hematuria, Hepatomegaly, Male infertility, Aminoaciduria, Generalized aminoaciduria, Ma... OMIM:219800
Griscelli Syndrome Type 2
Hemophagocytosis, Pancytopenia, Splenomegaly, Lymphadenopathy, Neutropenia, Hepatomegaly, Jaundice ORPHA:79477
Spastic Paraplegia 6, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:600363
Hypogonadism, Male, With Impaired Intellectual Development And Skeletal Anomalies
Hyperglycemia, Male hypogonadism, Glucose intolerance, Hypergonadotropic hypogonadism OMIM:307500
Cidec-Related Familial Partial Lipodystrophy
Oligomenorrhea, Polycystic ovaries ORPHA:435651
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Reduced left ventricular ejection fraction, L... ORPHA:45452
Friedreich Ataxia
Optic atrophy, Decreased motor nerve conduction velocity, Hearing impairment, Cardiomyopathy, Uri... ORPHA:95
Nager Syndrome
Aplasia/Hypoplasia of the radius, Joint stiffness, Micrognathia, Aplasia/Hypoplasia of the thumb,... ORPHA:245
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Hearing impairment, Tall stature, Large for gestational age, Abnormal pulmonary valve morphology,... ORPHA:137634
Alpha-1-Antitrypsin Deficiency
Splenomegaly, Chronic bronchitis, Cirrhosis, Gastric varix, Panacinar emphysema, Bronchiectasis, ... OMIM:613490
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Aplasia of the distal phalanx of the hallux, Cryptorchidism, Sp... ORPHA:3472
Mend Syndrome
Aortic valve stenosis, Low-set ears, Abnormal auditory evoked potentials, Broad hallux, Failure t... ORPHA:401973
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Skeletal muscle atrophy, Abnormal cortical bone morphology, Hyperhidrosis, R... ORPHA:970
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Cryptorchidism, Agenesis of corpus callosum, Leukemia, Hypospad... OMIM:180849
Relapsing Fever
Epistaxis, Hypotension, Elevated circulating hepatic transaminase concentration, Acute kidney inj... ORPHA:91547
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Optic atrophy, Renal insufficiency, Renal tubular dysfunction, Hepatomegaly, Pancreatitis, Thromb... ORPHA:289916
Bachmann-Bupp Syndrome
Cupped ear, Hypoglycemia, Large for gestational age, Cryptorchidism, Sparse eyelashes, Sensorineu... OMIM:619075
Viss Syndrome
Low-set ears, Feeding difficulties, Genu valgum, Cleft soft palate, Mitral valve prolapse, Contra... OMIM:619472
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Crypto... ORPHA:93322
Aicardi-Goutieres Syndrome 7
Pancytopenia, Hepatic steatosis, Chilblains, Hepatomegaly, Recurrent lower respiratory tract infe... OMIM:615846
Acute Intermittent Porphyria
Mental deterioration, Proximal muscle weakness in lower limbs, Diarrhea, Dark urine, Nausea and v... ORPHA:79276
Agammaglobulinemia 10, Autosomal Dominant
Type I diabetes mellitus, Transient neutropenia, Recurrent sinusitis, Absent circulating B cells,... OMIM:619707
Al Amyloidosis
Postural hypotension with compensatory tachycardia, Arrhythmia, Hepatomegaly, Nephrotic syndrome,... ORPHA:85443
Pyoderma Gangrenosum
Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia, Myelodysplasia ORPHA:48104
Granulomatous Disease, Chronic, X-Linked
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Atelectasis, Ascit... OMIM:306400
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Eczematoid dermatitis, Chronic mucocutaneous candidiasis, Ly... OMIM:614162
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Reduced erythrocyte gamma-glutamyl cysteine synthetase activity, Hemolytic anemia, Reticulocytosi... OMIM:230450
47,Xyy Syndrome
Varicocele, Azoospermia, Cryptorchidism, Micropenis, Oligozoospermia, Increased circulating gonad... ORPHA:8
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Hypoalbuminemia, Failure to thrive, Increased serum bile acid concentration, Decreased circulatin... OMIM:242150
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Hypoalbuminemia, Hypercholesterolemia, Elevated circulating creatine kinase concentration OMIM:208920
Harderoporphyria
Increased urinary porphobilinogen, Splenomegaly, Reticulocytosis, Red urine, Hepatomegaly, Prolon... OMIM:618892
13Q12.3 Microdeletion Syndrome
Atopic dermatitis, Vomiting, Hearing impairment, Failure to thrive, Recurrent respiratory infecti... ORPHA:412035
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Distal amyotrophy, Hearing impairment, Decreased nerve conduction velocity, Hepatosplenomegaly, S... OMIM:609136
Lymphatic Malformation 13
Lymphedema, Ascites, Mitral regurgitation, Patent foramen ovale, Nonimmune hydrops fetalis, Pulmo... OMIM:620244
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Enlarged metaphyses, Low-set ears, Genu valgum, Congenital diaphragmatic hernia, Mitral valve pro... OMIM:245600
Spastic Paraplegia, Ataxia, And Impaired Intellectual Development
Urinary incontinence, Urinary urgency, Lower limb muscle weakness, Urinary bladder sphincter dysf... OMIM:607565
49,Xyyyy Syndrome
Male hypogonadism, Abnormality of the testis size, Decreased serum testosterone concentration, De... ORPHA:99330
Nephrogenic Diabetes Insipidus
Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Failure to thrive, Hyperna... ORPHA:223
Coach Syndrome 3
Portal fibrosis, Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Molar too... OMIM:619113
11Q22.2Q22.3 Microdeletion Syndrome
Low-set ears, Short attention span, Hemangioma, Attention deficit hyperactivity disorder, Posteri... ORPHA:444002
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Intermittent jaundice OMIM:179700
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Bronchiolitis, Interstitial pneumonitis, Enterocolitis, Recurrent sinopulmonary infections, Ulcer... OMIM:614878
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Recurrent upper respiratory tract infections, Eczematoid dermatitis, Lymphopenia, Psoriasiform de... OMIM:616100
Coach Syndrome 1
Hepatic fibrosis, Unilateral renal agenesis, Elevated circulating hepatic transaminase concentrat... OMIM:216360
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Type I diabetes mellitus, Hepatitis, Eczematoid dermatitis, Decreased FOXP3-expressing T cell cou... OMIM:304790
Diamond-Blackfan Anemia 7
Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Hearing impairment, Atresi... OMIM:612562
Nephrotic Syndrome, Type 3
Hypoalbuminemia OMIM:610725
Smith-Magenis Syndrome
Toe syndactyly, Abnormality of the ureter, Renal hypoplasia/aplasia, Feeding difficulties in infa... ORPHA:819
Mowat-Wilson Syndrome
Aortic valve stenosis, Multicystic kidney dysplasia, Recurrent otitis media, Genu valgum, Cryptor... ORPHA:2152
Radiation Proctitis
Hematochezia, Diarrhea, Arteritis, Tenesmus, Abnormal rectum morphology, Intestinal obstruction, ... ORPHA:70475
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Cryptorchidism, Hepat... OMIM:615381
Noonan Syndrome 3
Low-set ears, Juvenile myelomonocytic leukemia, Hypertrophic cardiomyopathy, Cryptorchidism, Sagi... OMIM:609942
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Flex... ORPHA:171719
Metatropic Dysplasia
Coarse metaphyseal trabecularization, Abnormal enchondral ossification, Camptodactyly of finger, ... ORPHA:2635
Hemoglobin C-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Microcytic anemia, Abnormal hemoglobin ORPHA:231242
Cantú Syndrome
Short distal phalanx of finger, Finger syndactyly, Hypertrophic cardiomyopathy, Abnormal heart va... ORPHA:1517
Hemoglobin E Disease
Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Splenomega... ORPHA:2133
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Pulmonary fibrosis, Decreased response to growth hormone stimulation test, Decreased testicular s... ORPHA:457240
Simpson-Golabi-Behmel Syndrome
Multicystic kidney dysplasia, Broad thumb, Toe syndactyly, Finger syndactyly, Abnormal helix morp... ORPHA:373
Spastic Paraplegia 10, Autosomal Dominant
Upper limb muscle weakness, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Ur... OMIM:604187
Leprechaunism
Low-set ears, Facial hypertrichosis, Hyperinsulinemia, Decreased body weight, Large hands, Abdomi... ORPHA:508
Spastic Paraplegia 36, Autosomal Dominant
Urinary incontinence, Urinary urgency, Lower limb muscle weakness OMIM:613096
Thrombocytopenia With Beta-Thalassemia, X-Linked
Epistaxis, Increased RBC distribution width, Reduced platelet alpha granules, Reticulocytosis, Sp... OMIM:314050
Scorpion Envenomation
Diarrhea, Hyperglycemia, Rhabdomyolysis, Pulmonary edema, Premature ventricular contraction, Arrh... ORPHA:466677
Kleefstra Syndrome 1
Gastroesophageal reflux, Hearing impairment, Obesity, Conotruncal defect, Cryptorchidism, Protrud... OMIM:610253
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Polysplenia, Weakness of facial musculature, Exocrin... OMIM:619418
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Nephrocalcinosis, Failure to thrive, Hypoglycemia, Hirsutism, Patent ductus arteriosus, Limb unde... OMIM:618005
Glycogen Storage Disease 0, Liver
Postprandial hyperglycemia, Neonatal hypoglycemia, Fasting hypoglycemia OMIM:240600
Oculocerebrorenal Syndrome Of Lowe
Periodontitis, Genu valgum, Cryptorchidism, Hematuria, Feeding difficulties in infancy, Proximal ... ORPHA:534
White-Sutton Syndrome
Low-set ears, Broad thumb, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Atr... OMIM:616364
Nephrotic Syndrome, Type 6
Hypoalbuminemia OMIM:614196
Acquired Generalized Lipodystrophy
Calf muscle pseudohypertrophy, Lymphoma, Cardiomyopathy, Insulin-resistant diabetes mellitus, Hyp... ORPHA:79086
Mccune-Albright Syndrome
Precocious puberty, Hyperparathyroidism, Pituitary adenoma, Increased circulating cortisol level,... OMIM:174800
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young OMIM:600496
Glucocorticoid Resistance, Generalized
Irregular menstruation, Infertility OMIM:615962
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
High-frequency hearing impairment, Atelectasis, Recurrent bronchitis, Otitis media, Chronic sinus... OMIM:300455
Autosomal Dominant Spastic Paraplegia Type 19
Male sexual dysfunction, Lower limb muscle weakness, Female sexual dysfunction, Urinary urgency, ... ORPHA:100999
Pure Autonomic Failure
Abnormality of circulating catecholamine level ORPHA:441
Fanconi Anemia, Complementation Group P
Absent thumb, Short thumb, Pancytopenia, Micrognathia, Cryptorchidism, Hypoplasia of the radius, ... OMIM:613951
Peroxisome Biogenesis Disorder 5A (Zellweger)
Low-set ears, Clitoral hypertrophy, Abnormal helix morphology, Hearing impairment, Cholestasis, H... OMIM:614866
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Otitis media, Arthritis, B lymphocytopenia, T lymphocytopenia OMIM:601457
Isolated Sedoheptulokinase Deficiency
Postprandial hyperglycemia, Cholestatic liver disease, Hepatitis, Cholestasis, Renal insufficienc... ORPHA:440713
Bile Acid Synthesis Defect, Congenital, 5
Hepatic fibrosis, Hepatic failure, Portal fibrosis, Elevated circulating hepatic transaminase con... OMIM:616278
Kleefstra Syndrome Due To 9Q34 Microdeletion
Aortic valve stenosis, Highly arched eyebrow, Aortic regurgitation, Hearing impairment, Failure t... ORPHA:96147
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Peripheral pulmonary artery stenosis, Joint contracture of the hand, Conductive hearing impairmen... OMIM:280000
Glioma Susceptibility 3
T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas... OMIM:613029
Combined Cellular And Humoral Immune Defects With Granulomas
Recurrent respiratory infections, T lymphocytopenia, B lymphocytopenia OMIM:233650
Dubowitz Syndrome
Low-set ears, Aplastic anemia, Eczematoid dermatitis, Lymphoma, Short attention span, Cryptorchid... OMIM:223370
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Pituitary Dermoid And Epidermoid Cysts
Increased circulating prolactin concentration, Hypogonadism, Panhypopituitarism, Hyperpituitarism... ORPHA:91351
Morgagni-Stewart-Morel Syndrome
Acne, Memory impairment, Obesity, Abnormality of the thyroid gland, Hirsutism, Hypertension, Hypo... ORPHA:77296
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Proteasome-Associated Autoinflammatory Syndrome 3
Failure to thrive, Lymphopenia, Splenomegaly, Lipodystrophy, Arthritis, Hypertriglyceridemia, Ane... OMIM:617591
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Pleural effusion, Nonimmune hydrops fetali... OMIM:265300
Pde4D Haploinsufficiency Syndrome
Hypotension, Cone-shaped epiphysis, Elevated circulating parathyroid hormone level, Short toe, Br... ORPHA:439822
Autoinflammation With Arthritis And Dyskeratosis
Laryngeal papilloma, Hypereosinophilia, Splenomegaly, Autoimmune hemolytic anemia, Corneal neovas... OMIM:617388
Sim1-Related Prader-Willi-Like Syndrome
Premature adrenarche, Small hand, Xerostomia, Absence of pubertal development, Type II diabetes m... ORPHA:398079
Hypophosphatemic Rickets, X-Linked Dominant
Renal phosphate wasting, Rickets, Elevated circulating parathyroid hormone level, Osteomalacia, H... OMIM:307800
Dopamine Beta-Hydroxylase Deficiency
Insulin resistance, Orthostatic syncope, Elevated urinary dopamine level, Diarrhea, Vomiting, Hyp... ORPHA:230
Autosomal Recessive Cutis Laxa Type 1
Recurrent pneumonia, Multiple bladder diverticula, Peripheral pulmonary artery stenosis, Urethral... ORPHA:90349
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hearing impairment, Recurrent hypoglycemia, Cholestasis, Hyperglycemia, Hepatic steatosis, Rhabdo... OMIM:124000
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Hypoglycemia, Nonimmune hydrops fetalis, Cardiomegaly, Decreased circulating ... OMIM:618838
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Low-set ears, Highly arched eyebrow, Anteriorly placed anus, Tibial torsion, Supernumerary nipple... OMIM:618653
Fibrous Dysplasia Of Bone
Increased circulating cortisol level, Hearing impairment, Osteomalacia, Ovarian cyst, Elevated ci... ORPHA:249
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Atopic dermatitis, Decreased proportion of memory B cells, Otitis media, B lymphocytopenia, Recur... ORPHA:70593
Camurati-Engelmann Disease
Optic atrophy, Craniofacial osteosclerosis, Skeletal muscle atrophy, Urinary retention, Hearing i... ORPHA:1328
Spondylometaphyseal Dysplasia, Sedaghatian Type
Delayed epiphyseal ossification, Widened greater sciatic notch, Talipes equinovarus, Arrhythmia, ... OMIM:250220
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal fingertip morphology, Multicystic kidney dysplasia, Ureterocele, Urethral stricture, Dup... ORPHA:79404
Central Diabetes Insipidus
Diarrhea, Failure to thrive, Anorexia, Nausea and vomiting, Weight loss, Nocturia, Diabetes insip... ORPHA:178029
Idiopathic Bronchiectasis
Bronchiectasis, Emphysema, Respiratory tract infection, Cachexia, Acute infectious pneumonia, Clu... ORPHA:60033
Orthostatic Hypotension 1
Weakness of facial musculature, Orthostatic hypotension, Brachydactyly, Nocturia, Atrial fibrilla... OMIM:223360
Kikuchi-Fujimoto Disease
Abnormal lymph node morphology, Pustule, Neutropenia, Hepatomegaly, Vasculitis, Malar rash, Enlar... ORPHA:50918
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... OMIM:268305
Dyskeratosis Congenita, Autosomal Recessive 5
Colitis, Nail dystrophy, Esophageal stenosis OMIM:615190
Erdheim-Chester Disease
Abnormal pulmonary interstitial morphology, Diabetes insipidus, Congestive heart failure, Osteomy... ORPHA:35687
Spastic Paraplegia 30, Autosomal Dominant
Lower limb amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction OMIM:610357
Joubert Syndrome 37
Low-set ears, Decreased testicular size, Obesity, Cryptorchidism, Postaxial polydactyly, Hydronep... OMIM:619185
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Large for gestational age, Diastasis recti, Cryptorchidism, Intestinal polyp, Lactose intolerance... ORPHA:457485
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Vasculitis, Erysipelas, Vertigo, Leukocytosis, Splenomegaly, Skin rash, Orchitis, Myositis, Perit... ORPHA:32960
Sarcoidosis
Abnormal lymph node morphology, Abnormal pleura morphology, Abnormal reproductive system morpholo... ORPHA:797
Citrullinemia Type Ii
Hepatic fibrosis, Memory impairment, Decreased body mass index, Diarrhea, Vomiting, Confusion, De... ORPHA:247585
Digeorge Syndrome
Low-set ears, Acne, Recurrent otitis media, Intervertebral disk degeneration, Ovarian cyst, Hepat... OMIM:188400
Pseudo-Torch Syndrome 3
Acute kidney injury, Lymphadenitis, Leukocytosis, Cardiomegaly, Proteinuria, Congenital thrombocy... OMIM:618886
Progressive Multifocal Leukoencephalopathy
Mental deterioration, Decreased proportion of CD8-positive T cells, Vertigo, Abnormal astrocyte m... ORPHA:217260
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Abnormal heart morphology, Congenital diaphragmatic hernia, Arachnodactyly, Hip disloc... OMIM:614100
Poland Syndrome
Hypospadias, Acute leukemia, Aplasia of the pectoralis major muscle, Renal hypoplasia, Ureterocel... ORPHA:2911
Hsd10 Disease
Optic atrophy, Elevated urinary 3-hydroxybutyric acid, Frontotemporal cerebral atrophy, Hearing i... ORPHA:391417
Ventriculomegaly With Defects Of The Radius And Kidney
Bowed forearm bones, Forearm undergrowth, Absent thumb, Absent radius OMIM:602200
Autosomal Recessive Primary Microcephaly
Unilateral renal agenesis, Vesicoureteral reflux, Abnormal cortical bone morphology, Agenesis of ... ORPHA:2512
Immunodeficiency 42
Splenomegaly, Hypoplasia of the thymus, Recurrent cutaneous fungal infections, Hepatomegaly, Chro... OMIM:616622
Estrogen Resistance Syndrome
Absence of secondary sex characteristics, Absence of pubertal development, Hyperinsulinemia, Brea... ORPHA:785
Immunodeficiency 92
Pneumonia, Osteomyelitis, Thrombocytosis, Leukocytosis, Sclerosing cholangitis, Lymphocytosis, De... OMIM:619652
Arterial Calcification, Generalized, Of Infancy, 2
Nephrocalcinosis, Cardiogenic shock, Sinus tachycardia, Congestive heart failure, Tricuspid regur... OMIM:614473
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Hypoalbuminemia, Hyperkalemia, Conjugated hyperbilirubinemia, Increased total bilirubin OMIM:618528
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Palpitations, Premature ventricular contraction, Ventricular tachycardia, Left bundle branch bloc... OMIM:618920
Spinocerebellar Ataxia 42
Urinary incontinence, Urinary urgency, Dysphagia, Cognitive impairment OMIM:616795
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts
Elevated circulating hepatic transaminase concentration, Hypogonadism, Hepatosplenomegaly, Azoosp... ORPHA:300298
X-Linked Acrogigantism
Pituitary adenoma, Increased circulating prolactin concentration, Fasting hyperinsulinemia, Hypop... ORPHA:300373
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Low-set ears, Type I diabetes mellitus, Hepatitis, Pancytopenia, Hypersplenism, Portal hypertensi... OMIM:613385
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Conductive hearing impairment, Atelectasis, Recurrent otitis media, Recurren... OMIM:616726
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Diarrhea, Abnormality of the urethra, Acute hepatic failure, Abnorma... ORPHA:36426
Mcleod Syndrome
Depression, Dilated cardiomyopathy, Cardiomyopathy, Elevated circulating aspartate aminotransfera... OMIM:300842
Netherton Syndrome
Aminoaciduria, Sparse eyebrow, Eczematoid dermatitis, Fine hair, Dehydration, Abnormal hair morph... ORPHA:634
Common Variable Immunodeficiency
Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Chronic otitis me... ORPHA:1572
Agammaglobulinemia 6, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent bronchitis, B lymphocytopenia, Abnormal T ... OMIM:612692
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials, Progressive sensorineural hearing impairmen... OMIM:601338
Abetalipoproteinemia
Hypoalbuminemia, Osteopenia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Abnorma... ORPHA:14
1P36 Deletion Syndrome
Abnormality of the spleen, Cryptorchidism, Hepatic steatosis, Sensorineural hearing impairment, G... ORPHA:1606
Gaucher Disease
Hearing impairment, Pancytopenia, Hematuria, Cirrhosis, Hepatomegaly, Increased bone mineral dens... ORPHA:355
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Abnormal auditory evoked potentials, Irregular epiphyses, Sensorineural hearing impairment, Optic... OMIM:619260
Hereditary Motor And Sensory Neuropathy, Type Iic
Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotr... OMIM:606071
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Failure to thrive, Hypoglycemia, Decreased liver function, Hypertrophic cardiomyop... OMIM:618329
Lipe-Related Familial Partial Lipodystrophy
Polycystic ovaries, Oligomenorrhea, Abnormal labia majora morphology ORPHA:435660
Charge Syndrome
Lymphopenia, Micrognathia, Cryptorchidism, Absent radius, Hypoparathyroidism, Bilateral talipes e... OMIM:214800
Autosomal Dominant Hypophosphatemic Rickets
Rickets, Osteomalacia, Hyperphosphaturia, Tooth abscess, Iron deficiency anemia ORPHA:89937
Sea-Blue Histiocytosis
Sea-blue histiocytosis, Splenomegaly, Thrombocytopenia, Hepatomegaly, Mediastinal lymphadenopathy ORPHA:158029
8P11.2 Deletion Syndrome
Hypogonadism, Azoospermia, Splenomegaly, Cryptorchidism, Hypogonadotropic hypogonadism, Patent du... ORPHA:251066
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Interstitial pneumonitis, Splenomegaly, Autoimmune hemolytic anemia, Neutropenia in presence of a... ORPHA:231154
Ciliary Dyskinesia, Primary, 18
Immotile sperm, Male infertility OMIM:614874
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Congenital diaphragmatic hernia, Rad... OMIM:154400
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Osteopenia, Recurrent pneumonia, Atrial fibrillation,... OMIM:613327
Q Fever
Hepatosplenomegaly, Hematuria, Hepatomegaly, Vasculitis, Granuloma, Osteomyelitis, Abnormality of... ORPHA:781
Bronchial Neuroendocrine Tumor
Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Increased c... ORPHA:97287
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Broad hallux, Horseshoe kidney, Nail dystrophy, Hirsutism, 2-3 toe syndactyl... OMIM:300860
Diabetes Mellitus, Permanent Neonatal, 3
Type I diabetes mellitus, Ketonuria, Glycosuria, Hyperglycemia, Interictal epileptiform activity,... OMIM:618857
Sapho Syndrome
Vasculitis, Inflammation of the large intestine, Osteomyelitis, Psoriasiform dermatitis, Malabsor... ORPHA:793
Thyrotoxic Periodic Paralysis
Lower limb muscle weakness, Rhabdomyolysis, Weight loss, Ventricular fibrillation, Postprandial h... ORPHA:79102
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Recurrent otitis media, Hepatosplenomegaly, Genu valgum, Chronic constipation, EEG with central f... OMIM:301066
Hardikar Syndrome
Portal inflammation, Cholestasis, Hepatosplenomegaly, Hypersplenism, Impaired growth-hormone resp... OMIM:301068
Fryns Syndrome
Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism, Ventricul... OMIM:229850
Aplasia Cutis Congenita-Intestinal Lymphangiectasia Syndrome
Lymphopenia, Hypoproteinemia ORPHA:1116
Sneddon Syndrome
Bicuspid aortic valve, Lymphopenia, Atrophic scars OMIM:182410
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Short toe, Short finger, Low urinary cyclic AMP r... OMIM:103580
Agammaglobulinemia 8A, Autosomal Dominant
Recurrent otitis media, B lymphocytopenia OMIM:616941
Noonan Syndrome 4
Low-set ears, Sparse eyebrow, High anterior hairline, Hypertrophic cardiomyopathy, Large for gest... OMIM:610733
Mpi-Cdg
Hypoalbuminemia, Failure to thrive ORPHA:79319
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Broad thumb, Cryptorchidism, Sensorineural hearing impairment, Ventricular... ORPHA:353281
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Atelectasis, Hepatocellular necrosis, Pulmonary fibrosis, Hepatosplenomegaly, Brain atrophy, Elli... OMIM:618278
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Underdeveloped superior crus of antihelix, Macroglossia, Hearing impairment,... ORPHA:369950
Phosphoglycerate Kinase 1 Deficiency
Erythroid hyperplasia, Exercise-induced myoglobinuria, Renal insufficiency, Emotional lability, R... OMIM:300653
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Neuroendocrine neoplasm, Ascites, Anorexia, Cholecystitis, Intermittent j... ORPHA:100086
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Bronchiectasis, Chronic otitis media, Atelectasis OMIM:619466
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal ascites, Polyhydramnios, Splenomegaly, Hepatomegaly, Hydrops fetalis OMIM:619462
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Chronic constipation... OMIM:213980
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Dysplasia of the femoral head, Mitral valve prolapse, Arachnodactyly, Talipes equin... ORPHA:536467
Neurodegeneration And Seizures Due To Copper Transport Defect
Pulmonary hypoplasia, Short tibia, Glandular hypospadias, Tricuspid regurgitation, Cardiomegaly, ... OMIM:620306
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Low-set ears, Hyperglycemia, Mitral regurgitation, Pulmonary edema, Bicuspid aortic valve, Dyspha... OMIM:220111
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Patent ductus arteriosus, Gast... ORPHA:95430
Triosephosphate Isomerase Deficiency
Normocytic anemia, Cholelithiasis, Skeletal muscle atrophy, Cerebral atrophy, Congestive heart fa... OMIM:615512
Septo-Optic Dysplasia Spectrum
Obesity, Cryptorchidism, Sensorineural hearing impairment, Hypohidrosis, Constipation, Maternal d... ORPHA:3157
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Sparse body hair, Hypogonadism, Decreased testicular size, Obesity, Abnormality of the thyroid gl... ORPHA:2234
Renal Dysplasia
Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure... ORPHA:93108
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Erythroid hyperplasia, Reticulocytosis, S... OMIM:266200
Nijmegen Breakage Syndrome
Recurrent pneumonia, Glioma, Lymphoma, Rhabdomyosarcoma, Recurrent otitis media, Neurodegeneratio... OMIM:251260
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Hepatic failure, Cholestasis, Hepatosplenomegaly, Oligohydramnios, Esophagitis,... ORPHA:541423
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies
Low-set ears, Ventricular hypertrophy, Recurrent otitis media, Underdeveloped tragus, Feeding dif... OMIM:620654
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Splenomegaly, Abnormal hemoglobin, Hepatomegaly, Anemia, Pericarditis ORPHA:163596
Short Syndrome
Insulin resistance, Low-set ears, Radial deviation of finger, Slender long bone, Clinodactyly, In... OMIM:269880
Fanconi Anemia, Complementation Group W
Absent thumb, Polysplenia, Decreased response to growth hormone stimulation test, Hypoplasia of t... OMIM:617784
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Mental deterioration, Feeding difficulties, Delirium, Jaundice, Stomatitis, Memory ... ORPHA:79282
Noonan Syndrome 5
Low-set ears, Sparse eyebrow, Fine hair, Hypertrophic cardiomyopathy, Large for gestational age, ... OMIM:611553
Peroxisome Biogenesis Disorder 12A (Zellweger)
Hepatic failure, Cholelithiasis, Elevated circulating hepatic transaminase concentration, Abnorma... OMIM:614886
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Urinary incontinence, Mental deterioration, Optic atrophy, Urinary urgency OMIM:612319
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Ankyloglossia, Genu valgum, Cryptorchidism, Mitral regurgitation, Mitra... OMIM:615873
Tracheobronchopathia Osteochondroplastica
Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Calcification of cartilage, Esophagitis,... ORPHA:3348
Glycosylphosphatidylinositol Biosynthesis Defect 1
Abnormal bone marrow cell morphology, Portal hypertension, Splenomegaly, Portal vein thrombosis, ... OMIM:610293
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Pneumonia, Low-set ears, Recurrent upper respiratory tract infections, Chronic bronchitis, B lymp... OMIM:614069
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Hypoalbuminemia, Failure to thrive, Hyperammonemia, Joint hypermobility, Decreased serum zinc, Co... OMIM:617093
Cardiofacioneurodevelopmental Syndrome
Abdominal situs inversus, Cryptorchidism, Protruding ear, Camptodactyly, Asplenia, Pulmonic stenosis OMIM:619123
Dyskeratosis Congenita, Autosomal Recessive 8
Inflammation of the large intestine, Sparse scalp hair, Oral leukoplakia, Nail dystrophy, Pancoli... OMIM:620133
Acromegaly
Acne, Pituitary prolactin cell adenoma, Tall stature, Mitral regurgitation, Dysmenorrhea, General... ORPHA:963
Cornelia De Lange Syndrome 1
Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Hypoplastic labia majora, Dislocat... OMIM:122470
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Atrioventricular block, Dilated cardiom... ORPHA:98855
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Small hand, Gastroesophageal reflux, Hearing impairment, Failure to thrive, Hypogonadism, Cryptor... ORPHA:500055
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Optic atrophy, Cardiomyopathy, Congestive heart failure, Limb muscle weakness, 3-Methylglutaconic... OMIM:619259
Sotos Syndrome
Small cell lung carcinoma, Hearing impairment, Decreased fertility, Cryptorchidism, Hip contractu... ORPHA:821
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Hyperglycemia, Optic disc pallor OMIM:618970
Hypoglossia With Situs Inversus
Low-set ears, Asplenia, Polysplenia OMIM:612776
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Attention deficit hyperactivity disorder, Urinary urgency OMIM:618878
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma OMIM:617100
Solitary Fibrous Tumor
Urinary retention, Hypoglycemia, Recurrent hypoglycemia, Pelvic mass, Neoplasm of the liver, Weig... ORPHA:2126
Ulbright-Hodes Syndrome
Abnormal penis morphology, Mesomelia, Clitoral hypertrophy, Abnormal forearm bone morphology, Fib... ORPHA:3404
Pancreatic And Cerebellar Agenesis
Low-set ears, Optic nerve hypoplasia, Secundum atrial septal defect, Pancreatic hypoplasia, Hypog... OMIM:609069
Congenital Disorder Of Glycosylation, Type Iiaa
Persistent patent ductus venosus, Unilateral renal agenesis, Hepatic fibrosis, Nodular regenerati... OMIM:620454
Parkinson Disease 6, Autosomal Recessive Early-Onset
Dementia, Urinary urgency OMIM:605909
Combined Immunodeficiency Due To Crac Channel Dysfunction
Pneumonia, Neoplasm, Splenomegaly, Myopathy, Lymphadenopathy, Thrombocytopenia, Anhidrosis, Hepat... ORPHA:169090
Joubert Syndrome 33
Splenomegaly, Molar tooth sign on MRI OMIM:617767
Spastic Paraplegia 80, Autosomal Dominant
Mental deterioration, Urinary urgency OMIM:618418
Noonan Syndrome 1
Low-set ears, Chylothorax, Juvenile myelomonocytic leukemia, Neurofibrosarcoma, Hearing impairmen... OMIM:163950
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Urinary bladder sphincter dysfunction, Progressive hearing impairment, Abno... ORPHA:43
Glycogen Storage Disease Vii
Increased variability in muscle fiber diameter, Cholelithiasis, Increased muscle glycogen content... OMIM:232800
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Aminoaciduria, Nephrocalcinosis, Cardiomyopathy, Cerebral atrophy, Sideroblastic anemia, Splenome... OMIM:616084
Foix-Alajouanine Syndrome
Colonic inertia, Myelitis, Functional abnormality of the bladder, Urinary retention, Lower limb m... ORPHA:79093
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Hypopituitarism, Decreased circulating T4 concentration, Sensorineur... ORPHA:226307
Pituitary Apoplexy
Hypotension, Pituitary adenoma, Increased circulating cortisol level, Increased circulating prola... ORPHA:95613
Adiposis Dolorosa
Sparse pubic hair, Memory impairment, Xerostomia, Diarrhea, Obesity, Sparse axillary hair, Hypoth... ORPHA:36397
Dyskeratosis Congenita, Autosomal Dominant 1
Bone marrow hypocellularity, Increased mean corpuscular volume, Aplastic anemia, Budd-Chiari synd... OMIM:127550
Meconium Aspiration Syndrome
Atelectasis, Aspiration pneumonia, Pulmonary arterial hypertension, Pneumothorax, Maternal diabet... ORPHA:70588
Fetal Cytomegalovirus Syndrome
Optic atrophy, Elevated circulating hepatic transaminase concentration, Hepatitis, Retinal hemorr... ORPHA:294
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Short thumb, Lacrimal gland hypoplasia, Preaxial polydactyly, Abs... OMIM:149730
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogonadism, Decreased testicular size, Decreased serum testosterone concentration, Emotional la... OMIM:201100
Proteus-Like Syndrome
Thymus hyperplasia, Abnormality of the parathyroid gland, Bronchogenic cyst, Subcutaneous lipoma,... ORPHA:2969
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Interstitial pneumonitis, Splenomegaly, Hepatomegal... OMIM:620296
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Rimmed vacuole... ORPHA:98853
Ciliary Dyskinesia, Primary, 1
Pneumonia, Conductive hearing impairment, Atelectasis, Recurrent bronchitis, Asplenia, Chronic ot... OMIM:244400
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Focal pancreatic isle... ORPHA:79644
Chromosome Xq26.3 Duplication Syndrome
Pituitary adenoma, Increased circulating prolactin concentration, Hypopituitarism, Elevated circu... OMIM:300942
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Cupped ear, Hearing impairment, Bilateral cryptorchidism, Overfolded ... OMIM:617746
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Joint stiffness, S... OMIM:230500
Supranuclear Palsy, Progressive, 1
Memory impairment, Cerebral atrophy, Frontolimbic dementia, Astrocytosis, Retrocollis, Irritabili... OMIM:601104
Glycogen Storage Disease Ia
Focal segmental glomerulosclerosis, Hypoglycemia, Decreased muscle mass, Decreased glomerular fil... OMIM:232200
Somatomammotropinoma
Increased circulating prolactin concentration, Pituitary prolactin cell adenoma, Tall stature, Mi... ORPHA:314769
Congenital Syphilis
Pneumonia, Optic atrophy, Diarrhea, Keratitis, Hearing impairment, Hypoglycemia, Hepatosplenomega... ORPHA:499009
Neuroendocrine Tumor Of Stomach
Increased serum serotonin, Hypotension, Cardiogenic shock, Right ventricular failure, Hepatic fai... ORPHA:100075
Pigmented Nodular Adrenocortical Disease, Primary, 4
Acne, Alopecia, Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplas... OMIM:615830
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Atelectasis, Recurrent otitis media, Chronic sinusitis, Bronchiectasis OMIM:615294
Spinocerebellar Ataxia 25
Vomiting, Facial myokymia, Urinary urgency, Hearing impairment OMIM:608703
Recurrent Respiratory Papillomatosis
Recurrent upper respiratory tract infections, Recurrent pneumonia, Failure to thrive, Atelectasis... ORPHA:60032
Gaucher Disease Type 3
Abnormal pulmonary interstitial morphology, Dementia, Pancytopenia, Splenomegaly, Increased susce... ORPHA:77261
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Inflammation of the large intestine, Diarrhea, Anoperineal fistula, Chronic gastritis, Esophagiti... OMIM:301074
Pituitary Adenoma 4, Acth-Secreting
Pituitary adenoma, Skeletal muscle atrophy, Edema, Increased circulating ACTH level, Obesity, Glu... OMIM:219090
Spastic Paraplegia 78, Autosomal Recessive
Dementia, Mental deterioration, Urinary urgency OMIM:617225
Immunodeficiency With Hyper-Igm, Type 1
Absence of lymph node germinal center, Hepatitis, Chronic hepatitis, Splenomegaly, Sclerosing cho... OMIM:308230
D-Bifunctional Protein Deficiency
Low-set ears, Osteopenia, Fetal ascites, Elevated circulating hepatic transaminase concentration,... OMIM:261515
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
White hair, Fine hair, Malabsorption, Aganglionic megacolon, Cognitive impairment, Long fibula, R... ORPHA:935
Dehydrated Hereditary Stomatocytosis 2
Increased mean corpuscular volume, Increased mean corpuscular hemoglobin concentration, Thrombocy... OMIM:616689
Fanconi Anemia, Complementation Group F
Absent thumb, Short thumb, Microphallus, Decreased response to growth hormone stimulation test, L... OMIM:603467
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Absent extraocular muscles... OMIM:109120
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hypoalbuminemia, Coronal craniosynostosis, Joint contracture of the hand, Umbilical hernia, Ventr... OMIM:235510
Arterial Tortuosity Syndrome
Esophagitis, Arachnodactyly, Hip dislocation, Macrotia, Gastroesophageal reflux, Hypertrophic car... ORPHA:3342
Meckel Syndrome, Type 1
Accessory spleen, Malformation of the hepatic ductal plate, Low-set ears, Abnormality of the uter... OMIM:249000
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Alopecia, Sparse scalp hair, Insulin-resistant diabetes mellitus,... OMIM:248370
Spinocerebellar Ataxia 1
Optic atrophy, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude ... OMIM:164400
Marburg Hemorrhagic Fever
Neutrophilia in presence of infection, Lymphopenia, Jaundice, Tachycardia, Shock, Abnormal lympho... ORPHA:99826
Urofacial Syndrome 1
Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr... OMIM:236730
Immunodeficiency 67
Abnormal T cell count, Transient neutropenia, Abnormal B cell count, Septic arthritis, Abnormal n... OMIM:607676
Senior-Loken Syndrome 9
Hepatic fibrosis, Nephronophthisis, Hypogonadism, Cholestasis, Obesity, Stage 5 chronic kidney di... OMIM:616629
Spinocerebellar Ataxia With Axonal Neuropathy Type 2
Hypoalbuminemia, Elevated circulating creatine kinase concentration, Hypercholesterolemia, Elevat... ORPHA:64753
Chronic Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529808
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Broad thumb, Cryptorchidism, Sensorineural hearing impairmen... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Broad thumb, Cryptorchidism, Sensorineural hearing impairmen... ORPHA:353277
Hyperlipoproteinemia, Type Id
Failure to thrive, Splenomegaly, Recurrent pancreatitis, Pancreatitis, Hepatomegaly, Colitis OMIM:615947
Acute Bilirubin Encephalopathy
Hypoalbuminemia, Neonatal hyperbilirubinemia, Hemolytic anemia, Hypernatremia ORPHA:529799
Intellectual Developmental Disorder, X-Linked, Syndromic 34
High, narrow palate, Gastroesophageal reflux, Synostosis of the proximal phalanx of the thumb wit... OMIM:300967
Japanese Encephalitis
Abnormal midbrain morphology, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... ORPHA:79139
Amoebiasis Due To Free-Living Amoebae
Pneumonia, Increased red blood cell count, Myocardial necrosis, Abnormal midbrain morphology, Gra... ORPHA:68
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Acute hepatic failure, Abnormal pleura m... ORPHA:537
Glycogen Storage Disease Xii
Normocytic anemia, Increased variability in muscle fiber diameter, Cholelithiasis, Splenomegaly, ... OMIM:611881
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Hypoalbuminemia, Failure to thrive, Multiple muscular ventricular septal defects, Pulmonic stenos... OMIM:615508
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Cholelithiasis, Splenomegaly, Reticulocytosis, Cholecystitis, Nonspherocytic h... OMIM:235700
Zollinger-Ellison Syndrome
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Ciliary Dyskinesia, Primary, 14
Immotile sperm, Male infertility, Reduced sperm motility OMIM:613807
Prolidase Deficiency
Palmoplantar keratoderma, Hearing impairment, Splenomegaly, Crusting erythematous dermatitis, Hyp... ORPHA:742
Trichohepatoenteric Syndrome 1
Hypoalbuminemia, Hypermethioninemia, Increased circulating iron concentration, Small for gestatio... OMIM:222470
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Obesity, Ventricular septal defect, Hydr... OMIM:620511
Urofacial Syndrome 2
Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro... OMIM:615112
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98754
Carpenter Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Polysplenia, Preaxial foot polydactyly, Obesity, ... ORPHA:65759
Cystinosis
Nephropathy, Aminoaciduria, Type I diabetes mellitus, Rickets, Portal hypertension, Renal insuffi... ORPHA:213
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Hearing... OMIM:277440
Type 1 Diabetes Mellitus
Hyperglycemia, Diabetes mellitus, Polyuria OMIM:222100
Absent Radius-Anogenital Anomalies Syndrome
Ectrodactyly, Oligodactyly, Perineal fistula, Hypoplasia of the radius, Rectovaginal fistula ORPHA:3016
Proprotein Convertase 1/3 Deficiency
Diarrhea, Elevated circulating proinsulin concentration, Obesity, Villous atrophy, Malabsorption,... OMIM:600955
Autosomal Dominant Spastic Paraplegia Type 36
Urinary incontinence, Urinary urgency, Arthritis ORPHA:320365
Autosomal Dominant Spastic Paraplegia Type 3
Distal lower limb muscle weakness, Distal lower limb amyotrophy, Urinary urgency, Lower limb hype... ORPHA:100984
Immunodeficiency 49
Abnormally low T cell receptor excision circle level, Umbilical hernia, Lymphopenia, Eosinophilia... OMIM:617237
Diamond-Blackfan Anemia 21
Aortic regurgitation, Low-set ears, Coarse hair, Horizontal eyebrow, Short toe, Sandal gap, Preax... OMIM:620072
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Generalized aminoaciduria, Rickets, Elevated circulating parathy... OMIM:264700
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Lysinuric Protein Intolerance
Aminoaciduria, Hyperlysinuria, Intraalveolar phospholipid accumulation, Hemophagocytosis, Skeleta... OMIM:222700
American Trypanosomiasis
Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Aganglionic megacolon, Arrhyth... ORPHA:3386
Pyle Disease
Limited elbow extension, Reduced bone mineral density, Thin bony cortex OMIM:265900
X-Linked Intellectual Disability, Cabezas Type
Small hand, Toe syndactyly, Sandal gap, Abnormal earlobe morphology, Camptodactyly of finger, Hyp... ORPHA:85293
T-Cell Lymphoma, Subcutaneous Panniculitis-Like
Hemophagocytosis, Pancytopenia, Splenomegaly, Panniculitis, Anemia, Subcutaneous panniculitis-lik... OMIM:618398
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy
Bilateral sensorineural hearing impairment, Urinary urgency ORPHA:314603
Epidermodysplasia Verruciformis, Susceptibility To, 5
Lymphopenia, T lymphocytopenia OMIM:618309
Loeys-Dietz Syndrome 4
High, narrow palate, Bifid uvula, Broad uvula, Emphysema, Tall stature, Mitral valve prolapse, Ar... OMIM:614816
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Accessory spleen, Hepatic fibrosis, Severe B lymphocytopenia, Elevated circulating hepatic transa... OMIM:620005
Acute Generalized Exanthematous Pustulosis
Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro... ORPHA:293173
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Low-set ears, Osteopenia, Hepatic fibrosis, Pancreatic hypoplasia, Hepatitis, Elevated circulatin... OMIM:610199
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Precocious puberty, Irregular menstruation, Clitoral hypertrophy, Long penis, Ambiguous genitalia... ORPHA:90795
Methylmalonic Aciduria, Cblb Type
Dilated cardiomyopathy, Ketonuria, Methylmalonic aciduria, Hypoglycemia, Failure to thrive, Vomit... OMIM:251110
Congenital Tricuspid Valve Dysplasia
Small for gestational age, Tricuspid regurgitation, Abnormal tricuspid valve annulus morphology, ... ORPHA:555874
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:98793
Hyper-Igd Syndrome
Lymphadenitis, Molluscum contagiosum, Vertigo, Hepatosplenomegaly, Leukocytosis, Splenomegaly, Sk... OMIM:260920
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Bilateral cryptorchidism, Feeding diffic... ORPHA:466722
Chime Syndrome
Abnormality of the outer ear, Acute leukemia, Cerebral cortical atrophy, Hearing impairment, Hydr... ORPHA:3474
Cohen Syndrome
Aplasia/Hypoplasia of the earlobes, Finger syndactyly, Genu valgum, Cryptorchidism, Mitral valve ... ORPHA:193
Cryoglobulinemic Vasculitis
Vasculitis, Gastrointestinal hemorrhage, Abnormality of the liver, Renal insufficiency, Splenomeg... ORPHA:91138
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177904
Spastic Paraplegia 37, Autosomal Dominant
Urinary incontinence, Urinary urgency OMIM:611945
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Reticulocytosis, Anemia of inadequate... OMIM:224120
Neu-Laxova Syndrome
Osteopenia, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Rickets, S... ORPHA:2671
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Postprandial hyperglycemia, Ketonuria, Glycosuria, Failure to thrive, Ketotic hypoglycemia, Abnor... ORPHA:2089
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Type I diabetes mellitus, Proximal tubulopathy, Rickets, Hearing impairment, Polyuria, Hepatomega... OMIM:560000
Grant Syndrome
Joint hypermobility, Abnormal cortical bone morphology, Decreased skull ossification ORPHA:2097
Atrial Septal Defect, Coronary Sinus Type
Pneumonia, Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Tra... ORPHA:99104
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Vasculitis, Leukocytosis, Skin rash, Increased proportion of CD4-positive T cells, Lymphadenopath... OMIM:617099
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Premature adrenarche, Small hand, Decreased circulating T4 concentration, Central adrenal insuffi... ORPHA:177901
Autosomal Dominant Spastic Paraplegia Type 12
Male sexual dysfunction, Lower limb muscle weakness, Female sexual dysfunction, Urinary urgency, ... ORPHA:100993
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Delayed epiphyseal ossification, Rickets, Elevated circulating parathyroid hormone level, Rickets... OMIM:600785
Hermansky-Pudlak Syndrome 2
Low-set ears, Reduced natural killer cell count, Recurrent pneumonia, Enlarged platelet dense gra... OMIM:608233
Cutis Laxa, Autosomal Recessive, Type Ib
Low-set ears, Pulmonary artery aneurysm, Right ventricular dilatation, Pulmonary artery dilatatio... OMIM:614437
Spastic Paraplegia 89, Autosomal Recessive
Functional abnormality of the bladder OMIM:620379
Combined Oxidative Phosphorylation Deficiency 55
Proximal tubulopathy, High-frequency hearing impairment, Organic aciduria, Type 2 muscle fiber pr... OMIM:619743
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Aplastic anemia, Horseshoe kidney, Medulloblastoma, Nephroblastoma, Ac... OMIM:610832
Pelizaeus-Merzbacher Disease
Mental deterioration, Optic atrophy, Hearing impairment, Failure to thrive, Cognitive impairment,... OMIM:312080
Cold Agglutinin Disease
Abnormal urinary color, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia ORPHA:56425
Pseudohypoparathyroidism Type 1C
Low urinary cyclic AMP response to PTH administration, Calcinosis, Short metacarpal, Broad distal... ORPHA:79444
Whim Syndrome
Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Atel... ORPHA:51636
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Pneumonia, Abnormal T cell count, Hearing impairment, Decreased response to growth hormone stimul... OMIM:307200
7Q11.23 Microduplication Syndrome
Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Cryptorchidism, Congenita... ORPHA:96121
Multiple Endocrine Neoplasia Type 4
Diarrhea, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:66628
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Recurrent pneumonia, Absent natural killer cells, Rectovaginal fistula, Lymphopenia, Hepatospleno... ORPHA:35078
Hemolytic Uremic Syndrome, Atypical, 8, With Rhizomelic Short Stature
Elevated circulating creatinine concentration, Lymphopenia, Leukopenia, Reduced haptoglobin level... OMIM:301110
Multiple Endocrine Neoplasia, Type I
Thyroid adenoma, Pituitary adenoma, Increased circulating cortisol level, Pituitary prolactin cel... OMIM:131100
Pancreatic Triacylglycerol Lipase Deficiency
Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Weight l... ORPHA:309031
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Obesity, Nausea and vomiting, Ragged-red mu... OMIM:615418
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Prader-Willi Syndrome Due To Translocation
Small hand, Clinodactyly, Overlapping toe, Feeding difficulties in infancy, Anterior pituitary hy... ORPHA:177907
Imerslund-Gräsbeck Syndrome
Anisopoikilocytosis, Hypersegmentation of neutrophil nuclei, Pancytopenia, Reticulocytosis, Macro... ORPHA:35858
Behçet Disease
Mitral regurgitation, Aortic regurgitation, Vasculitis, Gastrointestinal hemorrhage, Memory impai... ORPHA:117
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Reduced natural killer cell count, Cutaneous abscess, Lymphopenia, Increased susceptibility to fr... OMIM:619752
Acute Adrenal Insufficiency
Diarrhea, Nausea and vomiting, Weight loss, Anorexia, Renal salt wasting, Abdominal pain, Androge... ORPHA:95409
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Pulmonary edema, Atrial septal defect, Tachycardia, Patent duc... ORPHA:980
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Recurrent upper respiratory tract infections, Insulin-resistant diabet... ORPHA:179494
Idiopathic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating lipid concentration, Hypertriglycerid... ORPHA:567548
Systemic-Onset Juvenile Idiopathic Arthritis
Pleural effusion, Splenomegaly, Skin rash, Lymphadenopathy, Arthritis, Hepatomegaly, Juvenile rhe... ORPHA:85414
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Hypoalbuminemia, Failure to thrive, Atrophic scars, Scarring, Enamel hypoplasia, Anemia, Craniosy... ORPHA:79396
Fanconi-Bickel Syndrome
Postprandial hyperglycemia, Generalized aminoaciduria, Intrahepatic cholestasis, Ketonuria, Glyco... OMIM:227810
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Nephropathy, Low-set ears, Hematuria, Neutropenia, Delirium, Hepatomegaly, Tachycardia, Macrotia,... OMIM:277400
Immunodeficiency 68
Lymphadenitis, Recurrent skin infections, Abscess, B lymphocytopenia, Septic arthritis, Abnormal ... OMIM:612260
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Recurrent upper respiratory tract infections, Recurrent pneumonia, Hypotension, Adrenocorticotrop... ORPHA:293978
Renal Nutcracker Syndrome
Varicocele, Renal artery stenosis, Dysmenorrhea, Hematuria, Proteinuria, Vulval varicose vein, Sy... ORPHA:71273
Gangliocytoma
Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Adrenocorticotropic hormone excess... ORPHA:251937
Cutis Laxa, Autosomal Recessive, Type Ia
Aortic regurgitation, Peripheral pulmonary artery stenosis, Emphysema, Oligohydramnios, Supravalv... OMIM:219100
Spastic Paraplegia 29, Autosomal Dominant
Vomiting, Urinary hesitancy, Sensorineural hearing impairment, Hiatus hernia, Nocturia, Urinary i... OMIM:609727
Addison Disease
Diarrhea, Adrenal calcification, Nausea and vomiting, Weight loss, Anorexia, Hypoparathyroidism, ... ORPHA:85138
Spherocytosis, Type 5
Abnormal leukocyte count, Splenomegaly, Reticulocytosis, Abnormal platelet count, Spherocytosis, ... OMIM:612690
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Hearing impairment, Recurrent otitis media, Facial capillary hemangi... OMIM:270400
Webb-Dattani Syndrome
Gastroesophageal reflux, Decreased response to growth hormone stimulation test, Obesity, Vesicour... OMIM:615926
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Mental deterioration, Optic atrophy, Leg muscle stiffness, Hearing impairment, Generalized limb m... ORPHA:137898
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal pelvic girdle bone morphology, Gastroesophageal reflux, Vomiting, Hiatus hernia, Carpal ... OMIM:601162
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Internally rotated shoulders, Cholestasis, Hepatosplenomegaly, Recurrent otitis med... OMIM:619503
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome
Conductive hearing impairment, Short femoral neck, Flared metaphysis, Short palm, Recurrent otiti... ORPHA:2502
Meier-Gorlin Syndrome 4
Low-set ears, Slender long bone, Failure to thrive, Emphysema, Breast hypoplasia, Patellar aplasi... OMIM:613804
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Rickets, Hypop... OMIM:241530
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal midbrain morphology, Hypoplasia of the pons, Short attention span, C... ORPHA:280195
Joubert Syndrome 36
Molar tooth sign on MRI, Sensorineural hearing impairment OMIM:618763
Igg4-Related Retroperitoneal Fibrosis
Rheumatoid arthritis, Psoriasiform dermatitis, Nausea and vomiting, Hematuria, Weight loss, Retro... ORPHA:49041
Bile Acid Conjugation Defect 1
Hepatic failure, Rickets, Elevated circulating aspartate aminotransferase concentration, Elevated... OMIM:619232
Lethal Congenital Contracture Syndrome Type 1
Limitation of joint mobility, Skeletal muscle atrophy, Low-set, posteriorly rotated ears, Abnorma... ORPHA:1486
45,X/46,Xy Mixed Gonadal Dysgenesis
Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Chordee, Abnormal internal genitalia, ... ORPHA:1772
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Failure to thrive, Lymphopenia, Hepatosplen... OMIM:242700
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Leukocytosis, Reticulocytosis, Splenomegaly, Anisocytosis, Heinz bodies, Fava bean-induced hemoly... OMIM:300908
Spastic Paraplegia Type 2
Optic atrophy, Pulmonary embolism, Spastic/hyperactive bladder, Recurrent respiratory infections,... ORPHA:99015
Primary Triglyceride Deposit Cardiomyovasculopathy
Rimmed vacuoles, Inflammatory abnormality of the skin, Cardiomyopathy, Abnormality of the shoulde... ORPHA:565612
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Aplasia of the 1st metaca... OMIM:617247
Hermansky-Pudlak Syndrome 10
Low-set ears, Cerebral atrophy, Splenomegaly, Neutropenia, Hepatomegaly, Abnormal pulmonary inter... OMIM:617050
Adenine Phosphoribosyltransferase Deficiency
Chronic kidney disease, Acute kidney injury, Oliguria, Abdominal colic, Urinary retention, Recurr... ORPHA:976
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, Abnormal lung morphology, Meckel diverticulum, Abnormal ea... ORPHA:141127
Caroli Syndrome
Hypersplenism, Congenital hepatic fibrosis, Cirrhosis, Abnormal ductus choledochus morphology, He... ORPHA:480520
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Increased circulating prolactin concentration, Hyperglycemia, Sensorineural... ORPHA:293987
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Cholelithiasis, Increased mean corpuscular hemoglobin concentration, Hepatitis, Splenomegaly, Inc... OMIM:194380
Autosomal Dominant Spastic Paraplegia Type 8
Urinary incontinence, Peroneal muscle atrophy, Urinary urgency, Lower limb muscle weakness ORPHA:100989
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Chylothorax, Erysipelas, Lymphoma, Pleural effusion, Protruding ear, Leukemia, Pan... ORPHA:2526
Congenital Disorder Of Glycosylation, Type Ib
Hypoalbuminemia, Failure to thrive OMIM:602579
Hemolytic Anemia, Nonspherocytic, Due To Glucose Phosphate Isomerase Deficiency
Spontaneous hemolytic crises, Cholelithiasis, Pigment gallstones, Splenomegaly, Cholecystitis, No... OMIM:613470
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, IgA deposition in the glomerulus, Anal fissure, Ankyloglossia, Urethral s... ORPHA:79408
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Allergic rhinitis, Atopic dermatitis, Gastroesophageal reflux, Vomiting, Failure to thrive, Eosin... ORPHA:411696
Immunodeficiency 47
Accessory spleen, Normocytic anemia, Hepatic bridging fibrosis, Hepatic fibrosis, Elevated circul... OMIM:300972
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Low urinary cyclic AMP response to PTH administra... OMIM:603233
Autosomal Dominant Spastic Paraplegia Type 10
Hearing impairment, Lower limb muscle weakness, Leg muscle stiffness, Distal lower limb amyotroph... ORPHA:100991
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent pneumonia, Gastroesophageal reflux, Recurrent upper respiratory tract infections, Ventr... OMIM:619769
Autoinflammatory Disease, Systemic, X-Linked
Osteomyelitis, Hepatosplenomegaly, B lymphocytopenia, Neutropenia, Cerebral hemorrhage, Panniculitis OMIM:301081
Autoimmune Polyendocrine Syndrome, Type Ii
Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exocrine pancreatic insufficiency, Primary... OMIM:269200
Pseudohypoparathyroidism Type 1A
Low urinary cyclic AMP response to PTH administration, Sensorineural hearing impairment, Calcinos... ORPHA:79443
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Optic atrophy, Recurrent pneumonia, Lateral ventricle dilata... OMIM:612301
Familial Idiopathic Dilatation Of The Right Atrium
Abnormality of the hepatic vasculature, Atrioventricular block, Complete heart block with narrow ... ORPHA:1677
Truncus Arteriosus
Ventricular septal defect, Pulmonary edema, Atrial septal defect, Tachycardia, Patent ductus arte... ORPHA:3384
Degcags Syndrome
Chronic kidney disease, Low-set ears, Hearing impairment, Cholestasis, Hepatosplenomegaly, Pancyt... OMIM:619488
Joubert Syndrome 13
Molar tooth sign on MRI OMIM:614173
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Epistaxis, Acute monocytic leukemia, Lymphoma, Abnormal dense granule content, Abnormal platelet ... OMIM:601399
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Tapered toe, Alopecia, Sparse eyebrow, Celiac disease, Bilateral cryptorchidism, Macrotia, Large ... ORPHA:544488
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Niemann-Pick Disease, Type C1
Fetal ascites, Sea-blue histiocytosis, Dementia, Splenomegaly, Fatal liver failure in infancy, Pr... OMIM:257220
Hypokalemic Periodic Paralysis
Postprandial hyperglycemia, Adrenocortical adenoma, Increased intramyocellular lipid droplets, Ab... ORPHA:681
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Neonatal Marfan Syndrome
Low-set ears, Abnormal cardiac ventricle morphology, Crumpled ear, High, narrow palate, Tricuspid... ORPHA:284979
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
Hepatic fibrosis, Hepatic failure, Orthokeratosis, Cholestasis, Portal hypertension, Splenomegaly... OMIM:607626
Distal Renal Tubular Acidosis
Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Rickets, Osteomalacia, Low-molecular-weigh... ORPHA:18
Localized Scleroderma
Vasculitis, Gastroesophageal reflux, Skeletal muscle atrophy, Fasciitis, Sclerosis of finger phal... ORPHA:90289
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hepatomegaly, Optic disc pallor, Generalized aminoaciduria, Cerebral atrophy, Increased susceptib... ORPHA:404454
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Low-set ears, Contracture of the distal interphalangeal joint of the fingers, Cryptorchidism, Sup... ORPHA:83617
Carney Complex, Type 1
Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid carcinoma, Thyroid follicu... OMIM:160980
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia
Recurrent respiratory infections, Leukocytosis, Splenomegaly, Intraalveolar phospholipid accumula... OMIM:618042
Retinoblastoma
Pineoblastoma, Glioma, Lymphoma, Hyphema, Subretinal pigment epithelium hemorrhage, Ewing sarcoma... ORPHA:790
Immunodeficiency 81
Abnormally low T cell receptor excision circle level, Autoimmune hemolytic anemia, Decreased prop... OMIM:619374
Lipodystrophy, Familial Partial, Type 2
Insulin-resistant diabetes mellitus, Hyperglycemia, Hyperinsulinemia, Increased intramuscular fat... OMIM:151660
Familial Expansile Osteolysis
Conductive hearing impairment, Hydroxyprolinuria, Pathologic fracture, Thin bony cortex, Osteolysis OMIM:174810
Nephrotic Syndrome, Type 8
Hypoalbuminemia OMIM:615244
Leukodystrophy, Hypomyelinating, 13
Delayed brainstem auditory evoked response conduction time, Optic atrophy, Vomiting, Failure to t... OMIM:616881
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, High, narrow palate, Tall stature, Transient ischemic attack, Ischemic stro... ORPHA:91387
Juvenile Polyposis Syndrome
Hypoalbuminemia, Anemia, Failure to thrive, Hypokalemia OMIM:174900
Lysinuric Protein Intolerance
Hemophagocytosis, Hepatosplenomegaly, Cirrhosis, Cognitive impairment, Glomerulonephritis, Hepato... ORPHA:470
Birt-Hogg-Dubé Syndrome
Emphysema, Medullary thyroid carcinoma, Pneumothorax, Renal cell carcinoma, Parathyroid adenoma, ... ORPHA:122
Neutral Lipid Storage Disease With Ichthyosis
Small earlobe, Elevated circulating hepatic transaminase concentration, Central nervous system de... ORPHA:98907
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hyperglycemia, Proximal amyotrophy OMIM:604484
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Low-set ears, Hematochezia, High, narrow palate, Peripheral pulmonary artery stenosis, Failure to... OMIM:619575
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb amyotrophy, Urinary urgency, Hand muscle weakness ORPHA:320355
Chronic Granulomatous Disease
Eczematoid dermatitis, Recurrent respiratory infections, Splenomegaly, Otitis media, Hepatomegaly... ORPHA:379
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, He... OMIM:619183
Mucolipidosis Type Ii
Abnormal atrioventricular valve physiology, Limitation of joint mobility, Hepatosplenomegaly, Mit... ORPHA:576
Kabuki Syndrome
Small hand, Cryptorchidism, Congenital diaphragmatic hernia, Sensorineural hearing impairment, Re... ORPHA:2322
Infant Acute Respiratory Distress Syndrome
Pneumonia, Hypotension, Atelectasis, Respiratory tract infection, Pulmonary edema, Bradycardia, T... ORPHA:70587
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Low-set ears, Bronchiectasis, Vomiting, Peripher... ORPHA:90348
Juvenile Polyposis Of Infancy
Hypoalbuminemia, Subcutaneous lipoma, Abnormal heart morphology, Cachexia, Atrial septal defect, ... ORPHA:79076
Coach Syndrome 2
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Conge... OMIM:619111
Gitelman Syndrome
Hypotension, Hypocalciuria, Enuresis, Renal magnesium wasting, Failure to thrive, Vomiting, Palpi... OMIM:263800
Alpha-1-Antitrypsin Deficiency
Hepatic failure, Hepatitis, Bronchitis, Cholestasis, Emphysema, Jaundice, Cirrhosis, Hepatomegaly... ORPHA:60
Laterality Defects, Autosomal Dominant
Asplenia OMIM:601086
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Aminoaciduria, Nephrocalcinosis, Glycosuria, Hypoglycemia, Large for gestational age, Hyperphosph... OMIM:616026
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Vasculitis, Inflammation of the large intestine, Hematochezia, Recurrent pneumonia, Failure to th... OMIM:617718
Idiopathic Chronic Eosinophilic Pneumonia
Atopic dermatitis, Atelectasis, Pleural effusion, Abnormality of the gastrointestinal tract, Weig... ORPHA:2902
Spastic Paraplegia 15, Autosomal Recessive
Distal amyotrophy, Lower limb muscle weakness, Urinary bladder sphincter dysfunction, Urinary inc... OMIM:270700
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Broad long bones, Broad phalanx, High palate, Short metacarpal, Calcification of cartilage, Knee ... OMIM:271665
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Pulmonary lymphangiectasia, Hypospadias, Patent ductus arteriosus, Annular pancreas... OMIM:265380
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Pancytopenia, Skin rash, ... OMIM:277380
Psoriasis 14, Pustular
Psoriasiform dermatitis, Leukocytosis, Pustule, Parakeratosis, Oligoarthritis, Neutrophilia, Chol... OMIM:614204
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Low-set ears, Highly arched eyebrow, Long eyelashes, Frontal upsweep of hair, Urinary urgency, Fe... OMIM:619286
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosi... ORPHA:2658
Spondylometaphyseal Dysplasia, Sedaghatian Type
Atrioventricular block, Cone-shaped epiphysis, Rhizomelic arm shortening, Iliac crest serration, ... ORPHA:93317
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Limitation of joint mobility, Abnormal cortical bone morphology ORPHA:166277
Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, And Migraine Headache Syndrome
Pancytopenia, Splenomegaly, Anhidrosis OMIM:614979
Hemophagocytic Syndrome Associated With An Infection
Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Pancytopenia, Abnormal... ORPHA:158048
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Synostosis of carpal bones, Absent earlobe, Horseshoe kidney, Low-se... ORPHA:221120
Transcobalamin Ii Deficiency
Methylmalonic aciduria, Pancytopenia, Megaloblastic bone marrow, Macrocytic anemia, Irritability,... OMIM:275350
Machado-Joseph Disease
Distal amyotrophy, Urinary bladder sphincter dysfunction, Abnormal autonomic nervous system physi... OMIM:109150
Hyperparathyroidism, Neonatal Severe
Aminoaciduria, Elevated circulating parathyroid hormone level, Splenomegaly, Hyperphosphaturia, H... OMIM:239200
Porphyria, Acute Intermittent
Diarrhea, Vomiting, Urinary retention, Hypertension, Paralytic ileus, Nausea, Constipation, Abdom... OMIM:176000
Nephronophthisis 19
Malformation of the hepatic ductal plate, Hepatic fibrosis, Nephronophthisis, Cholestasis, Stage ... OMIM:616217
Spinocerebellar Ataxia 10
Urinary incontinence, Decreased nerve conduction velocity, Dementia, Dysphagia, Urinary urgency OMIM:603516
Autosomal Dominant Spastic Paraplegia Type 37
Urinary urgency, Lower limb muscle weakness ORPHA:171612
Wiskott-Aldrich Syndrome
Nephropathy, Epistaxis, Inflammation of the large intestine, Recurrent pneumonia, Diarrhea, Eczem... OMIM:301000
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Limb-girdle muscular dystrophy, Right ventricular dilatation, Myopathy ORPHA:369847
9Q33.3Q34.11 Microdeletion Syndrome
Low-set ears, Highly arched eyebrow, Epistaxis, Patellar hypoplasia, Esophagitis, Patellar aplasi... ORPHA:495818
Neuroblastoma
Elevated circulating catecholamine level, Irritability ORPHA:635
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Respiratory tract infection, Chronic bronchitis, Weight loss, Honeycomb lung, Clubbing... ORPHA:79127
Drug-Induced Autoimmune Hemolytic Anemia
Abnormal urinary color, Congestive heart failure, Splenomegaly, Autoimmune hemolytic anemia, Tach... ORPHA:90037
Cholestasis, Progressive Familial Intrahepatic, 9
Malformation of the hepatic ductal plate, Intrahepatic cholestasis, Micronodular cirrhosis, Porta... OMIM:619849
Hinman Syndrome
Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, C... ORPHA:84085
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Nodular regenerative hyperplasia of liver, Usual interstitial pneumonia, Hepatic failure, Increas... OMIM:620367
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Abnormal B cell morphology, Cupped ear, Decreased response to growth hormone stimul... OMIM:618223
Paternal Uniparental Disomy Of Chromosome 6
Precocious puberty, Neonatal insulin-dependent diabetes mellitus, Abnormal earlobe morphology, Ol... ORPHA:96191
Visceral Myopathy 1
Microcolon, Vomiting, Diarrhea, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Mal... OMIM:155310
Carpenter Syndrome 2
Low-set ears, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryptorchidism, Sen... OMIM:614976
Meier-Gorlin Syndrome 6
Small for gestational age, Conductive hearing impairment, Sandal gap, Failure to thrive, Gastroes... OMIM:616835
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Hearing impairment, Abnormality of the hairline, Cryptorchidism, Sensorineural hear... OMIM:607872
Pgm3-Cdg
Reduced natural killer cell count, Abnormal CD4:CD8 ratio, Failure to thrive, Cutaneous abscess, ... ORPHA:443811
Purine Nucleoside Phosphorylase Deficiency
Hypouricemia, Lymphopenia, Autoimmune hemolytic anemia, Abnormal T cell morphology, Decreased pro... ORPHA:760
Wolfram Syndrome 2
Oligomenorrhea, Primary amenorrhea OMIM:604928
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Chondrodysplasia, Blomstrand Type
Fetal ascites, Micromelia, Flared metaphysis, Advanced ossification of carpal bones, Polyhydramni... OMIM:215045
Right Atrial Isomerism
Total anomalous pulmonary venous return, Pulmonary artery atresia, Polysplenia, Abnormal lung lob... OMIM:208530
Tako-Tsubo Cardiomyopathy
Dilatation of the ventricular cavity, Mitral regurgitation, Pulmonary edema, Arrhythmia, Ventricu... ORPHA:66529
Hypophosphatasia
Failure to thrive in infancy, Emphysema, Bowing of the long bones, Feeding difficulties in infanc... ORPHA:436
Low Phospholipid-Associated Cholelithiasis
Intrahepatic cholestasis, Cholelithiasis, Biliary cirrhosis, Abdominal colic, Obesity, Cholecysti... ORPHA:69663
Nocardiosis
Lymphadenitis, Scleritis, Weight loss, Anorexia, Endocarditis, Cutaneous abscess, Osteomyelitis, ... ORPHA:31204
Overhydrated Hereditary Stomatocytosis
Stomatocytosis, Increased mean corpuscular volume, Pulmonary embolism, Splenomegaly, Reticulocyto... OMIM:185000
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatic fibrosis, Periportal fibrosis, Multiple small medullary renal cysts, Portal hypertension,... OMIM:263200
Spinocerebellar Ataxia 2
Urinary incontinence, Distal amyotrophy, Urinary bladder sphincter dysfunction, Dementia, Dysphagia OMIM:183090
Immunodeficiency 110 With Lymphoproliferation
Secundum atrial septal defect, Lymphopenia, Autoimmune hemolytic anemia, Patent foramen ovale, Ne... OMIM:614868
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Short tibia, Thumb contracture, Hypoplastic iliac wing, Hepatosplenomegaly,... ORPHA:96334
Superficial Siderosis
Memory impairment, Functional abnormality of the bladder, Vomiting, Lower limb muscle weakness, A... ORPHA:247245
Spastic Paraplegia 26, Autosomal Recessive
Upper limb muscle weakness, Lower limb muscle weakness, Decreased serum testosterone concentratio... OMIM:609195
Osteopetrosis With Renal Tubular Acidosis
Pancytopenia, Proximal renal tubular acidosis, Hepatomegaly, Elliptocytosis, Secondary hyperparat... ORPHA:2785
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Hypotension, Dilated cardiomyopathy, Elevated circulating hepatic tran... ORPHA:20
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Atresia of the external auditory canal, Auricular tag... ORPHA:672
Down Syndrome
Conductive hearing impairment, Acute megakaryocytic leukemia, Joint hypermobility, Pulmonary arte... OMIM:190685
Spondyloarthropathy, Susceptibility To, 1
Aortic regurgitation, Hip osteoarthritis, Inflammation of the large intestine, Sacroiliac arthrit... OMIM:106300
Hemorrhagic Fever-Renal Syndrome
Chronic kidney disease, Pulmonary edema, Hematuria, Glomerulonephritis, Tubulointerstitial nephri... ORPHA:340
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Annular pancreas, Absent gallbladder, Hydronephrosis, Aganglionic megacolo... ORPHA:210122
Meningioma
Increased circulating prolactin concentration, Lower limb muscle weakness, Nausea and vomiting, N... ORPHA:2495
Bardet-Biedl Syndrome 20
Male hypogonadism, Bilateral cryptorchidism, Preaxial foot polydactyly, Obesity, 2-3 toe syndacty... OMIM:619471
Hypophosphatemic Rickets, X-Linked Recessive
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Nephrocalcinosi... OMIM:300554
Niemann-Pick Disease, Type C2
Fetal ascites, Sea-blue histiocytosis, Dementia, Splenomegaly, Hepatomegaly, Pulmonary fibrosis, ... OMIM:607625
Bile Acid Synthesis Defect, Congenital, 3
Hepatic bridging fibrosis, Intrahepatic cholestasis, Hematochezia, Hepatic failure, Hepatitis, El... OMIM:613812
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Cholestatic liver disease, Inflammation of the large intestine, Cholestasis, Interface hepatitis,... ORPHA:562639
Fg Syndrome Type 1
Small pituitary gland, Optic nerve hypoplasia, Cupped ear, Stenosis of the external auditory cana... ORPHA:93932
Granulomatous Disease, Chronic, Autosomal Recessive, 3
Perioral eczema, Diarrhea, Anoperineal fistula, Recurrent aphthous stomatitis, Recurrent sinusiti... OMIM:613960
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Clinodactyly, Hearing impairment, Hypoplastic iliac wing, Ov... OMIM:139210
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Anoperineal fistula, Failure to thrive, Pancolitis, Eosinophilic infiltration of the esophagus, P... OMIM:618213
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Osteopenia, Reduced natural killer cell count, Unilateral renal agenesis, Optic nerve hypoplasia,... ORPHA:221139
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Epistaxis, Stomatocytosis, Splenomegaly, Thrombocytopenia, Hemolytic anemia, Menorrhagia, Increas... OMIM:153670
Pneumocystosis
Neoplasm, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, Acute infectious ... ORPHA:723
Occipital Horn Syndrome
Cholestasis, Humerus varus, Genu valgum, Esophagitis, Abnormal fibula morphology, Short palm, Jau... ORPHA:198
Kallmann Syndrome
Renal agenesis, Breast hypoplasia, Decreased testicular size, Hypothalamic gonadotropin-releasing... ORPHA:478
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Gastroesophageal reflux, Prominent antihelix, Prominent fingertip pads, Hearing impairment, Nasog... ORPHA:466950
Cockayne Syndrome
Mental deterioration, Absence of pubertal development, Cryptorchidism, Cognitive impairment, Urin... ORPHA:191
Fragile X-Associated Tremor/Ataxia Syndrome
Hypotension, Memory impairment, Impotence, Urinary bladder sphincter dysfunction, Hypertension, H... ORPHA:93256
Cryptogenic Organizing Pneumonia
Pneumothorax, Leukocytosis, Neutrophilia ORPHA:1302
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Ret... ORPHA:288
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Porphyria, Congenital Erythropoietic
Osteopenia, Cholelithiasis, Joint contracture of the hand, Pathologic fracture, Splenomegaly, Red... OMIM:263700
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Cholestasis, Hepatosplenomegaly, Congenital hepatic fibrosis, Hepatomegaly, Osteope... OMIM:266920
Genetic Steroid-Resistant Nephrotic Syndrome
Hypoalbuminemia ORPHA:656
Pitt-Hopkins Syndrome
Small hand, Abnormal helix morphology, Gastroesophageal reflux, Failure to thrive, Finger clinoda... ORPHA:2896
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Nep... ORPHA:93160
Alexander Disease Type Ii
Limb muscle weakness, Dysphagia, Abnormal autonomic nervous system physiology, Urinary bladder sp... ORPHA:363722
Dent Disease 1
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, ... OMIM:300009
Overhydrated Hereditary Stomatocytosis
Abnormal mean corpuscular volume, Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis... ORPHA:3203
Granulomatous Disease, Chronic, Autosomal Recessive, 1
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233710
Spherocytosis, Type 1
Cholelithiasis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:182900
Rh Deficiency Syndrome
Stomatocytosis, Hepatosplenomegaly, Reticulocytosis, Macrocytic anemia, Anisocytosis, Spherocytos... ORPHA:71275
Osteogenesis Imperfecta
Hearing impairment, Decreased skull ossification, Visceral angiomatosis, Aortic regurgitation, Os... ORPHA:666
Pearson Marrow-Pancreas Syndrome
3-Methylglutaric aciduria, Type I diabetes mellitus, Hepatic failure, Elevated circulating hepati... OMIM:557000
Familial Aortic Dissection
Aortic regurgitation, Abnormal left ventricular function, Cardiomegaly, Patent ductus arteriosus ORPHA:229
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hearing impairment, Ankyloglossia, Genu valgum, Hepatic steatosis, Ventricular septal defect, Hem... OMIM:619475
Thrombotic Thrombocytopenic Purpura, Hereditary
Microangiopathic hemolytic anemia, Confusion, Transient ischemic attack, Reticulocytosis, Protein... OMIM:274150
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Absent gallbladder, Arachnodactyly, Feeding difficulties in inf... ORPHA:500150
Granulomatous Disease, Chronic, Autosomal Recessive, 4
Discoid lupus rash, Recurrent pneumonia, Lymphadenitis, Eczematoid dermatitis, Osteomyelitis, Imp... OMIM:233690
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency
Eczematoid dermatitis, Atelectasis, Abnormal hair morphology, Osteomyelitis, Skin rash, Dystrophi... ORPHA:2314
Arima Syndrome
Hepatic fibrosis, Optic atrophy, Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplas... OMIM:243910
Mucopolysaccharidosis Type 2
Mental deterioration, Limitation of joint mobility, Sensorineural hearing impairment, Enlarged to... ORPHA:580
Generalized Glucocorticoid Resistance Syndrome
Precocious puberty, Female pseudohermaphroditism, Adrenal hyperplasia, Ambiguous genitalia, Oligo... ORPHA:786
Proteus Syndrome
Low-set ears, Pulmonary cyst, Rib exostoses, Decreased muscle mass, Myofibrillar myopathy, Exosto... ORPHA:744
Familial Tumoral Calcinosis
Neoplasm of the skin, Nephrocalcinosis, Hyperostosis, Splenomegaly, Skin rash, Hyperhidrosis, Hep... ORPHA:53715
Tarp Syndrome
Clinodactyly, Micrognathia, Single transverse palmar crease, Postaxial polydactyly, Talipes equin... OMIM:311900
Storage Pool Platelet Disease
Decreased mean platelet volume, Acute leukemia, Myelodysplasia OMIM:185050
Tumor Predisposition Syndrome 2
Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve... OMIM:619975
Allergic Bronchopulmonary Aspergillosis
Emphysema, Pulmonary arterial hypertension, Weight loss, Bronchiectasis ORPHA:1164
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia OMIM:619767
Osteogenesis Imperfecta, Type Xxii
Hearing impairment, Decreased circulating osteocalcin level, Thin bony cortex, Multiple prenatal ... OMIM:619795
Lmna-Related Cardiocutaneous Progeria Syndrome
Aortic valve stenosis, Alopecia universalis, Ventricular hypertrophy, Premature graying of hair, ... ORPHA:363618
Galloway-Mowat Syndrome 3
Hypoalbuminemia, Camptodactyly, Hiatus hernia, Failure to thrive OMIM:617729
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Hypoplastic coccygeal vertebrae, Increased mean corpuscular volume, Absent thum... OMIM:105650
Autosomal Recessive Spastic Paraplegia Type 11
Mental deterioration, Memory impairment, Distal amyotrophy, Lower limb muscle weakness, Generaliz... ORPHA:2822
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Birth length greater than 97th percentile, Hip contracture, Cirrhosis, Hypsar... OMIM:300868
Kawasaki Disease
Hypoalbuminemia, Double outlet right ventricle with subpulmonary ventricular septal defect withou... ORPHA:2331
Axial Osteomalacia
Osteomalacia, Myopathy, Renal cyst, Increased bone mineral density, Polycystic liver disease OMIM:109130
Gaucher Disease, Type Ii
Progressive neurologic deterioration, Bronchiolitis, Cerebral atrophy, Splenomegaly, Hepatomegaly... OMIM:230900
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Secundum atrial septal defect, Congestive heart failure, Tricuspid regurgit... OMIM:620066
Double Outlet Left Ventricle
Failure to thrive, Cryptorchidism, Abnormal right ventricular function, Cardiomegaly, Ventricular... ORPHA:3427
Choreoacanthocytosis
Mental deterioration, Lateral ventricle dilatation, Muscle fiber atrophy, Acanthocytosis, Emotion... ORPHA:2388
Joubert Syndrome 18
Horseshoe kidney, Agenesis of corpus callosum, Joint hypermobility, Renal cyst, Intrahepatic bili... OMIM:614815
Sitosterolemia 1
Stomatocytosis, Giant platelets, Reticulocytosis, Splenomegaly, Episodic hemolytic anemia, Thromb... OMIM:210250
Hypophosphatemic Rickets, Autosomal Recessive, 1
Rickets, Hypophosphatemic rickets, Sensorineural hearing impairment, Craniosynostosis, Increased ... OMIM:241520
Arachnoid Cyst
Memory impairment, Abnormal large intestine physiology, Lower limb muscle weakness, Urinary bladd... ORPHA:2356
Hereditary Late-Onset Parkinson Disease
Mental deterioration, Chronic constipation, Orthostatic hypotension due to autonomic dysfunction,... ORPHA:411602
Bardet-Biedl Syndrome 6
Obesity, Postaxial polydactyly, Renal cyst, Syndactyly, Hypospadias, Diabetes mellitus OMIM:605231
Aspartylglucosaminuria
Recurrent respiratory infections, Joint stiffness, Aspartylglucosaminuria, Abnormal cortical bone... ORPHA:93
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small pituitary gland, Decreased serum estradiol, Absence of secondary sex characteristics, Breas... ORPHA:2232
Meige Disease
Absence of lymph node germinal center, Cobblestone-like hyperkeratosis, Lymph node hypoplasia, Pl... ORPHA:90186
Vacterl With Hydrocephalus
Absence of the sacrum, Micrognathia, Cryptorchidism, Inguinal hernia, Abnormal fallopian tube mor... ORPHA:3412
Spastic Ataxia, Charlevoix-Saguenay Type
Peroneal muscle atrophy, Swan neck-like deformities of the fingers, Distal amyotrophy, Decreased ... OMIM:270550
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethra... OMIM:619522
Congenital Erythropoietic Porphyria
Osteopenia, Neoplasm of the skin, Red-brown urine, Purple urine, Leukopenia, Erythroid hyperplasi... ORPHA:79277
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Osteomalacia, Pathologic fracture, Medullary nephrocalcinosis, Hypophosphatemic rickets, Reduced ... ORPHA:157215
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra... OMIM:600081
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Abnormal heart morphology, Large for gestational age, Diastasis recti, Ventricular septal defect,... ORPHA:254534
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Renal insufficiency, Reticulocytosis, Rhabdomyolysis, Myopathy, Myoglobinuria, Hemolytic anemia, ... ORPHA:713
Immunodeficiency 59 And Hypoglycemia
Recurrent upper respiratory tract infections, Arteritis, Acne inversa, Prolonged neonatal jaundic... OMIM:233600
Paternal Uniparental Disomy Of Chromosome 1
Progressive psychomotor deterioration, Anhidrosis, Obesity, Proteinuria, Delayed puberty, Membran... ORPHA:251004
Hereditary Orotic Aciduria
Aminoaciduria, Oroticaciduria, Abnormality of the ureter, Low-set, posteriorly rotated ears, Sple... ORPHA:30
Fanconi Renotubular Syndrome 2
Renal phosphate wasting, Osteopenia, Generalized aminoaciduria, Proximal tubulopathy, Rickets, El... OMIM:613388
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Hypoalbuminemia, Small for gestational age, Failure to thrive, Elevated circulating creatine kina... OMIM:619055
Hellp Syndrome
Generalized edema, Acute kidney injury, Hypotension, Vomiting, Pleural effusion, Proteinuria, Pul... ORPHA:244242
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Hypoalbuminemia, Thrombocytopenia, Normochromic anemia OMIM:254900
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Hearing impairment, Over... OMIM:613406
Tuberous Sclerosis Complex
Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma, Parathyroid adenoma, Angiofibr... ORPHA:805
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal cupping, Flat glenoid fossa, Irregular iliac crest, Conductive hearing impairment, Re... OMIM:250420
Abdominal Obesity-Metabolic Syndrome 3
Coronary artery stenosis, Hyperglycemia, Type II diabetes mellitus, Truncal obesity, Abdominal ob... OMIM:615812
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Reynolds Syndrome
Gastrointestinal hemorrhage, Biliary cirrhosis, Elevated circulating hepatic transaminase concent... OMIM:613471
Meckel Syndrome
Accessory spleen, Optic atrophy, Multicystic kidney dysplasia, Low-set, posteriorly rotated ears,... ORPHA:564
Cranio-Osteoarthropathy
Eczematoid dermatitis, Joint stiffness, Abnormal cortical bone morphology, Arthritis, Osteoarthritis ORPHA:1525
Marfan Syndrome
Decreased muscle mass, Premature osteoarthritis, Tall stature, Mitral regurgitation, Mitral valve... OMIM:154700
Thauvin-Robinet-Faivre Syndrome
Pedal edema, Long hallux, Bifid ureter, Tall stature, Large for gestational age, Mitral valve pro... OMIM:617107
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Hypogonadism, Splenomegaly, Sensorineural hearing impairment, Aganglionic megacolon, Arrhythmia, ... ORPHA:163746
Autosomal Recessive Malignant Osteopetrosis
Hearing impairment, Optic nerve compression, Splenomegaly, Otitis media, Hepatomegaly, Pulmonary ... ORPHA:667
East Syndrome
Abnormal urinary electrolyte concentration, Renal magnesium wasting, Lower limb muscle weakness, ... ORPHA:199343
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna OMIM:276822
Orofaciodigital Syndrome Xv
Hydronephrosis, Low-set ears, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Aminoaciduria, Osteopenia, Renal hypoplasia, Nephrocalcinosis, Optic atrophy, Renal artery stenos... OMIM:617913
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Sensorineural hearing impairmen... ORPHA:500095
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Intraalveolar phospholipid accumulation, Choles... OMIM:615486
Posterior Urethral Valve
Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre... ORPHA:93110
Spinocerebellar Ataxia Type 13
Optic atrophy, Hearing impairment, Torticollis, Urinary incontinence, Optic disc pallor, Dysphagi... ORPHA:98768
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Cryptorchidism, Overfriendliness, Agenesis of corpus ... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Cryptorchidism, Overfriendliness, Agenesis of corpus ... ORPHA:363958
Multiple Sclerosis, Susceptibility To
Urinary incontinence, Urinary hesitancy OMIM:126200
Dend Syndrome
Vomiting, Hyperglycemia, Clinodactyly of the 4th finger, Hypsarrhythmia, Thickened ears, Dehydration ORPHA:79134
Osteopetrosis, Autosomal Recessive 3
Cranial hyperostosis, Extramedullary hematopoiesis, Hepatosplenomegaly, Distal renal tubular acid... OMIM:259730
Leukocyte Adhesion Deficiency Type Ii
Recurrent pneumonia, Conductive hearing impairment, Cerebral atrophy, Microcytic anemia, Recurren... ORPHA:99843
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Cortical thickening of long b... ORPHA:1310
Immunodeficiency 9
Failure to thrive, Lymphopenia, Hypoplasia of the thymus, Amelogenesis imperfecta, Abnormal natur... OMIM:612782
Immunodeficiency 17
Abnormal B cell morphology, Anoperineal fistula, Eczematoid dermatitis, Decreased proportion of C... OMIM:615607
Alagille Syndrome 1
Short distal phalanx of finger, Hypoplasia of the ulna OMIM:118450
Pyruvate Carboxylase Deficiency
Vomiting, Failure to thrive, Hypoglycemia, Anorexia, Hyperglycemia, Lacticaciduria, Hepatomegaly,... ORPHA:3008
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hepatic fibrosis, Cholelithiasis, Abnormality of the spleen, Hepatosplenomegaly, Pancytopenia, Az... ORPHA:2072
Iga Pemphigus
Pustule, Neutrophilic infiltration of the skin, Cutaneous abscess, Ulcerative colitis ORPHA:555905
Dysbetalipoproteinemia
Acute pancreatitis, Tendon xanthomatosis, Obesity, Gout, Hepatic steatosis, Angina pectoris, Hypo... ORPHA:412
Felty Syndrome
Rheumatoid arthritis, Splenomegaly, Neutropenia OMIM:134750
Galloway-Mowat Syndrome 1
Hypoalbuminemia, Joint contracture of the hand, Hiatus hernia, Camptodactyly, Small for gestation... OMIM:251300
Adult Polyglucosan Body Disease
Dementia, Urinary incontinence, Neurogenic bladder, Urinary bladder sphincter dysfunction ORPHA:206583
African Trypanosomiasis
Hepatosplenomegaly, Arrhythmia, Delirium, Jaundice, Hepatomegaly, Urinary incontinence, Third deg... ORPHA:3385
Paroxysmal Nocturnal Hemoglobinuria
Chronic kidney disease, Pancytopenia, Hemosiderinuria, Jaundice, Acute kidney injury, Renal insuf... ORPHA:447
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Acute kidney injury, Anuria, Microangiopathic hemolytic anemia, Reticulocytosis, Cognitive impair... OMIM:235400
Melnick-Needles Syndrome
Craniofacial hyperostosis, Hearing impairment, Vesicoureteral reflux, Abnormal cortical bone morp... ORPHA:2484
Metachromatic Leukodystrophy, Adult Form
Urinary incontinence, Optic atrophy, Depression, Memory impairment, Progressive psychomotor deter... ORPHA:309271
Blau Syndrome
Nephropathy, Limitation of joint mobility, Camptodactyly of finger, Abnormality of the liver, Lar... ORPHA:90340
Short Fifth Metacarpals-Insulin Resistance Syndrome
Hyperinsulinemia, Spherocytosis, Splenomegaly ORPHA:66518
Congenital Disorder Of Glycosylation, Type Iiw
Low-set ears, Moderate albuminuria, Type I diabetes mellitus, Elevated circulating hepatic transa... OMIM:619525
Tetraamelia Syndrome 1
Low-set ears, Absent external genitalia, Pulmonary hypoplasia, Adrenal gland agenesis, Congenital... OMIM:273395
Oculodentodigital Dysplasia
Optic atrophy, Conductive hearing impairment, Hearing impairment, Cranial hyperostosis, Camptodac... ORPHA:2710
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypoglycemia, Decreased liver function, EEG with burst suppression, Hyperglycemia, Partial atriov... OMIM:620423
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Nephrocalcinosis, Rickets, Distal renal tubular acidosis, Hypercalciuria, Bilateral sensorineural... OMIM:602722
Herpes Simplex Virus Encephalitis
Leukocytosis, Neutrophilia ORPHA:1930
Spherocytosis, Type 2
Acanthocytosis, Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:616649
Keutel Syndrome
Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Pulmonary artery hypoplasia... OMIM:245150
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Clitoral hypertrophy, Long penis, Precocious puberty in females, Abnormality of the menstrual cyc... ORPHA:90794
Singleton-Merten Syndrome 1
Aortic valve stenosis, Aortic valve calcification, Shallow acetabular fossae, Hypoplastic distal ... OMIM:182250
Spastic Ataxia 3, Autosomal Recessive
Neurogenic bladder, Urinary urgency, Cognitive impairment, Hearing impairment OMIM:611390
Spherocytosis, Type 4
Splenomegaly, Reticulocytosis, Spherocytosis, Jaundice, Hemolytic anemia OMIM:612653
Eiken Syndrome
Delayed epiphyseal ossification, Abnormal trabecular bone morphology, Limited elbow flexion, Limi... ORPHA:79106
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Small hand, Obesity, Shortened PR interval, Ventricular septal defect, Ventricular... OMIM:614947
White-Kernohan Syndrome
Low-set ears, Gastroesophageal reflux, Hydroureter, Horizontal eyebrow, Anteriorly placed anus, H... OMIM:619426
Nephronophthisis 3
Hepatic fibrosis, Nephronophthisis, Failure to thrive, Stage 5 chronic kidney disease, Renal insu... OMIM:604387
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Anomalous pulmonary venous return, Partial anomalous pulmonary venous return, Asple... OMIM:619657
Interatrial Communication
Right ventricular dilatation, Atrial flutter, Secundum atrial septal defect, Congestive heart fai... ORPHA:1478
Kasabach-Merritt Phenomenon
Neoplasm of the skin, Microangiopathic hemolytic anemia, Capillary hemangioma, Leukopenia, Reticu... ORPHA:2330
Isolated Biliary Atresia
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... ORPHA:30391
Ehlers-Danlos Syndrome, Vascular Type
Periodontitis, Cryptorchidism, Mitral valve prolapse, Talipes equinovarus, Pulmonary bulla, Absen... OMIM:130050
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Reduction of neutrophil motility, Rectal ab... OMIM:608203
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Atopic dermatitis, Diarrhea, Vomiting, Absent brainstem auditory responses, Vestibular areflexia ORPHA:3240
Lymphatic Malformation 12
Fetal ascites, Lymphedema, Nonimmune hydrops fetalis, Polyhydramnios, Pleural thickening, Hydroce... OMIM:620014
Marfan Syndrome
Slender build, Mitral regurgitation, Mitral valve prolapse, Arachnodactyly, Cachexia, Protrusio a... ORPHA:558
Autosomal Dominant Spastic Paraplegia Type 9A
Urinary incontinence, Memory impairment, Mitral regurgitation, Sensorineural hearing impairment, ... ORPHA:447753
Respiratory Distress Syndrome In Premature Infants
Pulmonary edema, Atelectasis, Edema OMIM:267450
Multiple Myeloma
Nephropathy, Osteopenia, Acute kidney injury, Pathologic fracture, Pleural effusion, Splenomegaly... ORPHA:29073
Duane Retraction Syndrome
Preaxial hand polydactyly, Micrognathia, Talipes equinovarus, Aplasia/Hypoplasia of the thumb, Tr... ORPHA:233
Tarp Syndrome
Finger syndactyly, Clinodactyly, Extramedullary hematopoiesis, Hypoplasia of proximal radius, Mic... ORPHA:2886
Testicular Agenesis
Decreased serum testosterone concentration, Absent testis, Vanishing testis, Increased circulatin... ORPHA:325124
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased response to growth hormone stimulation test, Cholestasis, Adrenal insufficiency, Obesit... OMIM:609734
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Calcification of the auricular cartilage, Conductive hearing impairment, Bilateral cryptorchidism... ORPHA:3042
Spondyloepimetaphyseal Dysplasia, X-Linked
Broad long bones, Broad phalanx, Flat acetabular roof, Short foot, Cone-shaped epiphyses of the p... OMIM:300106
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Atelectasis, Chronic sinusitis, Chronic rhinitis, B... ORPHA:922
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Right ventricular failure, Bronchitis, Interlobular septal thickening, S... ORPHA:60025
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short distal phalanx of finger, Renal hypoplasia, Gastroesophageal reflux, Eczematoid dermatitis,... OMIM:617157
Retinoblastoma
Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Vitreous hemorrhage, Leukemia, Osteosarcoma OMIM:180200
Feingold Syndrome 1
Accessory spleen, Low-set ears, Annular pancreas, Hearing impairment, Polysplenia, Asplenia, Tric... OMIM:164280
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Cardiomegaly, Bicuspid aor... ORPHA:1457
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Absent natural killer cells, Failure to thrive, Lymphopenia, Impaired lymphocyte transformation w... OMIM:600802
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Renal hypoplasia, Decreased testicular size, Leukocytosis, Hepatic steatosis, Hypo... OMIM:619321
Acute Transverse Myelitis
Urinary retention, Upper limb muscle weakness, Urinary bladder sphincter dysfunction, Autonomic b... ORPHA:139417
Fructose Intolerance, Hereditary
Gastrointestinal hemorrhage, Transient aminoaciduria, Proximal tubulopathy, Glycosuria, Hypoglyce... OMIM:229600
Arterial Calcification, Generalized, Of Infancy, 1
Dilated cardiomyopathy, Congestive heart failure, Renal artery stenosis, Cardiomegaly, Hypertensi... OMIM:208000
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema, Hepatic failure, Cirrhosis, Portal hypertension OMIM:210050
Cryohydrocytosis
Stomatocytosis, Hemolytic anemia, Splenomegaly, Reticulocytosis OMIM:185020
Syndactyly-Telecanthus-Anogenital And Renal Malformations Syndrome
Clitoral hypertrophy, Toe syndactyly, Labial hypoplasia, Hypoplasia of the radius, Clinodactyly o... ORPHA:140952
Dent Disease
Delayed epiphyseal ossification, Renal phosphate wasting, Chronic kidney disease, Osteomalacia, H... ORPHA:1652
Icf Syndrome
Anemia, Lymphopenia, Abnormality of neutrophils, Umbilical hernia ORPHA:2268
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Short femoral neck, Flared metaphysis, Irregular epiphyses, Small epiphyses, Low anterior hairlin... OMIM:610442
Meckel Syndrome, Type 10
Malformation of the hepatic ductal plate, Renal cyst, Camptodactyly, Molar tooth sign on MRI, Mic... OMIM:614175
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Decreased response to growth hormo... ORPHA:90695
Craniopharyngioma
Optic atrophy, Hearing impairment, Increased circulating prolactin concentration, Hypopituitarism... ORPHA:54595
Spinocerebellar Ataxia Type 42
Psoriasiform dermatitis, Dysphagia, Urinary incontinence, Impotence, Urinary urgency ORPHA:458803
Heterotaxy, Visceral, 5, Autosomal
Total anomalous pulmonary venous return, Renal hypoplasia, Pulmonary artery atresia, Cerebellar a... OMIM:270100
Gaisböck Syndrome
Nephrocalcinosis, Peptic ulcer, Hypernatriuria, Elevated diastolic blood pressure, Obesity, Gout,... ORPHA:90041
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Hypohidrosis, Cognitive impairment, Orthostatic hypotension, Anhidrosis,... OMIM:146500
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Low-set ears, Joint contracture of the hand, Decreased circulating dehydroepiandrosterone concent... OMIM:201750
Hypophosphatemic Rickets, Autosomal Dominant
Renal phosphate wasting, Hypophosphatemic rickets, Rickets, Osteomalacia OMIM:193100
Lacrimoauriculodentodigital Syndrome
Toe syndactyly, Absent thumb, Abnormal salivary gland morphology, Finger syndactyly, Clinodactyly... ORPHA:2363
Hypophosphatasia, Adult
Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac... OMIM:146300
Hypercholanemia, Familial 1
Pruritus, Rickets OMIM:607748
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Pituitary prolactin cell adenoma... ORPHA:652
Fusariosis
Cellulitis, Granuloma, Brain abscess, Fasciitis, Lymphopenia, Osteomyelitis, Abnormality of the s... ORPHA:228119
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Esophagitis, Hepatic steatosis, Achalasia, EEG abnormality, Hip d... OMIM:615356
Maturity-Onset Diabetes Of The Young, Type 8, With Exocrine Dysfunction
Exocrine pancreatic insufficiency, Hyperglycemia, Abdominal pain, Maturity-onset diabetes of the ... OMIM:609812
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Elevated circulating hepatic transaminase concentration, Lateral ventricle dilatati... ORPHA:397715
Atelosteogenesis Type Iii
Hand clenching, Absent humerus, Elbow dislocation, Short tibia, Short tubular bones of the hand, ... ORPHA:56305
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Moderate albuminuria, Optic atrophy, Recurrent respiratory infections, Hypogonadism, EEG with bur... OMIM:614231
Hypocalciuric Hypercalcemia, Familial, Type Iii
Depression, Hypocalciuria, Osteomalacia, Multiple small medullary renal cysts, Renal insufficienc... OMIM:600740
Radio-Renal Syndrome
Micromelia, Micrognathia, Hypoplasia of the radius, Brachydactyly, Short palm, Abnormality of the... ORPHA:3015
Joubert Syndrome 15
Micropenis, Ambiguous genitalia, Molar tooth sign on MRI, Nephronophthisis OMIM:614464
Juvenile Xanthogranuloma
Myeloproliferative disorder, Hyphema ORPHA:158000
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Renal phosphate wasting, Pseudo-fractures, Osteomalacia, Ric... ORPHA:289176
Parkinson Disease, Late-Onset
Constipation, Abnormal autonomic nervous system physiology, Dementia, Dysphagia, Urinary urgency OMIM:168600
Mhc Class I Deficiency 1
Bronchiolitis, Emphysema, Recurrent bronchitis, Chronic sinusitis, Chronic otitis media, Bronchie... OMIM:604571
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Precocious puberty, Moderate albuminuria, Type I diabetes mellitus, Periodontitis, Short toe, Obe... OMIM:619269
Al-Gazali-Bakalinova Syndrome
Low-set ears, Brain atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Accessory spleen, Low-set ears, Hypoplasia of the brainstem, Simple ear, Molar tooth sign on MRI,... OMIM:619306
Maturity-Onset Diabetes Of The Young, Type 13
Maturity-onset diabetes of the young, Hyperglycemia, Abnormality of body mass index, Maternal dia... OMIM:616329
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Small hand, Postaxial foot polydactyly, Hearing impairment, ... OMIM:601803
Joubert Syndrome 3
Low-set ears, Nephronophthisis, Lateral ventricle dilatation, Stage 5 chronic kidney disease, Elo... OMIM:608629
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration OMIM:608747
Yellow Fever
Acute kidney injury, Pancreatic hyperplasia, Anuria, Shock, Reduced left ventricular ejection fra... ORPHA:99829
Fanconi Renotubular Syndrome 1
Aminoaciduria, Rickets, Glycosuria, Osteomalacia, Low-molecular-weight proteinuria, Renal insuffi... OMIM:134600
Aspartylglucosaminuria
Macroglossia, Recurrent respiratory infections, Cerebral atrophy, Pathologic fracture, Aspartylgl... OMIM:208400
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Recurrent otit... ORPHA:261537
Spinal Arteriovenous Metameric Syndrome
Congestive heart failure, Abnormality of the kidney, Urinary bladder sphincter dysfunction ORPHA:53721
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Hearing impairment, Lymphedema, Tinnitus, Cardiomegaly, Telangiectasia of the skin, Telangiectasi... ORPHA:79280
Emphysema, Hereditary Pulmonary
Emphysema, Chronic bronchitis OMIM:130700
Bardet-Biedl Syndrome 12
Postaxial foot polydactyly, Hydroureter, Hypogonadism, Obesity, Polydactyly, Hydronephrosis, Cogn... OMIM:615989
Joubert Syndrome 4
Nephronophthisis, Stage 5 chronic kidney disease, Renal insufficiency, Elongated superior cerebel... OMIM:609583
Monosomy 22Q13.3
Gastroesophageal reflux, Hearing impairment, Lymphedema, Palpebral edema, Long eyelashes, Recurre... ORPHA:48652
Dermatosparaxis Ehlers-Danlos Syndrome
Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis ORPHA:1901
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Low-set ears, Foot joint contracture, Hypoplasia of the pons, Abnor... ORPHA:444072
Hepatoerythropoietic Porphyria
Osteopenia, Red-brown urine, Purple urine, Erythroid hyperplasia, Splenomegaly, Red urine, Osteop... ORPHA:95159
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Unilateral renal agenesis, Recurrent pneumonia, Acute myelomonocytic leukemia, Macrotia, Cavernou... ORPHA:99646
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Recurrent fractures, Cryptorchidism, Thin bony cortex, Osteoporosis, Abnor... OMIM:309583
Duplication Of Urethra
Anuria, Recurrent urinary tract infections, Dysuria, Rectourethral fistula, Distal urethral dupli... ORPHA:237
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Multicystic kidney dysplasia, Lateral ventricle dilatation, Hyphema, Recur... ORPHA:261552
Renal Tubular Acidosis Iii
Nephrocalcinosis, Rickets, Osteomalacia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis OMIM:267200
Joubert Syndrome 14
Low-set ears, Optic atrophy, Hypoplasia of the brainstem, Irritability, Renal cyst, Posteriorly r... OMIM:614424
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Rickets, Glycosuria, Hearing impairment, Stage 5 chronic kidney disease, Sensorine... OMIM:268315
Renal Tubular Acidosis, Distal, 1
Nephrocalcinosis, Osteomalacia, Pathologic fracture, Distal renal tubular acidosis, Impaired urin... OMIM:179800
Spinocerebellar Ataxia, Autosomal Recessive 7
Dysphagia, Urinary urgency OMIM:609270
Cole Disease
Abnormal hair morphology, Hyperglycemia OMIM:615522
Hereditary Hemorrhagic Telangiectasia
Nasal mucosa telangiectasia, Telangiectasia, Hematuria, Cirrhosis, Visceral angiomatosis, Retinal... ORPHA:774
Surfactant Metabolism Dysfunction, Pulmonary, 3
Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv... OMIM:610921
Diabetes Mellitus, Permanent Neonatal, 4
Hyperglycemia, Type I diabetes mellitus, Small for gestational age, Diabetic ketoacidosis OMIM:618858
Gaucher Disease, Type Iiic
Aortic valve calcification, Splenomegaly, Mitral stenosis, Cardiomegaly, Mitral valve calcificati... OMIM:231005
Immunodeficiency 89 And Autoimmunity
Crohn's disease, Pulmonary bulla, Pleural thickening, Recurrent lower respiratory tract infection... OMIM:619632
Renal Tubular Acidosis, Proximal
Proximal renal tubular acidosis, Hypercalciuria, Rickets, Osteomalacia OMIM:179830
Diabetes Mellitus, Permanent Neonatal, 1
Hyperglycemia, Type I diabetes mellitus, Diabetes mellitus, Small for gestational age OMIM:606176
Simpson-Golabi-Behmel Syndrome, Type 1
Hearing impairment, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Agenes... OMIM:312870
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Leptospirosis
Hypotension, Acute kidney injury, Subconjunctival hemorrhage, Hepatitis, Pulmonary hemorrhage, Pl... ORPHA:509
Fanconi Renotubular Syndrome 3
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Renal insufficiency, Hyperp... OMIM:615605
Ascites, Chylous
Chylous ascites OMIM:208300
Joubert Syndrome 30
Cerebellar atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617622
Stüve-Wiedemann Syndrome
Osteopenia, Limitation of joint mobility, Camptodactyly of finger, Elbow flexion contracture, Abn... ORPHA:3206
Primary Fanconi Renotubular Syndrome
Renal phosphate wasting, Chronic kidney disease, Generalized aminoaciduria, Glycosuria, Hypoglyce... ORPHA:3337
Joubert Syndrome 9
Hepatic fibrosis, Stage 5 chronic kidney disease, Molar tooth sign on MRI OMIM:612285
Heterotaxy, Visceral, 2, Autosomal
Asplenia, Abdominal situs inversus, Polysplenia, Agenesis of corpus callosum OMIM:605376
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Recurrent otitis media, Recurrent sinusitis, B lymphocytopenia, Neutropenia,... OMIM:601495
Familial Pseudohyperkalemia
Stomatocytosis, Increased mean corpuscular volume, Reticulocytosis, Episodic hemolytic anemia, Hy... ORPHA:90044
Mosaic Trisomy 16
Short forearm, Clinodactyly, Short femoral neck, Short thumb, Single transverse palmar crease, Hy... ORPHA:1708
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Hypocalciuria, Enuresis, Hyperaldosteronism, Renal sodium wasting, Sensorineural hearing impairme... OMIM:612780
Joubert Syndrome 7
Nephronophthisis, Hypoplasia of the brainstem, Brainstem dysplasia, Stage 5 chronic kidney diseas... OMIM:611560
Hypophosphatemic Bone Disease
Rickets, Osteomalacia OMIM:146350
Spinal Cord Injury
Paralytic ileus, Urinary retention, Abnormal autonomic nervous system physiology, Urinary bladder... ORPHA:90058
Meckel Syndrome 13
Flexion contracture, Polycystic kidney dysplasia, Molar tooth sign on MRI OMIM:617562
Primary Hyperoxaluria Type 1
Nephrocalcinosis, Enuresis, Failure to thrive, Recurrent urinary tract infections, Decreased glom... ORPHA:93598
Neuroendocrine Neoplasm Of Appendix
Increased serum serotonin, Adenocarcinoma of the colon, Hypotension, Elevated circulating hepatic... ORPHA:100079
Parkinson Disease 1, Autosomal Dominant
Dementia, Mental deterioration, Dysphagia, Urinary urgency OMIM:168601
Arachnoiditis
Tinnitus, Anhidrosis, Hearing impairment, Urinary bladder sphincter dysfunction ORPHA:137817
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Ankle flexion contracture, Carpal osteolysis, Interphalangeal joint contracture of fi... OMIM:259600
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Low-set ears, Clinodactyly, Genu valgum, Cryptorchidism, Protruding tongue, Sensorineural hearing... OMIM:309580
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Reduced erythrocyte adenosine triphosphate concentration, Stomatocytosis, Erythroid hyperplasia, ... OMIM:301083
Joubert Syndrome 10
Low-set ears, Conductive hearing impairment, Molar tooth sign on MRI OMIM:300804
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Molar tooth sign on MRI OMIM:617757
Joubert Syndrome 35
Renal fibrosis, Low-set ears, Multicystic kidney dysplasia, Hydronephrosis, Elongated superior ce... OMIM:618161
Spondylometaphyseal Dysplasia, Pagnamenta Type
Thin bony cortex OMIM:619638
Elliptocytosis 1
Jaundice, Hemolytic anemia, Splenomegaly, Elliptocytosis OMIM:611804
X-Linked Hypophosphatemia
Renal phosphate wasting, Hypocalciuria, Rickets, Limitation of joint mobility, Sensorineural hear... ORPHA:89936
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Stomatitis OMIM:618307
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI, Joint hypermobility OMIM:617121
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia, Abnormal granulocytopoietic cell morphology OMIM:612376
Joubert Syndrome 22
Renal hypoplasia, Temporal cortical atrophy, Molar tooth sign on MRI OMIM:615665
Congenital Lobar Emphysema
Emphysema ORPHA:1928
Hypophosphatemic Rickets And Hyperparathyroidism
Renal phosphate wasting, Hyperparathyroidism, Rickets, Elevated circulating parathyroid hormone l... OMIM:612089
Intellectual Disability-Alacrima-Achalasia Syndrome
Dysphagia, Enuresis, Achalasia ORPHA:289483
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Joubert Syndrome 6
Hepatic fibrosis, Nephronophthisis, Hypoplasia of the brainstem, Stage 5 chronic kidney disease, ... OMIM:610688
Faundes-Banka Syndrome
Low-set ears, Fetal ascites, Gastroesophageal reflux, Cupped ear, Conductive hearing impairment, ... OMIM:619376
Lamb-Shaffer Syndrome
Optic atrophy, Abnormal social behavior, Fused cervical vertebrae ORPHA:530983
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal hypoplasia, Unicoronal synostosis, Hamartoma of tongue, Cryptorchidism, Renal cyst, Ambiguo... OMIM:616300
Chand Syndrome
Short fifth metatarsal, Hydroureter, Atelectasis, Hypohidrosis, Curly hair, Bifid tongue, Cleft p... ORPHA:1401
Vater/Vacterl Association
Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal thumb, Hypoplasia of the ... OMIM:192350
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Osteopenia, Abnormal circulating calcium-phosphate regulating hormone concentration... ORPHA:2636
Joubert Syndrome 2
Low-set ears, Nephronophthisis, Optic disc coloboma, Hypoplasia of the brainstem, Brainstem dyspl... OMIM:608091
Spinocerebellar Ataxia Type 10
EEG with generalized epileptiform discharges, Urinary urgency ORPHA:98761
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Hearing impairment, Teratoma, Agenesis of corpus callosum, Abnormal... ORPHA:314621
Familial Osteodysplasia, Anderson Type
Abnormal earlobe morphology, Large earlobe, Abnormal cortical bone morphology, Increased suscepti... ORPHA:2769
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Progressive psychomotor deterioration, Decreased nerve conduction velocity, Short ... ORPHA:309263
Caffey Disease
Cortical irregularity, Periosteal thickening of long tubular bones, Joint hypermobility, Subperio... OMIM:114000
Joubert Syndrome 16
Renal cyst, Nephronophthisis, Molar tooth sign on MRI OMIM:614465
Joubert Syndrome 20
Renal cyst, Molar tooth sign on MRI OMIM:614970
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Hematuria,... ORPHA:95455
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Peripheral pulmonary artery stenosis, Congestive heart failure, Emphysema, ... OMIM:123700
Joubert Syndrome 39
Hypoplastic left heart, Joint contracture of the 5th finger, Postaxial polydactyly, Overweight, P... OMIM:619562
Osteogenesis Imperfecta, Type X
Osteopenia, Recurrent pneumonia, Nephrolithiasis, Decreased calvarial ossification, Generalized j... OMIM:613848
Joubert Syndrome 1
Nephropathy, Hepatic fibrosis, Low-set ears, Optic disc coloboma, Hypoplasia of the brainstem, Br... OMIM:213300
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein, Cerebral cortical atrophy, Memory impairment, Co... ORPHA:1020
Immunodeficiency 55
Lymphopenia, Absent natural killer cells, Neutropenia OMIM:617827
Ectodermal Dysplasia And Immunodeficiency 2
Splenomegaly, Hepatomegaly, Hypohidrosis, Anhidrosis, Aplasia of the sweat glands, Recurrent resp... OMIM:612132
Rh-Null, Amorph Type
Stomatocytosis, Hemolytic anemia, Reticulocytosis, Anisocytosis OMIM:617970
Weill-Marchesani Syndrome 2
Aortic valve stenosis, Congestive heart failure, Elbow flexion contracture, Joint stiffness, Mitr... OMIM:608328
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Hypomagnesemia 3, Renal
Chronic kidney disease, Hematuria, Macroscopic hematuria, Rickets, Renal magnesium wasting, Steri... OMIM:248250
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Osteogenesis Imperfecta, Type Xviii
Generalized osteoporosis, Recurrent fractures, Thin bony cortex, Joint hypermobility OMIM:617952
Medullary cystic kidney disease 2
Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Gout, Renal corticomedullar... OMIM:603860
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To
Hemoglobinuria, Hemolytic anemia, Reticulocytosis OMIM:266120
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Thin bony cortex ORPHA:85184
Spondyloocular Syndrome
Low-set ears, Osteopenia, Sensorineural hearing impairment, Femur fracture, Thin bony cortex, Uni... OMIM:605822
Cystic Fibrosis
Recurrent pneumonia, Biliary cirrhosis, Exocrine pancreatic insufficiency, Hepatosplenomegaly, Ci... OMIM:219700
Joubert Syndrome With Renal Defect
Nephropathy, Low-set, posteriorly rotated ears, Renal insufficiency, Agenesis of corpus callosum,... ORPHA:220497
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight, Eczematoid dermatitis ORPHA:64745
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Joint stiffness, Mitral regurgitation, Thin bony cortex, Patent ductus art... OMIM:277600
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Joint contracture of the hand, Rickets, Camptodactyly of finger, Osteomalacia, Low... OMIM:309000
Hydrolethalus Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Infantile Nephropathic Cystinosis
Aminoaciduria, Rickets, Glycosuria, Low-molecular-weight proteinuria, Abnormality of thyroid phys... ORPHA:411629
Pmm2-Cdg
Hypoalbuminemia, Osteopenia, Failure to thrive, Hypertrophic cardiomyopathy, Multiple joint contr... ORPHA:79318
Elliptocytosis 2
Hemolytic anemia, Reticulocytosis, Elliptocytosis OMIM:130600
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Decreased nerve conduction velocity, Cholecystitis, Emotional lability, Bilateral ... ORPHA:309256
Frank-Ter Haar Syndrome
Low-set ears, Osteopenia, Cortical irregularity, Protruding ear, Simple ear, Camptodactyly, Osteo... OMIM:249420
Joubert Syndrome With Ocular Defect
Low-set, posteriorly rotated ears, Agenesis of corpus callosum, Aganglionic megacolon, Molar toot... ORPHA:220493
Orofaciodigital Syndrome Type 6
Conductive hearing impairment, Bilateral cryptorchidism, Hamartoma of tongue, Low-set, posteriorl... ORPHA:2754
Meckel Syndrome, Type 4
Renal cyst, Bile duct proliferation, Molar tooth sign on MRI OMIM:611134
Amelogenesis Imperfecta, Type Ig
Nephrocalcinosis, Renal insufficiency, Impaired renal concentrating ability, Overgrowth, Polyuria... OMIM:204690
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Small pituitary gland, Low-set ears, Lateral ventricle dilatation, Posteriorly rotated ears, Mola... OMIM:619479
Joubert Syndrome With Oculorenal Defect
Nephropathy, Low-set, posteriorly rotated ears, Renal insufficiency, Aganglionic megacolon, Molar... ORPHA:2318
Senior-Loken Syndrome 3
Nephronophthisis, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Polyuria, Enuresis OMIM:606995
Joubert Syndrome 8
Prolonged neonatal jaundice, Hepatomegaly, Optic disc pallor, Molar tooth sign on MRI OMIM:612291
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Proteinuria, Stage 5 chronic kidney disease, Rickets OMIM:219900
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Hypoplasia of the brainstem, Hamartoma of tongue, Congenital diaphragmatic hernia, ... OMIM:616546
Childhood Absence Epilepsy
Urinary incontinence, Attention deficit hyperactivity disorder, Depression, Abnormal social behavior ORPHA:64280
Parkinson Disease 14, Autosomal Recessive
Mental deterioration, Frontotemporal dementia, Hypomimic face, Nocturia OMIM:612953
Orofaciodigital Syndrome Vi
Low-set ears, Conductive hearing impairment, Hamartoma of tongue, Agenesis of corpus callosum, Hy... OMIM:277170
Familial Hypocalciuric Hypercalcemia
Hypocalciuria, Hypomagnesiuria, Osteomalacia, Nephrolithiasis, Parathormone-independent increased... ORPHA:405
Enamel-Renal Syndrome
Nephropathy, Nephrocalcinosis, Hypocalciuria, Abnormal circulating calcium-phosphate regulating h... ORPHA:1031
Cystic Fibrosis
Absent vas deferens, Male infertility ORPHA:586
Orofaciodigital Syndrome Xvi
Hamartoma of tongue, Low-set ears, Molar tooth sign on MRI OMIM:617563
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Large earlobe, Irritability, Uraciluria, Abnormal aggressive, impulsive or viol... ORPHA:1675
Joubert Syndrome 38
Ectopic posterior pituitary, Small pituitary gland, Low-set ears, Decreased response to growth ho... OMIM:619476
Orofaciodigital Syndrome Xiv
Low-set ears, Optic disc coloboma, Hamartoma of tongue, Unilateral renal hypoplasia, Cryptorchidi... OMIM:615948
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Hearing impairment, Sclerosis of skull base, Optic nerve compression, Thin bony co... OMIM:619727
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Hypoalbuminemia OMIM:614748
Orofaciodigital Syndrome Type 14
Bilateral cryptorchidism, Hamartoma of tongue, Low-set, posteriorly rotated ears, Molar tooth sig... ORPHA:434179
Isolated Posterior Meningocele
Hydromyelia, Enuresis, Bowel incontinence ORPHA:268810
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Short ear, Cerebral cortical atrophy, Memory impairment, Abnormal social behavior ORPHA:314647
Faciocardiomelic Syndrome
Osteopenia, Thin bony cortex OMIM:612731
Joubert Syndrome 5
Nephronophthisis, Reduced renal corticomedullary differentiation, Stage 5 chronic kidney disease,... OMIM:610188

Histopathology

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

There is no histopathology data for Esr2

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 Esr2.

No publications found that use IMPC mice or data for Esr2.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Esr2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Esr2tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Esr2em1(IMPC)Marc Deletion Mice
Esr2tm40116(L1L2_gt2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Esr2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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