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Gene: Galnt3 MGI:894695

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
polypeptide N-acetylgalactosaminyltransferase 3
Synonyms:
ppGaNTase-T3

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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 Galnt3 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 Galnt3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900

The table below shows human diseases predicted to be associated to Galnt3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... OMIM:301059
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Spermatogenic Failure 11
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia OMIM:614822
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Spermatogenic Failure 51
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... OMIM:619177
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Spermatogenic Failure 64
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... OMIM:619696
Spermatogenic Failure 79
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia OMIM:620196
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Spermatogenic Failure 42
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... OMIM:618745
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Spermatogenic Failure, X-Linked, 5
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... OMIM:301099
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Male infertility, Abnormal sperm morphology, Immotile sperm OMIM:608653
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
Spermatogenic Failure 24
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... OMIM:617959
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Spermatogenic Failure 20
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella OMIM:617593
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Spermatogenic Failure 73
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619878
Spermatogenic Failure 59
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619645
Spermatogenic Failure 60
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619646
Spermatogenic Failure 74
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest OMIM:619937
Spermatogenic Failure 36
Male infertility, Abnormal sperm morphology OMIM:618420
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Spermatogenic Failure 6
Male infertility, Decreased acrosin in sperm head, Globozoospermia OMIM:102530
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Spermatogenic Failure 29
Male infertility, Non-obstructive azoospermia, Immotile sperm OMIM:618091
Spermatogenic Failure 9
Male infertility, Globozoospermia OMIM:613958
Spermatogenic Failure 67
Male infertility, Globozoospermia OMIM:619803
Spermatogenic Failure 68
Male infertility, Globozoospermia OMIM:619805
Spermatogenic Failure 69
Male infertility, Globozoospermia OMIM:619826
Spermatogenic Failure 66
Male infertility, Globozoospermia OMIM:619799
Spermatogenic Failure 22
Male infertility, Non-obstructive azoospermia, Cryptozoospermia OMIM:617706
Spermatogenic Failure 62
Male infertility, Non-obstructive azoospermia OMIM:619673
Spermatogenic Failure 61
Male infertility, Non-obstructive azoospermia OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Spermatogenic Failure 38
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... OMIM:618433
Spermatogenic Failure 8
Azoospermia, Cryptozoospermia, Oligozoospermia OMIM:613957
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Glutathione Peroxidase Deficiency
Heinz bodies, Neonatal hyperbilirubinemia, Compensated hemolytic anemia OMIM:614164
Spermatogenic Failure 13
Azoospermia OMIM:615841
Deleted in azoospermia
Azoospermia OMIM:400003
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Spermatogenic Failure 12
Azoospermia, Infertility, Abnormal male germ cell morphology OMIM:615413
Ciliary Dyskinesia, Primary, 50
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... OMIM:620356
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Isochromosomy Yq
Male infertility, Gonadal tissue inappropriate for external genitalia or chromosomal sex, Varicoc... ORPHA:98798
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Fava bean-induced hemolytic anemia, Hyperbilirubinemia OMIM:618660
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Pseudopseudohypoparathyroidism
Brachydactyly, Short stature, Short distal phalanx of the 3rd finger, Abnormality of the endocrin... ORPHA:79445
X-Linked Severe Congenital Neutropenia
Monocytopenia, Neutropenia ORPHA:86788
Testes, Rudimentary
Hypergonadotropic hypogonadism, Decreased testicular size, Hypoplastic male external genitalia OMIM:273150
Spermatogenic Failure 17
Male infertility OMIM:617214
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Osteopenia, Epiphyseal dysplasia, Metaphyseal dysplasia, Hypospadias, Decreased response to growt... OMIM:614732
Red Cell Phospholipid Defect With Hemolysis
Splenomegaly, Reticulocytosis, Hyperbilirubinemia OMIM:179700
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Crigler-Najjar Syndrome Type 2
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79235
Thrombocytopenia 2
Leukocytosis, Thrombocytopenia OMIM:188000
Persistent Mullerian Duct Syndrome, Types I And Ii
Male infertility, Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation OMIM:261550
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant
Macrothrombocytopenia OMIM:619840
Immune Thrombocytopenia
Thrombocytopenia OMIM:188030
Intrauterine Growth Restriction-Short Stature-Early Adult-Onset Diabetes Syndrome
Decreased testicular size ORPHA:436144
Bleeding Disorder, Platelet-Type, 9
Thrombocytopenia OMIM:614200
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... OMIM:211900
Neutropenia, Severe Congenital, X-Linked
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia OMIM:300299
Hyperbilirubinemia, Shunt, Primary
Reticulocytosis, Anemia of inadequate production, Splenomegaly, Hyperbilirubinemia, Erythroid hyp... OMIM:237800
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Vitamin D-Dependent Rickets, Type 3
Osteopenia, Bowing of the legs, Flared metaphysis, Growth delay, Elevated circulating parathyroid... OMIM:619073
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Pseudohypoparathyroidism, Type Ic
Short metacarpal, Short stature, Elevated circulating thyroid-stimulating hormone concentration, ... OMIM:612462
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Parathyroid agenesis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Congenit... ORPHA:2239
Hypoparathyroidism, Familial Isolated, 2
Decreased circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemia, Hypocalcemic se... OMIM:618883
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Pseudohypoparathyroidism, Type Ib
Short metacarpal, Pseudohypoparathyroidism, Hyperphosphatemia, Elevated circulating parathyroid h... OMIM:603233
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Patchy osteosclerosis, Decreased circulati... OMIM:241410
Pseudohypoparathyroidism, Type Ia
Short metacarpal, Short stature, Short toe, Osteoporosis, Pseudohypoparathyroidism, Short metatar... OMIM:103580
Spinocerebellar Ataxia 32
Azoospermia, Testicular atrophy, Infertility OMIM:613909
Malaria
Anemia, Thrombocytopenia, Hyperbilirubinemia, Elevated circulating C-reactive protein concentration ORPHA:673
Pseudohypoparathyroidism, Type Ii
Hypocalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Pseudohypoparath... OMIM:203330
Arterial Calcification, Generalized, Of Infancy, 1
Coronary artery calcification, Cardiomegaly, Ankylosis, Carotid artery calcification, Dilated car... OMIM:208000
Isolated Follicle Stimulating Hormone Deficiency
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... ORPHA:52901
Amegakaryocytic Thrombocytopenia, Congenital, 1
Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia OMIM:604498
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To
Hemolytic anemia, Reticulocytosis, Stomatocytosis, Reduced erythrocyte adenosine triphosphate con... OMIM:301083
Autosomal Recessive Spastic Paraplegia Type 46
Reduced sperm motility, Infertility, Abnormal sperm morphology, Decreased testicular size, Abnorm... ORPHA:320391
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Jaundice, Familial Obstructive, Of Infancy
Neonatal hyperbilirubinemia OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii
Conjugated hyperbilirubinemia OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal
Neonatal unconjugated hyperbilirubinemia OMIM:237900
Crigler-Najjar Syndrome, Type Ii
Unconjugated hyperbilirubinemia OMIM:606785
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Calciphylaxis
Stage 5 chronic kidney disease, Hyperphosphatemia, Secondary hyperparathyroidism, Ectopic ossific... ORPHA:280062
Immunodeficiency 21
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... OMIM:614172
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Osteopenia, Hypercalcemia, Hyperphosphatemia, Elevated circulating parathyroid hormone level, Par... OMIM:617994
Morbid Obesity And Spermatogenic Failure
Azoospermia, Type II diabetes mellitus, Infertility, Oligozoospermia OMIM:615703
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Decreased response to grow... ORPHA:94089
Hypogonadism, Male
Male hypogonadism, Micropenis, Hypospadias, Testicular atrophy OMIM:241100
Thrombocytopenia 7
Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red... OMIM:619130
Immunodeficiency 11A
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells OMIM:615206
Familial Tumoral Calcinosis
Calcification of muscles, Abnormality of the dentition, Abnormality of the gingiva, Gingivitis, H... ORPHA:53715
Autosomal Dominant Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Short stature, Thin long bone diaphyses, Post... ORPHA:93325
Ciliary Dyskinesia, Primary, 41
Infertility, Immotile sperm OMIM:618449
Osteomesopyknosis
Increased bone mineral density, Infertility OMIM:166450
Megaloblastic Anemia, Folate-Responsive
Folate-responsive megaloblastic anemia, Increased circulating ferritin concentration, Schistocyto... OMIM:601775
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614840
Thrombocytopenia 4
Abnormal platelet volume, Thrombocytopenia OMIM:612004
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... ORPHA:766
Familial Isolated Hyperparathyroidism
Osteopenia, Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Primary hyperparathyroidism, H... ORPHA:99879
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... OMIM:202700
Immunodeficiency 32B
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Hypoalbumin... OMIM:226990
Pseudohypoparathyroidism Type 2
Calcinosis, Pseudohypoparathyroidism, Hyperphosphatemia, Hypocalcemia, Ectopic calcification, Low... ORPHA:94090
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Short stature, Patchy osteosclerosis, Postnatal growth r... ORPHA:2323
Hypercholanemia, Familial, 2
Increased serum bile acid concentration, Unconjugated hyperbilirubinemia OMIM:619256
Acrodysostosis 1 With Or Without Hormone Resistance
Mild postnatal growth retardation, Neonatal epiphyseal stippling, Elevated circulating thyroid-st... OMIM:101800
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia ORPHA:231393
Ulna Metaphyseal Dysplasia Syndrome
Hypercalcemia, Coxa valga OMIM:191420
Elliptocytosis 2
Hemolytic anemia, Elliptocytosis, Neonatal hyperbilirubinemia, Reticulocytosis OMIM:130600
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Primary Hyperoxaluria Type 1
Calcinosis, Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Abnormality of the dentit... ORPHA:93598
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation OMIM:614023
Hyperbilirubinemia, Rotor Type
Conjugated hyperbilirubinemia OMIM:237450
Hypoparathyroidism, Familial Isolated, 1
Hypoparathyroidism, Cerebral calcification, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hy... OMIM:146200
Hypocalcemia, Autosomal Dominant 1
Short stature, Decreased circulating parathyroid hormone level, Hypokalemia, Hyperphosphatemia, I... OMIM:601198
Calcification Of Joints And Arteries
Coronary artery calcification, Iliac arterial calcification, Femoral arterial calcification, Tibi... OMIM:211800
Genetic Recurrent Myoglobinuria
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Myositis, Renal insuffici... ORPHA:99845
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Spherocytosis, Type 4
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:612653
Hypocalcemia, Autosomal Dominant 2
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia OMIM:615361
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia OMIM:237500
Dehydrated Hereditary Stomatocytosis 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog... OMIM:616689
Generalized Arterial Calcification Of Infancy
Cerebral calcification, Medial calcification of large arteries, Adrenal calcification, Cardiomega... ORPHA:51608
Crigler-Najjar Syndrome, Type I
Unconjugated hyperbilirubinemia OMIM:218800
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Calcinosis, Increased bone mineral density, Cerebral calcification, Hy... ORPHA:79444
Cholestasis, Progressive Familial Intrahepatic, 12
Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia, Splen... OMIM:620010
Pulmonary Alveolar Microlithiasis
Calcium nephrolithiasis, Mitral valve calcification, Abnormal circulating calcium concentration, ... ORPHA:60025
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Cholestasis, Progressive Familial Intrahepatic, 11
Abnormal circulating bilirubin concentration, Increased serum bile acid concentration OMIM:619874
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Postnatal growth retardation, Small hand, Dec... ORPHA:93324
Dent Disease 2
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... OMIM:300555
Adult Idiopathic Neutropenia
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia ORPHA:2688
Autoimmune Hypoparathyroidism
Calcium nephrolithiasis, Increased bone mineral density, Autoimmune hypoparathyroidism, Hyperphos... ORPHA:36913
Paget Disease Of Bone 6
Recurrent fractures, Osteoarthritis, Nephrocalcinosis, Elevated circulating alkaline phosphatase ... OMIM:616833
Fibrous Dysplasia Of Bone
Abnormal tibia morphology, Abnormal femur morphology, Coxa vara, Thyroid carcinoma, Patchy reduct... ORPHA:249
Spherocytosis, Type 2
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:616649
Hyperparathyroidism 4
Osteopenia, Primary hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:617343
Beemer Lethal Malformation Syndrome
Thrombocytopenia OMIM:209970
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Male infertility, Short sperm flagella, Coiled sperm flagella OMIM:620197
Immunodeficiency 97 With Autoinflammation
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... OMIM:619802
Hypophosphatemic Rickets, X-Linked Dominant
Shortening of the talar neck, Short stature, Osteomalacia, Bowing of the legs, Abnormal circulati... OMIM:307800
Osteochondrosis Of The Metatarsal Bone
Flattened metatarsal heads, Abnormality of the fifth metatarsal bone, Sclerosis of foot bone, Abn... ORPHA:564003
Eosinophilia, Familial
Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia OMIM:131400
Bleeding Disorder, Platelet-Type, 16
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele... OMIM:187800
Kennedy Disease
Type II diabetes mellitus, Testicular atrophy, Decreased fertility, Erectile dysfunction ORPHA:481
Blue Diaper Syndrome
Decreased circulating T4 concentration, Hyperphosphatemia, Elevated circulating thyroid-stimulati... ORPHA:94086
Anemia, Sideroblastic, 5
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia OMIM:619523
Pseudo-Von Willebrand Disease
Intermittent thrombocytopenia OMIM:177820
Bleeding Disorder, Platelet-Type, 15
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume OMIM:615193
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density, Premature ovarian insufficiency ORPHA:75325
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Osteopenia, Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Hypokalemia, Aminoacidu... OMIM:617913
Arterial Calcification, Generalized, Of Infancy, 2
Coronary artery calcification, Cardiomegaly, Nephrocalcinosis, Hypophosphatemic rickets, Arterial... OMIM:614473
Pseudohypoparathyroidism Type 1A
Cerebral calcification, Decreased response to growth hormone stimulation test, Reduced circulatin... ORPHA:79443
Adamantinoma
Pathologic fracture, Hypercalcemia ORPHA:55881
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Short humerus, Increased bone mineral density, Bowing of the long bones, Short statur... OMIM:239000
Intellectual Developmental Disorder, X-Linked 14
Macroorchidism OMIM:300062
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome
Amegakaryocytic thrombocytopenia ORPHA:71289
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
Hypophosphatasia, Childhood
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Craniosynostosis, Premature loss of ... OMIM:241510
Isolated Osteopoikilosis
Syndactyly, Abnormally ossified vertebrae, Increased bone mineral density, Abnormal pelvis bone m... ORPHA:166119
Hypophosphatemic Rickets, X-Linked Recessive
Low-molecular-weight proteinuria, Renal insufficiency, Recurrent fractures, Osteomalacia, Delayed... OMIM:300554
Osteosclerotic Metaphyseal Dysplasia
Dense metaphyseal bands, Metaphyseal dysplasia, Increased bone mineral density, Clavicular sclerosis OMIM:615198
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1
Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia OMIM:252270
Dent Disease 1
Renal insufficiency, Hyperphosphaturia, Recurrent fractures, Osteomalacia, Delayed epiphyseal oss... OMIM:300009
Metaphyseal Chondrodysplasia, Jansen Type
Osteopenia, Hip contracture, Hypoparathyroidism, Severe short stature, Bowing of the long bones, ... OMIM:156400
Hypophosphatasia
Bowing of the long bones, Short stature, Hypercalcemia, Recurrent fractures, Craniosynostosis, Ab... ORPHA:436
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Short stature, Hypercalcemia, Parathyroid hyperplasia, Rickets, Elevated cir... OMIM:612089
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Glycos... OMIM:308990
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... ORPHA:85188
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154275
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia OMIM:124900
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Spherocytosis, Type 1
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Hyperbilirubinemia OMIM:182900
Kenny-Caffey Syndrome, Type 2
Hypoparathyroidism, Transient hypophosphatemia, Increased bone mineral density, Severe short stat... OMIM:127000
Platelet Glycoprotein Iv Deficiency
Giant platelets, Thrombocytopenia OMIM:608404
Rh-Null, Regulator Type
Hemolytic anemia, Stomatocytosis, Unconjugated hyperbilirubinemia OMIM:268150
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Thrombocytopenia OMIM:166990
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Elevated circulating creatine kinase concentration, Hyperkalemia... OMIM:154276
Erythroleukemia, Familial, Susceptibility To
Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia OMIM:133180
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Hyperphosphaturia, Elevated alkaline phosphatase of bone origin, Osteomalacia, Increased circulat... ORPHA:157215
Hypophosphatemic Bone Disease
Short stature, Osteomalacia, Bowing of the legs, Rickets, Hypophosphatemia OMIM:146350
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies
Osteopenia, Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogeni... OMIM:611555
Hypophosphatemic Rickets, Autosomal Recessive, 1
Increased bone mineral density, Craniosynostosis, Rickets, Hypophosphatemia, Hypophosphatemic ric... OMIM:241520
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia ORPHA:494444
Dent Disease
Elevated circulating creatine kinase concentration, Delayed epiphyseal ossification, Nephrocalcin... ORPHA:1652
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Azoospermia, Abnormal prolacti... OMIM:615842
Hypercalcemia, Infantile, 2
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... OMIM:616963
Cholestasis, Progressive Familial Intrahepatic, 10
Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra... OMIM:619868
Paget Disease Of Bone 2, Early-Onset
Bowing of the long bones, Short femur, Hypercalcemia, Fractures of the long bones, Osteolysis, In... OMIM:602080
X-Linked Intellectual Disability-Macrocephaly-Macroorchidism Syndrome
Macroorchidism ORPHA:85320
Hyperparathyroidism, Neonatal Severe
Calcinosis, Hyperphosphaturia, Hypercalcemia, Recurrent fractures, Polyuria, Primary hyperparathy... OMIM:239200
Dk Phocomelia Syndrome
Thrombocytopenia OMIM:223340
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant
Impaired platelet aggregation, Macrothrombocytopenia OMIM:613112
Hypogonadotropic Hypogonadism 7 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Infertility, Micropenis, Decre... OMIM:146110
Fanconi-Bickel Syndrome
Osteopenia, Hyperphosphaturia, Hypertriglyceridemia, Elevated circulating aspartate aminotransfer... ORPHA:2088
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... OMIM:600081
Hypophosphatasia, Infantile
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Craniosynostosis, Abn... OMIM:241500
Aortic Valve Disease 2
Bicuspid aortic valve, Calcification of the aorta, Aortic tortuosity, Coarctation of aorta, Ascen... OMIM:614823
Renal Tubular Acidosis, Distal, 1
Impaired urinary acidification, Osteomalacia, Distal renal tubular acidosis, Elevated circulating... OMIM:179800
Adrenal Hypoplasia, Congenital
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... OMIM:300200
Rotor Syndrome
Conjugated hyperbilirubinemia, Hyperbilirubinemia ORPHA:3111
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Osteopetrosis, Autosomal Recessive 9
Increased bone mineral density, Hyperparathyroidism, Cortical sclerosis, Postnatal growth retarda... OMIM:620366
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency
Normocytic anemia, Reticulocytosis, Splenomegaly, Normochromic anemia, Hyperbilirubinemia, Nonsph... OMIM:235700
Crigler-Najjar Syndrome Type 1
Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia ORPHA:79234
Intellectual Developmental Disorder, X-Linked 2
Macroorchidism OMIM:300428
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Testicular atrophy, Decreased fertility OMIM:313200
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Finger syndactyly, 2-3 finger syndacty... ORPHA:3152
Hypophosphatemic Rickets, Autosomal Dominant
Osteomalacia, Abnormality of the dentition, Rickets, Renal phosphate wasting, Elevated circulatin... OMIM:193100
Hemangioma-Thrombocytopenia Syndrome
Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia OMIM:141000
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:264700
Ciliary Dyskinesia, Primary, 46
Reduced sperm motility OMIM:619436
Precocious Puberty, Male-Limited
Decreased testicular size, Precocious puberty in males OMIM:176410
Short Stature, Dauber-Argente Type
Osteopenia, Long toe, Short stature, Arachnodactyly, Decreased fibular diameter, Postnatal growth... OMIM:619489
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Tibiofibular diastasis... ORPHA:566943
Mandibuloacral Dysplasia With Type A Lipodystrophy
Osteopenia, Calcinosis, Dental crowding, Joint stiffness, Hyperlipidemia, Flexion contracture, El... OMIM:248370
Bleeding Disorder, Platelet-Type, 24
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... OMIM:619271
Thymic Neuroendocrine Tumor
Osteopenia, Pancreatic islet cell adenoma, Pituitary null cell adenoma, Hypercalcemia, Neoplasm o... ORPHA:97289
Platelet Signal Processing Defect
Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb... OMIM:173590
Rothmund-Thomson Syndrome
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Abnormal ... ORPHA:2909
Alkaptonuria
Mitral valve calcification, Abnormal heart valve morphology, Coronary artery calcification, Joint... ORPHA:56
Hereditary Arterial And Articular Multiple Calcification Syndrome
Coronary artery calcification, Arterial tortuosity, Abnormal vascular morphology, Decreased serum... ORPHA:289601
Illum Syndrome
Calcinosis, Whistling appearance, Pierre-Robin sequence, Arthrogryposis multiplex congenita OMIM:208155
Bleeding Disorder, Platelet-Type, 19
Thrombocytopenia, Macrothrombocytopenia, Anemia OMIM:616176
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Bulging epiphyses, Recurrent fractures, Decreased circulating parathyroid hormone level, Bowing o... OMIM:241530
Blue Diaper Syndrome
Abnormal circulating tryptophan concentration, Hypercalcemia OMIM:211000
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Short stature, Recurrent fractures, Osteomalacia, Bone cyst, Genu varum, Ost... ORPHA:93160
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote... ORPHA:158057
Hypophosphatemic Rickets, Autosomal Recessive, 2
Hyperphosphaturia, Carious teeth, Hypoplasia of teeth, Elevated circulating alkaline phosphatase ... OMIM:613312
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Elevated hepatic transaminase, Hyperphosphaturia, Hypouricemia, Proteinuria, Rickets, Nephrocalci... OMIM:616026
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Diabetes mellitus OMIM:602475
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... OMIM:619041
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Premature ovarian ins... ORPHA:221008
Edinburgh Malformation Syndrome
Neonatal hyperbilirubinemia OMIM:129850
Hypocalcemic Vitamin D-Dependent Rickets
Short stature, Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, ... ORPHA:289157
12q14 microdeletion syndrome
Osteopoikilosis, Proportionate short stature DECIPHER:76
Ciliary Dyskinesia, Primary, 34
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... OMIM:617091
Diastrophic Dysplasia
Increased bone mineral density, Bowing of the long bones, Camptodactyly of finger, Micromelia, Jo... ORPHA:628
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Pancytopenia, Impaired neutrophil chemotaxis, Neutropenia, Hepatosplenomegaly, Leukopenia, T lymp... OMIM:618986
Bone Marrow Failure Syndrome 2
Leukopenia, Thrombocytopenia, Anemia OMIM:615715
Rothmund-Thomson Syndrome Type 2
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Abnormal ... ORPHA:221016
Hyperparathyroidism 1
Primary hyperparathyroidism, Hypercalcemia OMIM:145000
Nephropathy-Deafness-Hyperparathyroidism Syndrome
Hyperparathyroidism, Bone cyst, Hypercalcemia ORPHA:2668
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Oligozoospermia OMIM:314300
Roch-Leri Mesosomatous Lipomatosis
Thrombocytopenia ORPHA:529
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect, Elevated circulating aspartate aminotransferase concentration, Jaundic... OMIM:614876
Mandibuloacral Dysplasia With Type B Lipodystrophy
Calcinosis, Abnormality of the dentition, Hyperlipidemia, Osteolysis, Osteolytic defects of the d... ORPHA:90154
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Joint stiffness OMIM:166700
Gilbert Syndrome
Unconjugated hyperbilirubinemia OMIM:143500
Primary Hyperoxaluria
Elevated hepatic transaminase, Hyperoxaluria, Recurrent fractures, Aciduria, Abnormality of the d... ORPHA:416
Anemia, Sideroblastic, 3, Pyridoxine-Refractory
Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Spleno... OMIM:616860
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Rickets, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:602722
Microphthalmia, Isolated 4
Absent testis OMIM:613094
Preeclampsia/Eclampsia 1
Thrombocytopenia OMIM:189800
Sickle Cell Anemia
Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, El... ORPHA:232
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Niemann-Pick Disease, Type B
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt... OMIM:607616
Vitamin D-Dependent Rickets, Type 2A
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... OMIM:277440
Intermediate Osteopetrosis
Osteomyelitis, Abnormal dental morphology, Recurrent fractures, Cortical sclerosis, Abnormality o... ORPHA:210110
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Proteinuria, Conj... OMIM:613404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Osteopenia, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtrum, Patent d... OMIM:615398
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Osteopenia, Tented upper lip vermilion, High, narrow palate, Renal cyst, Downturned corners of mo... ORPHA:369837
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Ras-Associated Autoimmune Leukoproliferative Disorder
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Lymphocyt... OMIM:614470
Malignant Hyperthermia, Susceptibility To, 1
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration OMIM:145600
Arteriosclerosis, Severe Juvenile
Central retinal vessel vascular tortuosity, Chronic kidney disease, Calcification of the aorta, A... OMIM:208060
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Joint laxity, Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Wide mouth, Ne... ORPHA:500533
Endosteal Hyperostosis, Worth Type
Craniofacial hyperostosis, Facial palsy, Generalized osteosclerosis, Torus palatinus, Clavicular ... ORPHA:2790
Acute Myelomonocytic Leukemia
Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia ORPHA:517
Sea-Blue Histiocyte Disease
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis OMIM:269600
Parathyroid Carcinoma
Hyperparathyroidism, Parathyroid carcinoma, Hypercalcemia OMIM:608266
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Hypercalcemia,... ORPHA:99880
Renal Tubular Acidosis Iii
Osteomalacia, Rickets, Nephrolithiasis, Bicarbonate-wasting renal tubular acidosis, Nephrocalcino... OMIM:267200
Albers-Schönberg Osteopetrosis
Osteomyelitis, Short stature, Recurrent fractures, Mandibular osteomyelitis, Generalized osteoscl... ORPHA:53
Lipodystrophy, Congenital Generalized, Type 3
Hypertriglyceridemia, Short stature, Diabetes mellitus, Primary amenorrhea, Hypocalcemia, Hyperch... OMIM:612526
Giant platelet syndrome with thrombocytopenia
Giant platelets, Thrombocytopenia OMIM:137560
Bile Acid Synthesis Defect, Congenital, 5
Splenomegaly, Iron deficiency anemia, Increased total iron binding capacity, Increased serum bile... OMIM:616278
Oculoskeletodental Syndrome
Short stature, Hypercalcemia, Cryptorchidism, Elbow flexion contracture, Hypocalcemia, Short femo... OMIM:618440
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Elevated hepatic transaminase, Giant cell hepatitis, Ventricular septal defect, Conjugated hyperb... OMIM:208085
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy
Joint laxity, Facial hypotonia, Thick lower lip vermilion, Wide mouth, Nephrocalcinosis, Atrial s... OMIM:611087
Congenital Amegakaryocytic Thrombocytopenia
Thrombocytopenia, Abnormal hemoglobin, Anemia ORPHA:3319
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology ORPHA:1653
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Peptic ulcer, Testicular neoplasm, Hypercalcemia,... ORPHA:143
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Short stature, Recurrent fractures, Multiple prenatal fractures, Abnorm... OMIM:619795
Hyperostosis Corticalis Generalisata
Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis, Diaphyseal t... ORPHA:3416
Fanconi Anemia, Complementation Group G
Thrombocytopenia, Leukemia, Anemia, Neutropenia OMIM:614082
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia OMIM:615285
Oculoskeletodental Syndrome
Metaphyseal dysplasia, Short stature, Hypercalcemia, Short 5th finger, Hypocalcemia, Hypoplasia o... ORPHA:557003
Hypercalcemia, Infantile, 1
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... OMIM:143880
Nephrolithiasis, X-Linked Recessive, With Renal Failure
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... OMIM:310468
Dehydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Anemia of inadequate production, Increased ... ORPHA:3202
Familial Expansile Osteolysis
Osteolysis, Elevated circulating alkaline phosphatase concentration, Hydroxyprolinuria, Pathologi... OMIM:174810
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Anemia, Congenital Dyserythropoietic, Type Iv
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... OMIM:613673
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Increased bone mineral density, Short stature, Abnormal limb bone morphology, Limb undergrowth, A... ORPHA:2204
Kenny-Caffey Syndrome, Type 1
Short palm, Proportionate short stature, Small hand, Decreased skull ossification, Birth length l... OMIM:244460
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Osteopenia, Hip contracture, Necrotizing enterocolitis, Elevated circulating creatine kinase conc... OMIM:616809
Diffuse Neonatal Hemangiomatosis
Abnormal vagina morphology, Hypercalcemia ORPHA:2123
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Hyponatremia, Polyuria, Dilated cardiomyopathy, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypo... OMIM:620152
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hypertriglyceridemia, Increased circulating ferritin concentration, Splenomegaly, Anemia, Hemopha... OMIM:603552
Mental retardation, x-linked, syndromic, Turner type
Macroorchidism OMIM:300706
Infantile Myofibromatosis
Neoplasm of the pancreas, Hypercalcemia, Bone cyst, Limitation of joint mobility, Osteolysis, Abn... ORPHA:2591
Fanconi Renotubular Syndrome 1
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Osteoma... OMIM:134600
Spastic Paraplegia-Paget Disease Of Bone Syndrome
Elevated circulating alkaline phosphatase concentration, Increased spinal bone density, Recurrent... ORPHA:329475
Tumoral Calcinosis, Normophosphatemic, Familial
Calcinosis, Gingivitis OMIM:610455
Craniodiaphyseal Dysplasia, Autosomal Dominant
Craniofacial hyperostosis, Short stature, Cortical sclerosis, Craniofacial osteosclerosis, Diaphy... OMIM:122860
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Isothenuria, Rickets, Nephrocalcinosis, Hypokalemia, Distal renal tubular acidosis OMIM:611590
Alpha-Thalassemia-Myelodysplastic Syndrome
Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia ORPHA:231401
Intellectual Developmental Disorder, X-Linked 92
Decreased testicular size OMIM:300851
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Nephrocalcinosis, Cryptorchidism OMIM:615633
Granulomatous Slack Skin
Nephrocalcinosis, Acute kidney injury, Hypercalcemia ORPHA:33111
Melorheostosis
Skeletal muscle atrophy, Increased bone mineral density, Peripheral arteriovenous fistula, Joint ... ORPHA:2485
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Thrombocytopenia OMIM:614493
Aicardi-Goutières Syndrome
Elevated hepatic transaminase, Myositis, Multiple joint contractures, Cerebral calcification, Car... ORPHA:51
Autosomal Dominant Hypophosphatemic Rickets
Osteomalacia, Bowing of the legs, Rickets, Growth delay, Hypocalcemia, Hypophosphatemia ORPHA:89937
Apparent Mineralocorticoid Excess
Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Hypokalemia, Renal so... ORPHA:320
Familial Hypocalciuric Hypercalcemia
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Peptic ulcer, Parathormone-... ORPHA:405
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
46,Xy Difference Of Sex Development Due To 5-Alpha-Reductase 2 Deficiency
Bifid scrotum, Hypoplasia of penis, Small scrotum, Abnormality of the endocrine system, Cryptorch... ORPHA:753
Osteosclerosis With Ichthyosis And Fractures
Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... OMIM:166740
Malignant Hyperthermia Of Anesthesia
Acute hepatic failure, Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Myoglobinuria, Abno... ORPHA:423
Melorheostosis With Osteopoikilosis
Complete duplication of the distal phalanges of the hand, Osteopoikilosis, Abnormal cortical bone... ORPHA:1879
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Severe short stature, Upper-limb metaphyseal irregularity, Lower-limb metaphyseal irregularity, P... OMIM:618728
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Van Buchem Disease
Elevated circulating alkaline phosphatase concentration, Cranial hyperostosis, Increased bone min... OMIM:239100
Chronic Myeloid Leukemia
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... ORPHA:521
Ciliary Dyskinesia, Primary, 18
Male infertility, Absent outer dynein arms, Absent inner dynein arms, Immotile sperm OMIM:614874
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Bowing of the long bones, Sandal gap, Proximal placement of thumb... ORPHA:90650
Homozygous Familial Hypercholesterolemia
Premature arteriosclerosis, Precocious atherosclerosis, Abnormal internal carotid artery morpholo... ORPHA:391665
Congenital Dyserythropoietic Anemia Type Iii
Anisocytosis, Abnormal erythrocyte morphology, Increased serum iron, Increased mean corpuscular v... ORPHA:98870
Basal Ganglia Calcification, Idiopathic, Childhood-Onset
Basal ganglia calcification, Calcification of the small brain vessels, Limb joint contracture, De... OMIM:114100
Refractory Anemia
Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm... ORPHA:98826
Pierre Robin Syndrome
Glossoptosis, Pierre-Robin sequence, Cor pulmonale, Cleft palate OMIM:261800
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Elevated circulating creatine kinase concentration, Centrally nucl... OMIM:615424
Flynn-Aird Syndrome
Increased bone mineral density, Joint stiffness, Carious teeth, Osteoporosis, Increased bone dens... OMIM:136300
Fanconi Anemia, Complementation Group V
Anemia, Thrombocytopenia, Elevated circulating alpha-fetoprotein concentration, Neutropenia OMIM:617243
Thrombocytopenia 5
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... OMIM:616216
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Elevated circulating creatine kinase concentration, Elevated ... ORPHA:93672
Addison Disease
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Increased circul... ORPHA:85138
Mccune-Albright Syndrome
Aneurysmal bone cyst, Hyperthyroidism, Osteomalacia, Precocious puberty, Hepatitis, Renal phospha... ORPHA:562
Camurati-Engelmann Disease, Type 2
Osteopenia, Hip contracture, Skeletal muscle atrophy, Mitral valve prolapse, Knee flexion contrac... OMIM:606631
Spondylometaphyseal Dysplasia, Axial
Reduced sperm motility OMIM:602271
Congenital Disorder Of Glycosylation, Type Iip
Elevated hepatic transaminase, Decreased circulating ceruloplasmin concentration, Increased LDL c... OMIM:616829
Ciliary Dyskinesia, Primary, 12
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... OMIM:612650
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Unconjugated hyperbilirubinemia, Poiki... OMIM:300908
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia OMIM:616871
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Oral ulcer, Gingivitis, Nephrocalcinosis, Inflammation of the large intestine, Period... ORPHA:79259
Anemia, Congenital Dyserythropoietic, Type Ia
Hemolytic anemia, Reticulocytosis, Anisocytosis, Anemia of inadequate production, Splenomegaly, S... OMIM:224120
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss
Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia... OMIM:155100
Harderoporphyria
Hemolytic anemia, Reticulocytosis, Splenomegaly, Increased circulating ferritin concentration, Ne... OMIM:618892
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Elevated circulating creatine kinase con... OMIM:619743
Ciliary Dyskinesia, Primary, 11
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia OMIM:612649
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Hyponatremia, Decreased circulating cortisol level, Premature ovarian insuffi... ORPHA:199299
Neuroleptic Malignant Syndrome
Elevated hepatic transaminase, Hyponatremia, Proteinuria, Elevated circulating creatine kinase co... ORPHA:94093
Intellectual Disability-Strabismus Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Congenital diaphragmatic hern... ORPHA:363528
Bleeding Disorder, Platelet-Type, 20
Thrombocytopenia OMIM:616913
Von Willebrand Disease, Type 2
Thrombocytopenia OMIM:613554
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria
Hyperparathyroidism, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Renal tubular acidosis OMIM:239199
Gaucher Disease, Type Iiic
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Calcification of the aorta,... OMIM:231005
Autosomal Recessive Myogenic Arthrogryposis Multiplex Congenita
Postnatal growth retardation, Cryptorchidism, Abnormal circulating creatine kinase concentration,... ORPHA:319332
Trichodentoosseous Syndrome
Microdontia, Increased bone mineral density, Taurodontia, Widely spaced teeth OMIM:190320
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Myopathy, Tubular Aggregate, 2
Hypocalcemia, Elevated circulating creatine kinase concentration, Ankle flexion contracture OMIM:615883
Hypocalciuric Hypercalcemia, Familial, Type Iii
Renal insufficiency, Hypercalcemia, Osteomalacia, Peptic ulcer, Parathormone-independent increase... OMIM:600740
Ciliary Dyskinesia, Primary, 45
Male infertility, Absent inner and outer dynein arms OMIM:618801
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Proteinuria, Septate vagina, Basal ganglia calcification, Chronic kidney dise... OMIM:146255
Thrombocytopenia With Beta-Thalassemia, X-Linked
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... OMIM:314050
Hypophosphatasia, Adult
Premature loss of permanent teeth, Osteomalacia, Premature loss of primary teeth, Recurrent fract... OMIM:146300
Overhydrated Hereditary Stomatocytosis
Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum... OMIM:185000
Osteomesopyknosis
Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2777
Hereditary Elliptocytosis
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Stomatocytosis,... ORPHA:288
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor
Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... OMIM:600785
Metaphyseal Chondrodysplasia, Schmid Type
Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral bowing, Metaphyseal cuppin... OMIM:156500
Cysticercosis
Calcification of muscles, Cerebral calcification, Stiff neck, Abnormal skeletal muscle morphology... ORPHA:1560
Reynolds Syndrome
Elevated hepatic transaminase, Calcinosis, Calcinosis cutis, Jaundice, Lip telangiectasia, Elevat... OMIM:613471
Glycogen Storage Disease Due To Acid Maltase Deficiency
Elevated circulating creatine kinase concentration, Cardiomegaly, Abnormal internal carotid arter... ORPHA:365
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Increased bone mineral density, Facial palsy, Craniosynostosis ORPHA:178377
Citrullinemia, Type Ii, Neonatal-Onset
Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper... OMIM:605814
Axial Osteomalacia
Increased bone mineral density, Osteomalacia, Elevated circulating creatine kinase concentration,... OMIM:109130
Gray Platelet Syndrome
Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia ORPHA:721
Fanconi-Bickel Syndrome
Elevated gamma-glutamyltransferase level, Ketonuria, Hypouricemia, Elevated circulating aspartate... OMIM:227810
Ciliary Dyskinesia, Primary, 14
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... OMIM:613807
Ciliary Dyskinesia, Primary, 26
Absent outer dynein arms, Infertility, Reduced sperm motility OMIM:615500
Progressive Familial Intrahepatic Cholestasis
Short stature, Hypocalcemia, Reduced bone mineral density ORPHA:172
Autosomal Dominant Hypocalcemia
Hypercalciuria, Reduced bone mineral density, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, ... ORPHA:428
Bartter Syndrome, Type 1, Antenatal
Osteopenia, Hyperchloriduria, Hyperparathyroidism, Increased serum prostaglandin E2, Hypercalcemi... OMIM:601678
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Hypoammonemia, Deep philtrum, Gingivitis, Oligosacchariduri... ORPHA:534
Pyruvate Kinase Deficiency Of Red Cells
Reticulocytosis, Decreased hemoglobin concentration, Reduced red cell pyruvate kinase level, Sple... OMIM:266200
Hyperparathyroidism 2 With Jaw Tumors
Hyperparathyroidism, Pancreatic adenocarcinoma, Hypercalcemia, Hurthle cell thyroid adenoma, Para... OMIM:145001
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Scapular winging, Pelvic girdle muscle atrophy, Elevated alkaline phosphatase of bone origin, Ele... OMIM:167320
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of pubertal developmen... OMIM:614837
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
X-Linked Hypophosphatemia
Bowing of the legs, Generalized osteosclerosis, Trapezoidal distal femoral condyles, Enthesitis, ... ORPHA:89936
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Fanconi Renotubular Syndrome 2
Osteopenia, Renal insufficiency, Proteinuria, Recurrent fractures, Osteomalacia, Rickets, Hyperca... OMIM:613388
Hereditary Amyloidosis With Primary Renal Involvement
Decreased HDL cholesterol concentration, Intestinal perforation, Tubulointerstitial nephritis, Ne... ORPHA:85450
2P21 Microdeletion Syndrome
Growth delay, Hypogonadism, Hypocalcemia ORPHA:163693
Cernunnos-Xlf Deficiency
Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia ORPHA:169079
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... ORPHA:564178
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Short stature OMIM:615925
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Cystinosis
Renal insufficiency, Proteinuria, Portal hypertension, Malabsorption, Rickets, Renal tubular dysf... ORPHA:213
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Alkaptonuria
Vertebral fusion, Mitral valve calcification, Coronary artery calcification, Aortic valve calcifi... OMIM:203500
Variant Abeta2M Amyloidosis
Multiple bony cystic lesions, Intestinal perforation, Abnormal vascular morphology, Chronic kidne... ORPHA:314652
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Hypercalciuria, Increased susceptib... OMIM:612286
Pyknoachondrogenesis
Increased bone mineral density OMIM:265880
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2
Osteopenia, Hyperphosphaturia, Osteoporosis, Nephrolithiasis, Increased susceptibility to fractur... OMIM:612287
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... OMIM:613101
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Thrombocytopenia, Anemia, And Myelofibrosis
Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia OMIM:617441
Polycythemia Vera
Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato... OMIM:263300
Cystinosis, Nephropathic
Skeletal muscle atrophy, Cerebral calcification, Aminoaciduria, Renal Fanconi syndrome, Low-molec... OMIM:219800
Werner Syndrome
Skeletal muscle atrophy, Increased bone mineral density, Renal neoplasm, Abnormal cerebral vascul... ORPHA:902
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Elevated circulating creatine kinase concentration, Centrally ... OMIM:615422
Hyperoxaluria, Primary, Type I
Hyperoxaluria, Increased bone mineral density, Renal insufficiency, Calcium oxalate nephrolithias... OMIM:259900
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia ORPHA:1980
Polycystic Liver Disease 1 With Or Without Kidney Cysts
Increased total bilirubin OMIM:174050
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Fetal Parvovirus Syndrome
Thrombocytopenia, Anemia ORPHA:295
Rabson-Mendenhall Syndrome
Enlarged ovaries, Ventricular septal defect, Dental crowding, Abnormality of the dentition, Preco... ORPHA:769
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Decreased hemoglobin concentration, Hemolytic anemia, Hyperbilirubinemia, Reticulocytosis ORPHA:713
Ciliary Dyskinesia With Defective Radial Spokes
Absent respiratory ciliary axoneme radial spokes, Immotile sperm OMIM:242670
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... OMIM:618314
Nephrotic Syndrome, Type 7
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:615008
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Osteoly... ORPHA:52430
46,Xy Difference Of Sex Development Due To 17-Beta-Hydroxysteroid Dehydrogenase 3 Deficiency
Hypogonadotropic hypogonadism, Cryptorchidism, Male pseudohermaphroditism, Infertility, Ambiguous... ORPHA:752
Osteopetrosis, Autosomal Recessive 1
Increased bone mineral density, Osteomyelitis, Facial palsy, Craniosynostosis, Carious teeth, Ele... OMIM:259700
Immunodeficiency 14B, Autosomal Recessive
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis OMIM:619281
Transcobalamin Deficiency
Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia ORPHA:859
Scleroderma, Familial Progressive
Calcinosis OMIM:181750
Ataxia-Pancytopenia Syndrome
Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto... OMIM:159550
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Congenital Bile Acid Synthesis Defect Type 2
Elevated hepatic transaminase, Giant cell hepatitis, Abnormal circulating enzyme concentration or... ORPHA:79303
Partington Syndrome
Macroorchidism ORPHA:94083
Lead Poisoning
Decreased female libido, Abnormality of the menstrual cycle, Oligozoospermia, Decreased circulati... ORPHA:330015
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Aortic valve calcification, Esophageal varix, Calcification of the ao... ORPHA:2072
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... OMIM:300835
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Patent ductus arteriosus, Nephrocalcinosis, High palate, Atrial septal defect, Joint ... OMIM:618005
Alport Syndrome 3A, Autosomal Dominant
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, T... OMIM:104200
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole... OMIM:267700
Cholestasis-Lymphedema Syndrome
Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia OMIM:214900
Williams Syndrome
Osteopenia, Hypoplasia of penis, Bicuspid aortic valve, Elevated circulating creatine kinase conc... ORPHA:904
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Epiphyseal Chondrodysplasia, Miura Type
Osteopenia, Abnormal circulating beta-C-terminal telopeptide concentration, Elevated alkaline pho... OMIM:615923
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Tyrosinemia, Type I
Acute hepatic failure, Elevated hepatic transaminase, Hypertyrosinemia, Renal insufficiency, Elev... OMIM:276700
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Relapsing Fever
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... ORPHA:91547
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Rh Deficiency Syndrome
Hemolytic anemia, Macrocytic anemia, Reticulocytosis, Anisocytosis, Spherocytosis, Hepatosplenome... ORPHA:71275
Autosomal Recessive Hypophosphatemic Rickets
Abnormal trabecular bone morphology, Increased bone mineral density, Short stature, Osteomalacia,... ORPHA:289176
Aromatase Deficiency
Osteopenia, Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Femal... ORPHA:91
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Acute Adrenal Insufficiency
Hyponatremia, Decreased circulating cortisol level, Decreased female libido, Hypercalcemia, Adren... ORPHA:95409
Catel-Manzke Syndrome
Ventricular septal defect, Camptodactyly of finger, Joint stiffness, Cleft palate, Glossoptosis, ... ORPHA:1388
Ciliary Dyskinesia, Primary, 15
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm OMIM:613808
Pontocerebellar Hypoplasia, Type 15
Thrombocytopenia, Chronic neutropenia, Anemia OMIM:619302
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Basal Ganglia Calcification, Idiopathic, 1
Urinary incontinence, Abnormal circulating calcium concentration, Basal ganglia calcification, Ca... OMIM:213600
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Nephrocalcinosis, Flexion contracture OMIM:617105
Intrauterine Growth Retardation With Increased Mitomycin C Sensitivity
Postnatal growth retardation, Intrauterine growth retardation OMIM:600546
Cystic Echinococcosis
Elevated hepatic transaminase, Abnormality of the testis size, Jaundice, Bone cyst, Renal cyst, A... ORPHA:400
Biliary Atresia, Extrahepatic
Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin OMIM:210500
Hypogonadotropic Hypogonadism 4 With Or Without Anosmia
Diabetes mellitus, Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Absence of ... OMIM:610628
Pseudoxanthoma Elasticum
Abnormal endocardium morphology, Cerebral calcification, Abnormal cerebral vascular morphology, A... ORPHA:758
Atypical Hemolytic Uremic Syndrome
Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:2134
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation
Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Postnatal growth ... ORPHA:254531
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Distal Renal Tubular Acidosis
Hyperphosphaturia, Osteomalacia, Hypocitraturia, Rickets, Nephrolithiasis, Renal cyst, Increased ... ORPHA:18
Immunodeficiency 15B
Monocytosis, Reduced natural killer cell count OMIM:615592
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density, Hyperinsulinemia OMIM:618406
Pontocerebellar Hypoplasia, Type 14
Chronic neutropenia, Thrombocytopenia OMIM:619301
Refractory Celiac Disease
Elevated hepatic transaminase, Villous atrophy, Elevated alkaline phosphatase of bone origin, Mal... ORPHA:398063
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Spondyloepiphyseal Dysplasia Tarda
Osteoarthritis of the distal interphalangeal joint, Abnormality of the tibial plateaux, Limited e... ORPHA:93284
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy OMIM:601163
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating... ORPHA:247598
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Pericardial effusion, Abnormal renal tubular resorption, Dilated cardiomyopathy, Hypercalciuria, ... ORPHA:73224
Melkersson-Rosenthal Syndrome
Facial palsy, Furrowed tongue OMIM:155900
Glycogen Storage Disease Vii
Hemolytic anemia, Reticulocytosis, Elevated circulating creatine kinase concentration, Reduced er... OMIM:232800
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Raine Syndrome
Natal tooth, Increased bone mineral density, Cerebral calcification, Hydroureter, Protruding tong... OMIM:259775
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Pseudoxanthoma Elasticum, Forme Fruste
Medial calcification of large arteries, Premature occlusive vascular stenosis, Cerebral hemorrhag... OMIM:177850
Pierre Robin Sequence With Facial And Digital Anomalies
Glossoptosis, Pierre-Robin sequence, Cleft palate OMIM:311895
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Thrombocytopenia OMIM:314000
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia OMIM:616738
Lethal Recessive Chondrodysplasia
Micromelia, Generalized osteosclerosis, Short long bone, Flared elbow metaphyses, Limb undergrowth ORPHA:1423
Linear Verrucous Nevus Syndrome
Short metacarpal, Toe syndactyly, Hypophosphatemia, Reduced bone mineral density ORPHA:2611
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
Hypocalcemia DECIPHER:16
Renal Cysts And Diabetes Syndrome
Renal cyst, Pancreatic hypoplasia, Atretic vas deferens, Hypospadias, Abnormality of the kidney, ... OMIM:137920
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Increased bone mineral density, Short stature, Recurrent fractures, Arachnodac... OMIM:614856
Spondyloepimetaphyseal Dysplasia, Missouri Type
Disproportionate short stature, Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Femo... ORPHA:93356
Monosomy 13Q34
Metrorrhagia, Hypercalcemia, Postaxial hand polydactyly, Growth delay, Postaxial foot polydactyly ORPHA:96168
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism OMIM:300886
Weismann-Netter Syndrome
Bowing of the long bones, Severe short stature, Abnormal morphology of ulna, Abnormality of the t... ORPHA:3344
Familial Mediterranean Fever
Acute hepatic failure, Pericarditis, Intestinal obstruction, Proteinuria, Malabsorption, Orchitis... ORPHA:342
Cholestasis, Benign Recurrent Intrahepatic, 1
Conjugated hyperbilirubinemia, Increased serum bile acid concentration OMIM:243300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,... OMIM:228930
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Hypercalcemia, ... OMIM:131100
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Hypercalcemia, Paraganglioma ORPHA:94080
Rhabdoid Tumor
Hypercalcemia ORPHA:69077
Bartter Syndrome, Type 2, Antenatal
Osteopenia, Hyperchloriduria, Increased serum prostaglandin E2, Polyuria, Renal salt wasting, Inc... OMIM:241200
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Cerebral calcification, Facial palsy, ... ORPHA:2780
Oncogenic Osteomalacia
Abnormal pelvis bone morphology, Abnormality of the tarsal bones, Fibrous dysplasia of the bones,... ORPHA:352540
Moyamoya Disease With Early-Onset Achalasia
Abnormal platelet aggregation, Thrombocytopenia ORPHA:401945
Lesch-Nyhan Syndrome
Nephrolithiasis, Hyperuricosuria, Nephrocalcinosis, Hyperuricemia, Testicular atrophy, Podagra OMIM:300322
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Elevated circulating alpha... OMIM:613095
Cholesteryl Ester Storage Disease
Acute hepatic failure, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholes... OMIM:278000
Hemorrhagic Fever-Renal Syndrome
Elevated hepatic transaminase, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, H... ORPHA:340
Transaldolase Deficiency
Thrombocytopenia, Hepatosplenomegaly, Abnormal circulating glutamine concentration, Increased ser... ORPHA:101028
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2
Medullary nephrocalcinosis, Hypercalciuria, Subcutaneous calcification OMIM:617993
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced sperm motility OMIM:615434
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Hypercalcemia, Recurrent fractures, Craniosynostosis, Increased blood urea nitroge... ORPHA:251004
Drug-Induced Autoimmune Hemolytic Anemia
Splenomegaly, Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90037
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Folate Malabsorption, Hereditary
Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia OMIM:229050
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Limited hip extension, Shou... OMIM:617114
Osteopetrosis, Autosomal Recessive 6
Dense metaphyseal bands, Osteopetrosis, Erlenmeyer flask deformity of the femurs, Cortical sclero... OMIM:611497
Hepatic Veno-Occlusive Disease
Increased total bilirubin ORPHA:890
Isolated Polycystic Liver Disease
Increased total bilirubin ORPHA:2924
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Cryptorchidism, Primary amenorrhea, Small pituitary gland, Micropenis, Decreased testicular size OMIM:614880
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Premature ovarian insufficiency, Female hypogonadism, Chr... OMIM:240300
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia OMIM:610539
Familial Bicuspid Aortic Valve
Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab... ORPHA:402075
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Ciliary Dyskinesia, Primary, 22
Reduced sperm motility, Infertility, Absent inner and outer dynein arms OMIM:615444
Forsythe-Wakeling Syndrome
Thrombocytopenia OMIM:613606
Hypomagnesemia 3, Renal
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... OMIM:248250
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... OMIM:618913
Thrombocytopenia With Congenital Dyserythropoietic Anemia
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... ORPHA:67044
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... OMIM:248190
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Tongue atrophy, Facial palsy, Elevated circulating cre... OMIM:158900
Gracile Bone Dysplasia
Short stature, Flared metaphysis, Slender long bone, Hypocalcemia, Micropenis, Decreased skull os... OMIM:602361
Hepatoportal Sclerosis
Hypersplenism, Thrombocytopenia, Splenomegaly, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, A... ORPHA:64743
Immunodeficiency 46
Neutropenia, Anemia, Intermittent thrombocytopenia OMIM:616740
Hermansky-Pudlak Syndrome 9
Leukopenia, Abnormal platelet aggregation, Thrombocytopenia OMIM:614171
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency
Elevated creatine kinase after exercise, Hypercalcemia ORPHA:284426
Isolated Pierre Robin Syndrome
Glossoptosis, Cleft palate ORPHA:718
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Neonatal hyperbilirubinemia ORPHA:3363
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Precocious puberty, Abnormality of alkaline phosphatase level, Delayed eruption of permanent teet... OMIM:619356
Chondrodysplasia, Blomstrand Type
Laryngeal calcification, Generalized osteosclerosis, Advanced ossification of carpal bones, Advan... OMIM:215045
Bartter Syndrome, Type 3
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... OMIM:607364
Generalized Glucocorticoid Resistance Syndrome
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... ORPHA:786
Small Cell Carcinoma Of The Bladder
Hypercalcemia ORPHA:284400
Beemer-Ertbruggen Syndrome
Ambiguous genitalia, Cryptorchidism, Deep philtrum, Increased bone mineral density ORPHA:1237
Spastic Paraplegia-Precocious Puberty Syndrome
Hyperplasia of the Leydig cells, Precocious puberty in males ORPHA:2826
Trisomy 8P
Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Fetal pyelecta... ORPHA:264450
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Abnormal pelvic girdle bone morphology, Osteopetrosis, Calvarial oste... OMIM:607634
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Cholestasis, Progressive Familial Intrahepatic, 7, With Or Without Hearing Loss
Elevated circulating aspartate aminotransferase concentration, Jaundice, Elevated circulating ala... OMIM:619658
Fanconi Anemia, Complementation Group T
Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia OMIM:616435
Bernard-Soulier Syndrome
Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag... OMIM:231200
Thrombocythemia 1
Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre... OMIM:187950
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Cerebral ca... ORPHA:1782
Lipoyltransferase 1 Deficiency
Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin OMIM:616299
Asplenia, Isolated Congenital
Asplenia, Thrombocytosis, Howell-Jolly bodies OMIM:271400
Proximal Renal Tubular Acidosis
Hyperphosphaturia, Malabsorption, Enamel hypomineralization, Bicarbonaturia, Bicarbonate-wasting ... ORPHA:47159
Slc35A1-Cdg
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia ORPHA:238459
Al Amyloidosis
Renal insufficiency, Increased circulating NT-proBNP concentration, Proteinuria, Abnormality of t... ORPHA:85443
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Nephrocalcinosis, Clitoral hypoplasia, Micropenis, R... OMIM:268310
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Late-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... ORPHA:556037
Williams-Beuren Syndrome
Osteopenia, Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Atrial... OMIM:194050
Paget Disease Of Bone 4
Elevated circulating alkaline phosphatase concentration, Osteolysis OMIM:606263
Aicardi-Goutieres Syndrome 3
Thrombocytopenia, Hepatosplenomegaly OMIM:610329
Myasthenic Syndrome, Congenital, 10
Tongue atrophy, Proximal amyotrophy, Distal amyotrophy, Weakness of facial musculature, Mildly el... OMIM:254300
Infantile Sialic Acid Storage Disease
Conjugated hyperbilirubinemia, Splenomegaly, Vacuolated lymphocytes OMIM:269920
Hypocalciuric Hypercalcemia, Familial, Type I
Parathyroid adenoma, Hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145980
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,... OMIM:613011
Beckwith-Wiedemann Syndrome
Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pancreatic hyper... OMIM:130650
9Q21.13 Microdeletion Syndrome
Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturn... ORPHA:531151
Uremic Pruritus
Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Neurodevelopmental Disorder With Hypotonia And Cerebellar Atrophy, With Or Without Seizures
Thin upper lip vermilion, Dental crowding, Low alkaline phosphatase OMIM:618879
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy OMIM:160900
Systemic Lupus Erythematosus 17
Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia OMIM:301080
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hyponatremia, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, T... OMIM:603553
Congenital Disorder Of Glycosylation, Type Iil
Elevated hepatic transaminase, Ventricular septal defect, Elevated circulating creatine kinase co... OMIM:614576
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Osteopenia, Villous atrophy, Medial calcification of large arteries, Esophageal carcinoma, Functi... ORPHA:391487
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Shor... ORPHA:2238
3-Methylglutaconic Aciduria Type 7
Elevated hepatic transaminase, Renal insufficiency, Renal cyst, Nephrocalcinosis, Cardiomyopathy,... ORPHA:445038
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Coxa valga, Flat acetabular roof, Flattened epiphysis, Hemiatroph... ORPHA:163649
Wolfram Syndrome, Mitochondrial Form
Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia OMIM:598500
Ciliary Dyskinesia, Primary, 9
Male infertility, Absent outer dynein arms OMIM:612444
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy OMIM:618165
Floating-Harbor Syndrome
Glandular hypospadias, Downturned corners of mouth, Nephrocalcinosis, Short philtrum, Atrial sept... OMIM:136140
Trisomy 8Q
Hypoplasia of penis, Camptodactyly of finger, Joint stiffness, Cryptorchidism, Non-midline cleft ... ORPHA:1752
Hypotonia-Cystinuria Syndrome
Postnatal growth retardation, Hypocalcemia, Hypergonadotropic hypogonadism, Decreased response to... OMIM:606407
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Osteopenia, Short metacarpal, Diabetes mellitus, Rhizomelia, Brachydactyly, Short metatarsal, Sma... OMIM:614813
Primary Hyperoxaluria Type 3
Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... ORPHA:93600
X-Linked Intellectual Disability, Shashi Type
Macroorchidism ORPHA:85286
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14
Short stature, Hypercholesterolemia, Maturity-onset diabetes of the young, Precocious puberty, Cr... ORPHA:96184
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g... OMIM:601399
Gaucher Disease, Type Iii
Vascular calcification, Decreased beta-glucocerebrosidase level OMIM:231000
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Hypercalcemia, Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Aplasia of th... ORPHA:476126
Gaisböck Syndrome
Hypertriglyceridemia, Peptic ulcer, Peripheral arterial stenosis, Gout, Nephrocalcinosis, Hyperna... ORPHA:90041
Autoinflammation With Infantile Enterocolitis
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... OMIM:616050
Ciliary Dyskinesia, Primary, 5
Reduced sperm motility OMIM:608647
Early-Onset Familial Hypoaldosteronism
Hyponatremia, Abnormal external genitalia, Postnatal growth retardation, Hyperkalemia, Abnormal c... ORPHA:556030
Lenz-Majewski Hyperostotic Dwarfism
External genital hypoplasia, Epispadias, Abnormal finger morphology, Symphalangism affecting the ... ORPHA:2658
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Elevated hepatic transaminase, Nephrocalcinosis, Irregular ossification at a... OMIM:260400
Hypocalciuric Hypercalcemia, Familial, Type Ii
Primary hyperparathyroidism, Hypermagnesemia, Hypercalcemia OMIM:145981
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Bile Acid Conjugation Defect 1
Conjugated hyperbilirubinemia OMIM:619232
Celiac Disease, Susceptibility To, 1
Short stature, Postnatal growth retardation, Osteoporosis, Rickets, Steatorrhea, Thyroiditis, Inf... OMIM:212750
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Multiple bony cystic lesions, Mandibular osteomyelitis, Supe... ORPHA:83451
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Prominent superficial veins, Dental crowding, Bilateral cryptorchidism, Pyloric ste... OMIM:617402
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis, Abnormality of the dentition OMIM:125440
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Small scrotum, Hypospadias, Rhizomelia, Short femur, Sandal gap, Cryptorchidism, H... OMIM:607143
Atypical Werner Syndrome
Sclerosis of hand bone, Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Reduced b... ORPHA:79474
Bartter Syndrome, Type 5, Antenatal, Transient
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... OMIM:300971
Bleeding Disorder, Platelet-Type, 21
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... OMIM:617443
Hypermanganesemia With Dystonia 1
Hypermanganesemia, Polycythemia, Increased total iron binding capacity, Unconjugated hyperbilirub... OMIM:613280
Lymphoproliferative Syndrome, X-Linked, 1
Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal... OMIM:308240
Pheochromocytoma--Islet Cell Tumor Syndrome
Pheochromocytoma, Hypercalcemia OMIM:171420
Alpha-Heavy Chain Disease
Growth delay, Hypocalcemia ORPHA:100025
Hereditary Spherocytosis
Reticulocytosis, Spontaneous hemolytic crises, Extramedullary hematopoiesis, Splenomegaly, Sphero... ORPHA:822
Platelet Disorder, Undefined
Impaired platelet aggregation, Thrombocytopenia OMIM:173420
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, High palate, Wrist f... ORPHA:800
Hypermethioninemia Due To Adenosine Kinase Deficiency
Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ... OMIM:614300
Schnitzler Syndrome
Arthritis, Increased bone mineral density, Vasculitis ORPHA:37748
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Mitral valve calcification, Hypoplasia of the tooth germ, C... OMIM:182250
Peroxisome Biogenesis Disorder 5A (Zellweger)
Conjugated hyperbilirubinemia, Renal cyst, High palate, Elevated gamma-glutamyltransferase level,... OMIM:614866
Floating-Harbor Syndrome
Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial septal defect, Microdontia, Mes... ORPHA:2044
Desmosterolosis
Increased bone mineral density, Renal agenesis, Intestinal malrotation, Renal hypoplasia/aplasia,... ORPHA:35107
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome
Abscess, Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, ... OMIM:150550
Fibrodysplasia Ossificans Progressiva
Progressive cervical vertebral spine fusion, Ectopic ossification in tendon tissue, Basal ganglia... OMIM:135100
Ghosal Hematodiaphyseal Dysplasia
Refractory anemia, Leukopenia, Thrombocytopenia OMIM:231095
Wt Limb-Blood Syndrome
Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia OMIM:194350
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Desmosterolosis
Generalized osteosclerosis, Patent ductus arteriosus, Ambiguous genitalia, female, Alveolar ridge... OMIM:602398
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility
Reduced progressive sperm motility OMIM:619608
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Aicardi-Goutieres Syndrome 6
Splenomegaly, Hemolytic anemia, Thrombocytopenia OMIM:615010
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Abnormal heart valve morphology, Hypospadias, Tarsal synostosis, ... ORPHA:90652
Dysostosis, Stanescu Type
Increased bone mineral density, Cerebral calcification, Abnormal dental enamel morphology, Abnorm... ORPHA:1798
Xq12-Q13.3 Duplication Syndrome
Elevated circulating creatine kinase concentration, Cryptorchidism, Low alkaline phosphatase, Eve... ORPHA:314389
Leishmaniasis
Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ... ORPHA:507
Primary Hyperoxaluria Type 2
Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca... ORPHA:93599
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Elevated circulating creatine kinase concentration, Rhabdomyolysis, Hyperkalemia, Oli... ORPHA:466650
Bile Acid Synthesis Defect, Congenital, 2
Splenomegaly, Hyperbilirubinemia OMIM:235555
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Joint laxity, Duplicated collecting system, Elevated circulating aspartate aminotransferase conce... OMIM:617093
Sitosterolemia 1
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... OMIM:210250
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, Disproportionate short stature, Abnormal ... OMIM:224300
Bartter Syndrome Type 4
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... ORPHA:89938
Gapo Syndrome
Delayed eruption of teeth, Dysmenorrhea, Abnormal cerebral vascular morphology, Nephrolithiasis, ... ORPHA:2067
Juvenile Nephropathic Cystinosis
Aminoaciduria, Renal Fanconi syndrome, Hypocalcemia, Low-molecular-weight proteinuria, Hypocalcem... ORPHA:411634
Dahlberg-Borer-Newcomer Syndrome
Hypoparathyroidism, Brachydactyly, Short stature, Hypocalcemia, Hypothyroidism, Short distal phal... ORPHA:1563
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97282
Thrombotic Thrombocytopenic Purpura
Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:54057
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Decreased circulating ceruloplasmin conce... OMIM:616828
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Joint stiffness, Postnatal growth retardation, Metaphyseal widening... OMIM:608940
Leprechaunism
Skeletal muscle atrophy, Enlarged ovaries, Overgrowth of external genitalia, Labial hypertrophy, ... ORPHA:508
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Short stature, Elevated hemoglobin ... OMIM:616113
Cataract-Intellectual Disability-Hypogonadism Syndrome
Hypogonadotropic hypogonadism, Cryptorchidism, Furrowed tongue, High palate, Short philtrum, Ever... ORPHA:1387
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Increased bone mineral density, Broad femoral neck, Short tubular bones of the hand, ... ORPHA:85184
Hijazi-Reis Syndrome
Hyperbilirubinemia OMIM:301094
Diarrhea 10, Protein-Losing Enteropathy Type
Hyponatremia, Hypertriglyceridemia, Cryptorchidism, Elevated circulating thyroid-stimulating horm... OMIM:618183
Orofaciodigital Syndrome V
Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Ventricular septal defect,... OMIM:174300
Autoinflammatory Syndrome, Familial, Behcet-Like 1
Hemolytic anemia, Lymphopenia, Thrombocytopenia OMIM:616744
Biliary, Renal, Neurologic, And Skeletal Syndrome
Osteopenia, Anterior pituitary hypoplasia, Secundum atrial septal defect, Conjugated hyperbilirub... OMIM:619534
Hyperoxaluria, Primary, Type Ii
Hyperoxaluria, Renal insufficiency, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria OMIM:260000
Thrombocytopenia 3
Thrombocytopenia, Decreased mean platelet volume OMIM:273900
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia
Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis OMIM:300367
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Anemia, Thrombocytopenia, Hyperammonemia, Neutropenia ORPHA:289916
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin OMIM:618528
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Osteopenia, Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Vesicou... ORPHA:453499
Ring Chromosome 10 Syndrome
Intrauterine growth retardation, Sandal gap, Hypocalcemia, Tapered finger ORPHA:1438
Pycnodysostosis
Joint laxity, Increased bone mineral density, Decreased serum insulin-like growth factor 1, Rhizo... ORPHA:763
Bone Marrow Failure Syndrome 4
Leukopenia, Thrombocytopenia, Anemia OMIM:618116
Primary Fanconi Renotubular Syndrome
Low-molecular-weight proteinuria, Hypouricemia, Osteomalacia, Increased urinary potassium, Chroni... ORPHA:3337
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612924
Glucose-Galactose Malabsorption
Hypernatremia, Hypercalcemia ORPHA:35710
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97283
Wolcott-Rallison Syndrome
Hyponatremia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis, Hyperbiliru... ORPHA:1667
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Renal dysplasia, Dental crowding, Cleft hard... OMIM:300990
Gaucher Disease
Osteopenia, Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morp... ORPHA:355
Peroxisome Biogenesis Disorder 12A (Zellweger)
Elevated hepatic transaminase, Abnormality of the male genitalia, Abnormal cortical bone morpholo... OMIM:614886
Idiopathic Aplastic Anemia
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia ORPHA:88
Ppoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Abnor... ORPHA:97278
Cholestasis, Progressive Familial Intrahepatic, 8
Elevated circulating aspartate aminotransferase concentration, Portal hypertension, Elevated circ... OMIM:619662
Phosphoglycerate Dehydrogenase Deficiency
Thrombocytopenia, Megaloblastic anemia OMIM:601815
Endosteal Hyperostosis, Autosomal Dominant
Hyperostosis, Abnormal pelvic girdle bone morphology, Metacarpal diaphyseal endosteal sclerosis, ... OMIM:144750
Immunodeficiency 91 And Hyperinflammation
Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto... OMIM:619644
Majeed Syndrome
Glomerulopathy, Increased bone mineral density, Osteomyelitis, Proteinuria, Malabsorption, Flexio... ORPHA:77297
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Elevated hepatic transaminase, Proteinuria, Abnormal circulating fatty-acid concentration, Hyperh... ORPHA:263455
Immunoerythromyeloid Hypoplasia
Absent leukocyte alkaline phosphatase OMIM:242880
Mixed-Type Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Increased total bilirubin ORPHA:90036
Tricho-Dento-Osseous Syndrome
Dental enamel pits, Increased bone mineral density, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Isovaleric Acidemia
Leukopenia, Pancytopenia, Thrombocytopenia OMIM:243500
Glycosylphosphatidylinositol Biosynthesis Defect 11
Macroglossia, Elevated circulating alkaline phosphatase concentration, Tented upper lip vermilion... OMIM:616025
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:276621
Thyrocerebrorenal Syndrome
Thrombocytopenia ORPHA:3327
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612926
Neutrophilia, Hereditary
Elevated leukocyte alkaline phosphatase OMIM:162830
Lathosterolosis
Elevated hepatic transaminase, Foam cells with lamellar inclusion bodies, Bilobate gallbladder, I... OMIM:607330
Senior-Boichis Syndrome
Elevated hepatic transaminase, Thickening of the tubular basement membrane, Portal hypertension, ... ORPHA:84081
Amyotrophic Lateral Sclerosis 20
Elevated circulating alkaline phosphatase concentration, Rimmed vacuoles, Muscle fiber inclusion ... OMIM:615426
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir... OMIM:614857
Vitamin B12-Unresponsive Methylmalonic Acidemia
Macrocytic anemia, Thrombocytopenia, Hyperammonemia, Leukopenia, Anemia ORPHA:27
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Metaphyseal spurs, Micromelia, Bowing of the legs, Metaphyseal widening, S... OMIM:608728
Congenital Disorder Of Glycosylation, Type Iik
Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:614727
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Proteinuria, Pericardial effusion, Osteoarthritis, Os... ORPHA:77259
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Thrombocytopenia, Splenomegaly, Hyperammonemia, Neutropenia, Anemia ORPHA:79312
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Intestinal malrotation, Ectopic kidney, Osteopoikilosis, Renal hypoplasi... ORPHA:94063
Hartnup Disorder
Glossitis, Neutral hyperaminoaciduria OMIM:234500
Cockayne Syndrome
Skeletal muscle atrophy, Cerebral calcification, Urinary incontinence, Basal ganglia calcificatio... ORPHA:191
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia OMIM:620374
Autosomal Dominant Spastic Paraplegia Type 29
Hyperbilirubinemia ORPHA:101009
Beta-Thalassemia
Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Abnormality of iron homeo... ORPHA:848
Kleefstra Syndrome Due To 9Q34 Microdeletion
Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Conotruncal defect, ... ORPHA:96147
Non-Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141179
Macrophage Activation Syndrome
Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increased circulatin... ORPHA:158061
Grfoma
Neoplasm of the pancreas, Hypercalcemia, Elevated circulating growth hormone concentration, Neopl... ORPHA:97261
Congenital Bile Acid Synthesis Defect Type 3
Hyperbilirubinemia, Hepatosplenomegaly ORPHA:79302
Osteopetrosis, Autosomal Recessive 4
Growth delay, Osteopetrosis, Increased bone mineral density, Recurrent fractures OMIM:611490
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Increased skull ossification, Craniofacial osteosclerosis, Metaphyseal widening, Diaphyseal scler... OMIM:618476
Peroxisome Biogenesis Disorder 10B
Nephrocalcinosis, Neurogenic bladder OMIM:617370
Glycogen Storage Disease Xii
Normocytic anemia, Elevated circulating creatine kinase concentration, Splenomegaly, Normochromic... OMIM:611881
Ciliary Dyskinesia, Primary, 19
Male infertility, Absent inner and outer dynein arms OMIM:614935
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel... ORPHA:79500
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2
Peripheral pulmonary artery stenosis, Anal stenosis, Tented upper lip vermilion, Aganglionic mega... OMIM:614749
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Reduced bone mineral density, Ambiguous genitalia, male, ... ORPHA:90796
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Elevated circulating aspartate aminotransferase concentratio... OMIM:280000
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Osteoarthritis, Ulnar bowing, Flared metaphysis, Coxa vara, Femoral bo... OMIM:602111
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Whistling appearance, Narrow mouth, Elbow flexion contracture, Knee... OMIM:277720
Mulibrey Nanism
Dental crowding, Nephroblastoma, Cardiomegaly, Thickened cortex of long bones, Dental malocclusio... OMIM:253250
Neurodevelopmental Disorder With Or Without Hypotonia, Seizures, And Cerebellar Atrophy
Elevated circulating alkaline phosphatase concentration OMIM:616917
Hereditary Pheochromocytoma-Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Hypercalcemia, Adrenal pheochromoc... ORPHA:29072
Multiple Endocrine Neoplasia Type 2
Joint laxity, Paraganglioma of head and neck, Cervical neoplasm, Hypercalcemia, Thyroid C cell hy... ORPHA:653
Opsismodysplasia
Short metacarpal, Rhizomelia, Squared iliac bones, Hypoplastic pubic bone, Flat acetabular roof, ... OMIM:258480
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Postnatal growth retardation, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydac... ORPHA:1655
Quebec Platelet Disorder
Thrombocytopenia, Impaired epinephrine-induced platelet aggregation OMIM:601709
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thin upper lip vermilion, Renal insufficiency, Hypospadias, Hemolytic-uremic syndrome... OMIM:611209
Infantile Nephropathic Cystinosis
Hyperphosphaturia, Abnormality of thyroid physiology, Rickets, Abnormal blood ion concentration, ... ORPHA:411629
Amed Syndrome, Digenic
Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia OMIM:619151
Vascular Malformation, Primary Intraosseous
Diastasis recti, Elevated circulating alkaline phosphatase concentration, Ectopic tooth eruption,... OMIM:606893
Maternal Uniparental Disomy Of Chromosome 2
Premature ovarian insufficiency, Hypospadias, Decreased response to growth hormone stimulation te... ORPHA:96179
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Basal ganglia calcification, Flexion contracture, Renal hypoplasia, Card... ORPHA:90324
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Cerebral calcification, Aplasia/Hypoplasia of the tongue, Facial palsy, ... ORPHA:1358
Autosomal Dominant Severe Congenital Neutropenia
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... ORPHA:486
Poems Syndrome
Sclerosis of hand bone, Diabetes mellitus, Sclerosis of foot bone, Abnormality of the endocrine s... ORPHA:2905
Thrombocytopenia, Paris-Trousseau Type
Thrombocytopenia OMIM:188025
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation OMIM:609054
Lysosomal Acid Lipase Deficiency
Adrenal calcification, Bone-marrow foam cells, Renal salt wasting, Precocious atherosclerosis, Hy... ORPHA:275761
Cholestasis, Benign Recurrent Intrahepatic, 2
Conjugated hyperbilirubinemia OMIM:605479
Joubert Syndrome 18
Joint laxity, Ventricular septal defect, Cleft palate, Renal cyst, Horseshoe kidney, Lobulated to... OMIM:614815
Methylmalonic Aciduria, Cblb Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251110
Osteosarcoma
Abnormal lactate dehydrogenase level, Osteolysis, Elevated circulating alkaline phosphatase conce... ORPHA:668
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Short stature, Cranial hyperostosis, Flared metaphysis, Growth de... OMIM:259720
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Hyponatremia, Pancytopenia, Hypomagnesemia, Thrombocytopenia, Leukopenia, Hyperuricemia, Increase... OMIM:613845
Multiple Myeloma
Osteopenia, Hypercalcemia, Elevated circulating creatinine concentration, Hyperproteinemia, Patho... ORPHA:29073
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Wolfram Syndrome 1
Hypothyroidism, Diabetes mellitus, Testicular atrophy, Diabetes insipidus OMIM:222300
Osteopetrosis With Renal Tubular Acidosis
Abnormal circulating enzyme concentration or activity, Cerebral calcification, Recurrent fracture... ORPHA:2785
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia OMIM:251000
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Clark-Baraitser syndrome
Joint laxity, Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palat... OMIM:300602
Estrogen Resistance Syndrome
Osteopenia, Enlarged polycystic ovaries, Elevated tissue non-specific alkaline phosphatase, Incre... ORPHA:785
Opitz Gbbb Syndrome
Bifid scrotum, Congenital diaphragmatic hernia, High palate, Atrial septal defect, Vesicoureteral... ORPHA:2745
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Hypogeusia, Low alkaline phosphatase, Decreased serum zinc, Hypogonadism, Decreased testicular size OMIM:201100
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Thin upper lip vermilion, Tented upper lip vermilion, Aganglionic megacolon, Cleft upper lip, Abn... OMIM:239300
Auriculocondylar Syndrome 2A
Dental crowding, Microglossia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:614669
3-Methylglutaconic Aciduria Type 4
Thrombocytopenia ORPHA:67048
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5
Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas... OMIM:612925
Kleefstra Syndrome 1
U-Shaped upper lip vermilion, Natal tooth, Hypospadias, Persistence of primary teeth, Protruding ... OMIM:610253
Spondyloepimetaphyseal Dysplasia, Krakow Type
Elbow contracture, Patent ductus arteriosus, Delayed pubic bone ossification, Knee flexion contra... OMIM:618162
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Hypercalcemia, Elevated circulating growth hormone c... ORPHA:97280
Calvarial Doughnut Lesions With Bone Fragility
Osteopenia, Recurrent fractures, Carious teeth, Osteoporosis, Elevated circulating alkaline phosp... OMIM:126550
Refractory Anemia With Excess Blasts
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... ORPHA:86839
Sea-Blue Histiocytosis
Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis ORPHA:158029
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... ORPHA:1031
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Hypogonadotropic hypogonadism, Abnormal pericardiu... ORPHA:35687
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Cerebral calcification, Proteinuria, Nephropathy, Elevated circulating creatinine concentration, ... ORPHA:247691
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Hyperhidro... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Osteopenia, Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Hyperhidro... ORPHA:352665
Gaucher Disease Type 3
Mitral valve calcification, Increased bone mineral density, Abnormal heart valve morphology, Prot... ORPHA:77261
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub... OMIM:251880
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Distal symphalangism, Coxa vara, Tibial bowing, Hypoplastic iliac wing, Clinodactyly of the 5th f... OMIM:210720
Developmental And Epileptic Encephalopathy 95
Joint laxity, Multiple joint contractures, Cardiomegaly, Cryptorchidism, Deep philtrum, Gingival ... OMIM:618143
Cog4-Cdg
Elevated hepatic transaminase, Fatal liver failure in infancy, Elevated circulating alkaline phos... ORPHA:263501
Thyrocerebroretinal Syndrome
Thrombocytopenia OMIM:274240
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Methylmalonic acidemia, Thin upper lip vermilion, Decreased methionine synthase activity, Stomati... OMIM:277380
Autosomal Recessive Primary Microcephaly
Vesicoureteral reflux, Thin upper lip vermilion, Abnormal cortical bone morphology, Unilateral re... ORPHA:2512
Craniofacioskeletal Syndrome
Absent gallbladder, Hypospadias, Short stature, Cryptorchidism, Small hand, Short foot, Hypocalce... OMIM:300712
Gorham-Stout Disease
Osteopenia, Torticollis, Osteomyelitis, Elevated alkaline phosphatase of bone origin, Osteolysis ... ORPHA:73
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Osteolysis, Foot acroosteolysis, Reduced bone mineral density, Hyperhidr... ORPHA:970
Microphthalmia With Limb Anomalies
Toe syndactyly, Unilateral cryptorchidism, Sandal gap, Postnatal growth retardation, Capitate-ham... OMIM:206920
Robin Sequence-Oligodactyly Syndrome
Glossoptosis, Cleft palate, Abnormality of the dentition ORPHA:3104
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Premature ovarian insufficiency, Camptodactyly of finger, Furrowed tongue ORPHA:2928
Pearson Marrow-Pancreas Syndrome
Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut... OMIM:557000
Isolated Congenital Hypoglossia/Aglossia
Microglossia, Cleft palate ORPHA:141152
Rapidly Involuting Congenital Hemangioma
Thrombocytopenia ORPHA:141184
Myh9-Related Disease
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... ORPHA:182050
Cartilage-Hair Hypoplasia
Micromelia, Metaphyseal chondrodysplasia, Tibial bowing, Hypocalcemia, Short palm, Abnormal bone ... ORPHA:175
Epilepsy, Progressive Myoclonic, 9
Microglossia, Generalized amyotrophy OMIM:616540
Congenital Disorder Of Glycosylation, Type Iif
Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia OMIM:603585
Cholestasis, Progressive Familial Intrahepatic, 2
Conjugated hyperbilirubinemia, Splenomegaly OMIM:601847
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Stenosis of the medullary cavity of the long bones, Diaphyseal cortical sclerosis, Pa... OMIM:112250
Aicardi-Goutieres Syndrome 4
Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly OMIM:610333
Isolated Agammaglobulinemia
Recurrent cutaneous abscess formation, Abnormality of neutrophils, Thrombocytopenia, Abnormal lym... ORPHA:229717
Tibial Aplasia-Ectrodactyly Syndrome
Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Limitation... ORPHA:3329
Distal Limb Deficiencies-Micrognathia Syndrome
Renal insufficiency, Proteinuria, Tarsal synostosis, Cryptorchidism, Renal hypoplasia, Cleft pala... ORPHA:1307
Idiopathic Congenital Hypothyroidism
Neonatal hyperbilirubinemia ORPHA:95717
Noonan Syndrome 12
Lymphopenia, Thrombocytopenia OMIM:618624
Paget Disease Of Bone 3
Fractures of the long bones, Elevated circulating alkaline phosphatase concentration, Osteolysis,... OMIM:167250
Imerslund-Gräsbeck Syndrome
Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno... ORPHA:35858
Osteopetrosis, Autosomal Recessive 8
Splenomegaly, Thrombocytopenia, Anemia OMIM:615085
Ritscher-Schinzel Syndrome 2
Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Cr... OMIM:300963
Orofaciodigital Syndrome Type 5
Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac... ORPHA:2919
Systemic Lupus Erythematosus
Hemolytic anemia, Thrombocytopenia, Leukopenia OMIM:152700
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Clinodactyly of the 5th finger, Increased bone mineral density, Short stature, Osteopetrosis OMIM:617306
Preeclampsia
Elevated circulating creatinine concentration, Thrombocytopenia ORPHA:275555
Hyperparathyroidism, Transient Neonatal
Osteopenia, Hyperparathyroidism, Recurrent fractures, Unilateral renal agenesis, Patent ductus ar... OMIM:618188
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Hypothyroidism, Infertility, Erectile dysfuncti... ORPHA:465508
Robinow Syndrome, Autosomal Dominant 3
Ventricular septal defect, Hypoplastic right heart, Cryptorchidism, Cleft lip, Patent ductus arte... OMIM:616894
Agammaglobulinemia 9, Autosomal Recessive
Thrombocytopenia, Absent circulating B cells OMIM:619693
Robinow Syndrome
Small scrotum, Dental crowding, External genital hypoplasia, Orofacial cleft, Clitoral hypoplasia... ORPHA:97360
Trichohepatoneurodevelopmental Syndrome
Dental crowding, Downturned corners of mouth, High palate, Widely spaced teeth, Microdontia, Hypo... OMIM:618268
Chronic Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529808
Acute Bilirubin Encephalopathy
Hemolytic anemia, Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia ORPHA:529799
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Postnatal growth r... ORPHA:453533
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Osteopenia, Elevated circulating alkaline phosphatase concentration, Osteoporosis ORPHA:529665
Silver-Russell Syndrome Due To A Point Mutation
Bifid scrotum, Syndactyly, Hypospadias, Dysmenorrhea, Postnatal growth retardation, Cryptorchidis... ORPHA:397590
Tetrasomy 9P
Myositis, Dental crowding, Downturned corners of mouth, High palate, Short philtrum, Micropenis, ... ORPHA:3310
Autosomal Recessive Robinow Syndrome
Hypoplasia of penis, Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Ab... ORPHA:1507
Bile Acid Synthesis Defect, Congenital, 4
Decreased serum bile acid concentration, Hyperbilirubinemia OMIM:214950
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant
Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in... OMIM:153670
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ... OMIM:612938
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level ORPHA:95715
Stuve-Wiedemann Syndrome 2
Thrombocytopenia OMIM:619751
Bleeding Disorder, Platelet-Type, 17
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... OMIM:187900
Primary Ciliary Dyskinesia
Male infertility, Abnormal sperm motility, Female infertility ORPHA:244
Immunodeficiency 98 With Autoinflammation, X-Linked
Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra... OMIM:301078
Babesiosis
Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:108
Distal Deletion 15Q
Bicuspid aortic valve, Congenital diaphragmatic hernia, Generalized joint laxity, Abnormal aortic... ORPHA:1596
Insulin-Like Growth Factor I Deficiency
Osteopenia, Decreased serum insulin-like growth factor 1, Short stature, Elevated circulating gro... OMIM:608747
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Increased serum bile acid concentration, Hyperbilirubinemia OMIM:619685
Autoimmune Lymphoproliferative Syndrome, Type Iia
Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p... OMIM:603909
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Long toe, Hyperextensibility of the finger joints, Absent gallbladder, Hypospadias, Short stature... ORPHA:163979
Osteopetrosis, Autosomal Recessive 2
Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Carious teeth, Mandibular osteo... OMIM:259710
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Femoral bowing, Broad distal phalanx of the thumb, Shor... OMIM:311300
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypoplasia of the mu... OMIM:254940
Omenn Syndrome
Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,... OMIM:603554
Cholestasis, Progressive Familial Intrahepatic, 1
Conjugated hyperbilirubinemia, Splenomegaly OMIM:211600
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Thyroid lymphangiectasia, Cryptorchidism, Pancreatic lymphangiectasis, Postaxial hand polydactyly... OMIM:235255
Osteogenesis Imperfecta, Type Xiv
Osteopenia, Short stature, Recurrent fractures, Femoral bowing, Increased susceptibility to fract... OMIM:615066
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Cardiomegaly, Protruding tongue, Abnormal atrioventricular valve morphology, Mitral valve prolaps... ORPHA:324410
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Dupuytren contracture, Myositis, Limited ... ORPHA:39812
Cholestasis, Progressive Familial Intrahepatic, 6
Conjugated hyperbilirubinemia OMIM:619484
Ritscher-Schinzel Syndrome 3
Hypoplasia of the ulna, Postnatal growth retardation, Cryptorchidism, Ulnar bowing, Poorly ossifi... OMIM:619135
Arthrogryposis, Distal, Type 5D
Tongue atrophy, Decreased muscle mass, Limited elbow movement, Limited knee flexion, Elbow flexio... OMIM:615065
Gray Platelet Syndrome
Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ... OMIM:139090
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc... ORPHA:90038
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Duplicated collecting system, Hip contracture, Bilateral fetal pyelectasis, Patent ductus arterio... OMIM:300868
Microvillus Inclusion Disease
Nephrocalcinosis, Villous atrophy, Abnormal small intestinal villus morphology, Abnormal renal ph... ORPHA:2290
Hereditary Fructose Intolerance
Renal insufficiency, Reduced circulating aldolase concentration, Episodic hyperhidrosis, Jaundice... ORPHA:469
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Autosomal Recessive Malignant Osteopetrosis
Bowing of the long bones, Recurrent fractures, Craniosynostosis, Reduced bone mineral density, Gr... ORPHA:667
Pheochromocytoma
Pheochromocytoma, Hypercalcemia OMIM:171300
Specific Granule Deficiency 2
Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia OMIM:617475
Bile Acid Synthesis Defect, Congenital, 3
Elevated circulating aspartate aminotransferase concentration, Intrahepatic cholestasis, Jaundice... OMIM:613812
Proteasome-Associated Autoinflammatory Syndrome 2
Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia... OMIM:618048
Drug-Induced Lupus Erythematosus
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:231111
Pearson Syndrome
Decreased response to growth hormone stimulation test, Renal cyst, Hypocalcemia, Hypothyroidism, ... ORPHA:699
Dubin-Johnson Syndrome
Conjugated hyperbilirubinemia ORPHA:234
Pelger-Huet Anomaly
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ... OMIM:169400
Sarcoidosis
Renal insufficiency, Hyperthyroidism, Hypercalcemia, Portal hypertension, Facial palsy, Abnormal ... ORPHA:797
Bile Acid Synthesis Defect, Congenital, 1
Conjugated hyperbilirubinemia, Splenomegaly, Hypocholesterolemia OMIM:607765
Peroxisome Biogenesis Disorder 1A (Zellweger)
Ventricular septal defect, Hypospadias, Protruding tongue, High, narrow palate, Cryptorchidism, P... OMIM:214100
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly ORPHA:210136
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Craniometadiaphyseal Dysplasia
Osteopenia, Natal tooth, Dental crowding, Carious teeth, Elevated circulating alkaline phosphatas... OMIM:269300
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Sideroblastic anemia, Extramedullary hematopoiesis, Thrombocytopenia, Increased mean corpuscular ... OMIM:617021
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Distal lower limb amyotrophy, Thin upper lip vermilion, Facial hypotonia, Diastema, Cryptorchidis... OMIM:300534
Lethal Faciocardiomelic Dysplasia
Radial club hand, Patent ductus arteriosus, Hypoplastic left heart, Narrow mouth, Microglossia ORPHA:1972
Angioosteohypotrophic Syndrome
Venous malformation, Abnormal trabecular bone morphology, Prominent superficial veins, Thin bony ... ORPHA:75508
Moyamoya Disease 6 With Or Without Achalasia
Thrombocytopenia OMIM:615750
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Clubbing, Clubbing of fingers, Hypokalemia, Hypocalcemia, Hypomagnesemia OMIM:175500
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p... ORPHA:101096
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
Joint laxity, Pierre-Robin sequence, Advanced ossification of carpal bones, Cleft palate, Glossop... OMIM:620269
Primary Myelofibrosis
Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos... ORPHA:824
Blomstrand Lethal Chondrodysplasia
Increased bone mineral density, Short metacarpal, Rhizomelia, Bowing of the long bones, Aplastic ... ORPHA:50945
Atelis Syndrome 1
Leukopenia, Thrombocytopenia, Anemia OMIM:620184
Colchicine Poisoning
Hyponatremia, Renal insufficiency, Myocarditis, Abnormal blood ion concentration, Oliguria, Hypop... ORPHA:31824
Caroli Syndrome
Liver abscess, Conjugated hyperbilirubinemia, Hypersplenism, Leukocytosis, Leukopenia, Hyperbilir... ORPHA:480520
Propionic Acidemia
Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutropenia, Anemia OMIM:606054
Hemophagocytic Syndrome Associated With An Infection
Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... ORPHA:158048
Trichothiodystrophy
Osteopenia, Increased bone mineral density, Multiple joint contractures, Ventricular septal defec... ORPHA:33364
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hypoparathyroidism, Diabetes mellitus, Septate vagina, Uterus didelphys, Parathyroid hypoplasia, ... ORPHA:2237
Congenital Toxoplasmosis
Thrombocytopenia, Anemia ORPHA:858
Cholestasis, Progressive Familial Intrahepatic, 5
Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration OMIM:617049
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Elevated hepatic transaminase, Portal hypertension, Craniosynostosis, Cryptorchidism, Hypothyroid... OMIM:620005
Mandibuloacral Dysplasia
Hypertriglyceridemia, Dental crowding, Increased circulating free fatty acid level, Abnormal tong... ORPHA:2457
Orofaciodigital Syndrome Xv
Lobulated tongue, Hydronephrosis, Midline notch of upper alveolar ridge OMIM:617127
Immune Thrombocytopenia
Thrombocytopenia ORPHA:3002
Osteopetrosis, Autosomal Recessive 3
Cerebral calcification, Basal ganglia calcification, Cranial hyperostosis, Dental malocclusion, D... OMIM:259730
Orofaciodigital Syndrome Type 1
Reduced bone mineral density, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnorm... ORPHA:2750
Charcot-Marie-Tooth Disease, Axonal, Type 2S
Upper limb muscle weakness, Tongue atrophy, Lower limb muscle weakness, Foot dorsiflexor weakness OMIM:616155
Deafness-Lymphedema-Leukemia Syndrome
Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde... ORPHA:3226
Generalized Pustular Psoriasis
Elevated hepatic transaminase, Hyponatremia, Renal insufficiency, Elevated circulating C-reactive... ORPHA:247353
Down Syndrome
Joint laxity, Aganglionic megacolon, Protruding tongue, Abnormality of the dentition, Renal hypop... ORPHA:870
Aggressive Systemic Mastocytosis
Portal hypertension, Malabsorption, Osteoporosis, Osteolysis, Elevated circulating alkaline phosp... ORPHA:98850
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic h... OMIM:620285
Liver Failure, Infantile, Transient
Hypoalbuminemia, Hyperbilirubinemia OMIM:613070
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Isolated Biliary Atresia
Elevated hepatic transaminase, Hypopituitarism, Dark yellow urine, Atretic gallbladder, Conjugate... ORPHA:30391
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal metaphysis morphology, Osteopetrosis ORPHA:1522
Gamma-Heavy Chain Disease
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma... ORPHA:100026
Congenital Enterovirus Infection
Abnormal macrophage morphology, Thrombocytopenia, Leukocytosis, Hyperammonemia, Leukopenia, Hypoa... ORPHA:292
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Thin upper lip vermilion, Elevated circulating alkaline phosphatase concentration, Tented upper l... OMIM:615716
Timothy Syndrome
Hypothyroidism, Hypocalcemia, Cutaneous syndactyly OMIM:601005
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Hyperbilirubinemia OMIM:609734
Immunodeficiency, Common Variable, 12, With Autoimmunity
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:616576
X-Linked Agammaglobulinemia
Arthritis, Osteomyelitis, Short stature, Hypocalcemia ORPHA:47
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Hamartoma of tongue, Unicoronal synostosis, Cryptorchidism, Cleft lip, Patent ductus... OMIM:616300
Dyggve-Melchior-Clausen Disease
Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Tibial bowing, Narrow... OMIM:223800
Metatropic Dysplasia
Camptodactyly of finger, Abnormal enchondral ossification, Joint stiffness, Cleft palate, Abnorma... ORPHA:2635
Congenital Disorder Of Glycosylation, Type Iij
Elevated hepatic transaminase, Elevated circulating alkaline phosphatase concentration, Hepatic f... OMIM:613489
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Intestinal malrotation, Patent ductus arteriosus, Bilateral cleft lip and palate, Abnormal aortic... ORPHA:2001
Thiamine-Responsive Megaloblastic Anemia Syndrome
Thrombocytopenia, Megaloblastic anemia ORPHA:49827
Ck Syndrome
High palate, Abnormal cortical bone morphology, Dental crowding, Joint hypermobility OMIM:300831
Hypomandibular Faciocranial Dysostosis
Pursed lips, Patent ductus arteriosus, Aglossia, Atrial septal defect, Coronal craniosynostosis OMIM:241310
Eiken Syndrome
Abnormal trabecular bone morphology, Delayed epiphyseal ossification, Limited elbow flexion, Abno... ORPHA:79106
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Primary amenorrhea, Secondary am... OMIM:157640
Methylmalonic Acidemia With Homocystinuria Type Cblf
Hypomethioninemia, Unilateral renal agenesis, Intraventricular hemorrhage, Cleft palate, Abnormal... ORPHA:79284
Hypomandibular Faciocranial Dysostosis
Aplasia/Hypoplasia of the tongue, Craniosynostosis, Patent ductus arteriosus, Cleft palate, Narro... ORPHA:1790
Ghosal Hematodiaphyseal Dysplasia
Craniofacial hyperostosis, Abnormal cortical bone morphology ORPHA:1802
Bachmann-Bupp Syndrome
Hyperbilirubinemia OMIM:619075
Aicardi-Goutieres Syndrome 5
Thrombocytopenia OMIM:612952
Familial Thyroid Dyshormonogenesis
Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:95716
Lipoid Proteinosis
Cerebral calcification, Abnormal oral mucosa morphology, Abnormality of the gingiva, Thick lower ... ORPHA:530
Methylmalonic Aciduria, Cbla Type
Methylmalonic acidemia, Pancytopenia, Thrombocytopenia, Hyperammonemia, Hyperglycinemia, Neutrope... OMIM:251100
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,... OMIM:304790
Camurati-Engelmann Disease
Increased bone mineral density, Diaphyseal sclerosis, Genu valgum, Cortical thickening of long bo... OMIM:131300
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... OMIM:618021
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru... OMIM:617156
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Glossoptosis, Osteoarthritis, Cleft palate, Long philtrum ORPHA:166100
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency
Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia OMIM:613839
Developmental And Epileptic Encephalopathy 80
Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Protruding tongue,... OMIM:618580
Cleidocranial Dysplasia 1
Increased bone mineral density, Hypoplastic scapulae, Short stature, Aplastic clavicle, Short mid... OMIM:119600
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M... OMIM:235400
Eiken Syndrome
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... OMIM:600002
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency
Furrowed tongue OMIM:165150
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Hyperthyroidism, Thyrotoxicosis with toxic sing... ORPHA:79102
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Furrowed tongue ORPHA:2743
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Thin upper lip vermilion, Pierre-Robin sequence, Glossoptosis, High palate, Camptodactyly, Open m... OMIM:613604
Letterer-Siwe Disease
Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly OMIM:246400
Braddock-Carey Syndrome 2
Thrombocytopenia OMIM:619981
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Tufted Angioma
Anemia, Thrombocytopenia ORPHA:1063
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Subcortical white matter calcifications, Increased circulating ferritin concentration, Osteopetrosis ORPHA:3240
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Increased susceptibility to fractures, Elevated ci... OMIM:610968
Acrocallosal Syndrome
Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prominent palatine ridges, ... OMIM:200990
Au-Kline Syndrome
Supernumerary nipple, Sagittal craniosynostosis, Craniosynostosis, Cryptorchidism, Chronic kidney... OMIM:616580
Burning Mouth Syndrome
Abnormality of taste sensation, Parageusia, Abnormality of the gingiva, Strawberry tongue, Xerost... ORPHA:353253
Griscelli Syndrome
Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T... ORPHA:381
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp... ORPHA:331206
Thiamine-Responsive Megaloblastic Anemia Syndrome
Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia OMIM:249270
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Short mandibular rami, Tongue atrophy, Dental malocclusion OMIM:141300
Bruck Syndrome 2
Osteopenia, Short stature, Flexion contracture, Elbow flexion contracture, Knee flexion contractu... OMIM:609220
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology... ORPHA:861
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Patent ductus arteriosus, Joint hyperflexibility, Abnormal cardiac septum morphol... ORPHA:250989
Arthrogryposis Multiplex Congenita 5
Flexion contracture, Elbow flexion contracture, Camptodactyly, Arthrogryposis multiplex congenita... OMIM:618947
Car T Cell Therapy-Associated Cytokine Release Syndrome
Elevated circulating creatinine concentration, Hyperbilirubinemia ORPHA:542323
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis OMIM:608885
Hereditary Mucoepithelial Dysplasia
Tracheoesophageal fistula, Gingival overgrowth, Abnormality of the bladder, Furrowed tongue, Hema... ORPHA:1839
Immunodeficiency 10
Autoimmune hemolytic anemia, Thrombocytopenia OMIM:612783
Wild Type Attr Amyloidosis
Renal insufficiency, Proteinuria, Nephrotic syndrome, Elevated circulating alkaline phosphatase c... ORPHA:330001
Thrombotic Thrombocytopenic Purpura, Hereditary
Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ... OMIM:274150
Myeloproliferative Disease, Autosomal Recessive
Reduced leukocyte alkaline phosphatase OMIM:254700
Wilson Disease
Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Thrombocytopen... OMIM:277900
Meckel Syndrome, Type 1
External genital hypoplasia, Ambiguous genitalia, female, Lobulated tongue, Ambiguous genitalia, ... OMIM:249000
Primary Biliary Cholangitis
Abnormal circulating lipid concentration, Portal hypertension, Celiac disease, Conjugated hyperbi... ORPHA:186
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay
Nephrocalcinosis, Cardiomyopathy, Aminoaciduria OMIM:616084
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Hemolytic anemia, Reticulocytosis, Anisocytosis, Leukocytosis, Hepatosplenomegaly, Decreased mean... OMIM:618278
Contractures-Developmental Delay-Pierre Robin Syndrome
Hypospadias, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Atrial septa... ORPHA:436003
Glycosylphosphatidylinositol Biosynthesis Defect 25
Low alkaline phosphatase, Ankle flexion contracture OMIM:619985
Pallister-Hall-Like Syndrome
Median cleft lip, Cleft palate, Micropenis, Microglossia, Anterior hypopituitarism, Renal dysplasia OMIM:241800
Cerebrocostomandibular Syndrome
Anal stenosis, Ventricular septal defect, Cleft soft palate, Calcaneal epiphyseal stippling, Ecto... OMIM:117650
Abetalipoproteinemia
Decreased HDL cholesterol concentration, Reticulocytosis, Acanthocytosis, Decreased LDL cholester... ORPHA:14
Tularemia
Brain abscess, Leukocytosis, Anemia, Thrombocytopenia, Cutaneous abscess ORPHA:3392
Paroxysmal Nocturnal Hemoglobinuria
Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym... ORPHA:447
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Joint stiffness, Vasculitis, Hyperhidrosis, Hematuria, Arthrit... ORPHA:397
Orofaciodigital Syndrome Type 6
Renal agenesis, Hamartoma of tongue, Renal hypoplasia/aplasia, Bilateral cryptorchidism, Cleft pa... ORPHA:2754
Dengue Fever
Leukopenia, Hypoproteinemia, Thrombocytopenia ORPHA:99828
Hyperphosphatasia-Intellectual Disability Syndrome
Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, Anteriorly placed anus, ... ORPHA:247262
Pseudo-Torch Syndrome 3
Increased circulating ferritin concentration, Leukocytosis, Congenital thrombocytopenia, Anemia OMIM:618886
Neonatal Lupus Erythematosus
Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia ORPHA:398124
Parenteral Nutrition-Associated Cholestasis
Elevated hepatic transaminase, Villous atrophy, Portal hypertension, Biliary hyperplasia, Conjuga... ORPHA:567983
Caroli Disease
Portal hypertension, Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Elevated ... ORPHA:53035
Stt3B-Cdg
Thrombocytopenia ORPHA:370924
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormally ossified vertebrae, Restricted large joint movement, Carious teeth, Glossoptosis, Dela... ORPHA:93346
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Thrombocytopenia, Lymphopenia, Anemia OMIM:620365
Atypical Pantothenate Kinase-Associated Neurodegeneration
Tongue atrophy ORPHA:216873
Auriculocondylar Syndrome 1
Dental crowding, Ankylosis, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, Ant... OMIM:602483
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Tongue atrophy, Flexion contracture, Tongue fasciculations OMIM:614678
Grant Syndrome
Open bite, Decreased skull ossification, Joint hyperflexibility, Abnormal cortical bone morpholog... ORPHA:2097
Bent Bone Dysplasia Syndrome 2
Osteopenia, Ulnar deviation of the hand, Bowed humerus, Hypoplastic iliac wing, Short tibia, Ulna... OMIM:620076
Primary Intestinal Lymphangiectasia
Growth delay, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Hypoproteinemia ORPHA:90362
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Thin upper lip vermilion, Hypospadias, Bilateral cleft lip and palate, Mitral valve prolapse, Hig... OMIM:618874
Tarp Syndrome
Meckel diverticulum, Subdural hemorrhage, Cleft palate, Tongue nodules, Horseshoe kidney, Glossop... OMIM:311900
Gm1-Gangliosidosis, Type Ii
Protruding tongue, Joint stiffness, Patent ductus arteriosus, Gingival overgrowth, Decreased beta... OMIM:230600
Congenital Disorder Of Glycosylation, Type Ix
Thrombocytopenia OMIM:615597
Familial Hemophagocytic Lymphohistiocytosis
Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegal... ORPHA:540
Intrahepatic Cholestasis Of Pregnancy
Increased serum bile acid concentration, Hyperbilirubinemia ORPHA:69665
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Joint stiffness, Renal hypoplasi... ORPHA:2167
Spastic Paraplegia 29, Autosomal Dominant
Neonatal hyperbilirubinemia OMIM:609727
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Dental crowding, Renal cyst, Hypoalbuminemia, Hypocholesterolemia, ... OMIM:270400
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1
Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia OMIM:605432
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Pyruvate Carboxylase Deficiency
Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H... ORPHA:3008
Systemic Mastocytosis With Associated Hematologic Neoplasm
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... ORPHA:98849
Seckel Syndrome 2
Microdontia, Microglossia, Hypospadias, Ectopic kidney OMIM:606744
Orofaciodigital Syndrome I
Median cleft lip, Proteinuria, Hamartoma of tongue, Cleft upper lip, Pancreatic cysts, Carious te... OMIM:311200
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Hypospadias, Ventricular septal defect, Cleft palate, Furrowed tongue... OMIM:616449
Fructose Intolerance, Hereditary
Elevated hepatic transaminase, Transient aminoaciduria, Hyperphosphaturia, Jaundice, Bicarbonatur... OMIM:229600
Stormorken Syndrome
Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Thrombocytopen... OMIM:185070
Deafness-Craniofacial Syndrome
Short lingual frenulum, Abnormality of the dentition, Patent ductus arteriosus, Short philtrum, B... ORPHA:3241
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Elevated circulating aspartate aminotransferase conc... OMIM:608779
Cranioectodermal Dysplasia 1
Joint laxity, Broad toe, Brachydactyly, Short humerus, Rhizomelia, Sagittal craniosynostosis, Bro... OMIM:218330
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Ventricular septal defect, Hypospadias, Renal agenesis, Protruding ... OMIM:301040
Cowden Syndrome 5
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615108
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co... OMIM:608836
Cowden Syndrome 6
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:615109
Sengers Syndrome
Thrombocytopenia OMIM:212350
Tarp Syndrome
Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Tongue nodules, H... ORPHA:2886
Specific Granule Deficiency 1
Low neutrophil alkaline phosphatase OMIM:245480
Velocardiofacial Syndrome
Hypoparathyroidism, Cryptorchidism, Short stature, Hypocalcemia OMIM:192430
Congenital Disorder Of Glycosylation, Type Iiw
Elevated hepatic transaminase, Membranoproliferative glomerulonephritis, Ventricular septal defec... OMIM:619525
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Scapular winging, Distal lower limb... ORPHA:101085
Fetal Gaucher Disease
Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia ORPHA:85212
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Neonatal hyperbilirubinemia ORPHA:73272
Mandibulofacial Dysostosis With Alopecia
Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Cleft pal... OMIM:616367
Congenital Disorder Of Glycosylation, Type Ih
Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia OMIM:608104
Plummer-Vinson Syndrome
Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Esophageal web, Narrow mouth, Decreased ... ORPHA:54028
Charcot-Marie-Tooth Disease, Type 4C
Tongue atrophy, Facial palsy, Upper limb muscle weakness, Distal amyotrophy, Tongue fasciculations OMIM:601596
Congenital Rubella Syndrome
Splenomegaly, Thrombocytopenia, Anemia ORPHA:290
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Growth delay, Intrauterine growth retardation, Short stature, Osteopetrosis OMIM:618541
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Exaggerated cupid's bow, High... ORPHA:464738
Congenital Erythropoietic Porphyria
Hemolytic anemia, Reticulocytosis, Anisocytosis, Abnormal circulating porphyrin concentration, Sp... ORPHA:79277
Thrombocytopenia 6
Thrombocytopenia OMIM:616937
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Congenital diaphragmatic hernia, Atrial septal defect, Advanced eruption of ... ORPHA:818
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Hypoplasia of the ulna, Short stature, Metaphyseal spurs, Postaxial polydactyly, Metaphyseal wide... OMIM:613091
Diffuse Alveolar Hemorrhage
Thrombocytopenia, Leukocytosis, Elevated circulating creatinine concentration, Anemia ORPHA:90060
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis
Bifid scrotum, Fused labia majora, Decreased circulating cortisol level, Small scrotum, Femoral b... OMIM:201750
Auriculocondylar Syndrome
Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental malocclusion, Cleft pala... ORPHA:137888
Cyclic Neutropenia
Cyclic neutropenia, Perianal abscess, Decreased eosinophil count, Lymphopenia, Tooth abscess, Thr... ORPHA:2686
Acquired Purpura Fulminans
Thrombocytopenia, Elevated circulating C-reactive protein concentration ORPHA:49566
Estrogen Resistance
Osteopenia, Elevated alkaline phosphatase of bone origin, Primary amenorrhea, Polycystic ovaries,... OMIM:615363
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Intestinal obstruction, Abnormal pericardium morphology, Elevated ... ORPHA:67
Mirizzi Syndrome
Elevated hepatic transaminase, Dark urine, Pancreatitis, Jaundice, Elevated circulating alkaline ... ORPHA:521219
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia ORPHA:79242
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating creatine kinase concentration, Increased circulating free fatty acid level, ... ORPHA:26793
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Pathologic fracture, Abnormal cortical bone morphology, Limitation of joint mobility, Dentinogene... ORPHA:166277
Double Outlet Right Ventricle
Hypoparathyroidism, Aplasia/Hypoplasia of the thymus, Short stature, Hypocalcemia ORPHA:3426
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked
Thrombocytopenia, Increased mean platelet volume OMIM:300048
Von Willebrand Disease, Type 3
Impaired platelet aggregation, Thrombocytopenia OMIM:277480
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Osteopenia, Urethral stricture, Flexion contracture, Urinary bladder sphincter dysfunction, Oral ... ORPHA:79408
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Downturned corners of mouth, Lobulated tongue, Thin upper lip vermilion, Short philtrum OMIM:613443
Hereditary Folate Malabsorption
Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia ORPHA:90045
Sotos Syndrome
Joint laxity, Hip contracture, Hypospadias, Hypercalcemia, Ankle flexion contracture, Craniosynos... ORPHA:821
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... OMIM:612541
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small scrotum, Short stature, Rickets, Reduced bone mineral density, Gr... OMIM:613658
Cohen Syndrome
Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent... ORPHA:193
Portal Hypertension, Noncirrhotic, 2
Splenomegaly, Thrombocytopenia OMIM:619463
Acyl-Coa Dehydrogenase 9 Deficiency
Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine... ORPHA:99901
Autosomal Dominant Polycystic Kidney Disease
Pancreatic cysts, Pituitary growth hormone cell adenoma, Reduced sperm motility ORPHA:730
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Ambiguous genitalia, Bowing of the long bones, Short stature,... ORPHA:140
Roberts Syndrome
Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Knee flexion contracture, Clinodact... ORPHA:3103
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hyponatremia, Leukocytosis, Thrombocytopenia ORPHA:83601
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Prominent scalp veins, Hypospadias, Anteri... OMIM:151050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Knee flexion contracture, Femoral bowing, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Chediak-Higashi Syndrome
Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni... OMIM:214500
Catel-Manzke Syndrome
Joint laxity, Overriding aorta, Ventricular septal defect, Dextrocardia, Cleft upper lip, Cryptor... OMIM:616145
Ciliary Dyskinesia, Primary, 1
Male infertility, Absent outer dynein arms OMIM:244400
Pituitary Hormone Deficiency, Combined, 6
Hyperbilirubinemia OMIM:613986
Distal Xq28 Microduplication Syndrome
Neonatal hyperbilirubinemia ORPHA:293939
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Osteolytic defects of the phalanges of the ... ORPHA:2484
Acquired Hypertrichosis Lanuginosa
Macroglossia, Glossitis, Ovarian neoplasm ORPHA:2221
Fructose-1,6-Bisphosphatase Deficiency
Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia ORPHA:348
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Methylmalonic acidemia, Hypomethioninemia, Glomerulopathy, Ketonuria, Renal insufficiency, Hemoly... ORPHA:79282
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Thrombocytopenia OMIM:616577
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Thin upper lip vermilion, Diastasis recti, Renal cortical cysts, Downturned corners of mouth, Ele... OMIM:618548
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency
Thrombocytopenia, Anemia, Neutropenia OMIM:614520
Acute Promyelocytic Leukemia
Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia ORPHA:520
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Thrombocytopenia, Hyperbilirubinemia ORPHA:464321
Cowden Syndrome 1
Colonic diverticula, Hyperthyroidism, Thyroiditis, Furrowed tongue, Hydrocele testis, Ovarian cys... OMIM:158350
Fumarase Deficiency
Polycythemia, Hyperbilirubinemia OMIM:606812
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Femur fracture, Growth delay, Osteopetrosis, Hypocalcemic se... OMIM:612301
Avian Influenza
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... ORPHA:454836
Osteogenesis Imperfecta, Type Viii
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... OMIM:610915
Thrombocytopenia 1
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia OMIM:313900
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Osteomyelitis, Hyperthyroidism, Abnormality of the endocrine system, Abnormal blood ion concentra... ORPHA:37042
Hermansky-Pudlak Syndrome 5
Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia OMIM:614074
Coccidioidomycosis
Abnormality of the male genitalia, Abnormal sperm morphology, Abnormality of the female genitalia... ORPHA:228123
Peroxisome Biogenesis Disorder 13A (Zellweger)
Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration OMIM:614887
Moebius Syndrome
Skeletal muscle atrophy, Hypogonadotropic hypogonadism, Aplasia/Hypoplasia of the tongue, Facial ... ORPHA:570
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Osteoarthritis, Reduced bone mineral density, Intracrani... ORPHA:740
Hereditary Cryohydrocytosis With Reduced Stomatin
Conjugated hyperbilirubinemia, Spontaneous hemolytic crises, Stomatocytosis, Hepatosplenomegaly ORPHA:168577
Distal Deletion 12Q
Ectopic kidney, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent foramen ovale, Eso... ORPHA:96149
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Stage 5 chronic kidney di... ORPHA:2752
Autoimmune Hepatitis
Splenomegaly, Increased total bilirubin ORPHA:2137
Orofaciodigital Syndrome Vi
Renal agenesis, Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Cleft palate, Coar... OMIM:277170
Necrotizing Enterocolitis
Hyponatremia, Leukocytosis, Thrombocytopenia, Neutropenia ORPHA:391673
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Bowed humerus, Micromelia, Ulnar bow... OMIM:211350
Vexas Syndrome
Thrombocytopenia, Macrocytic anemia, Elevated circulating C-reactive protein concentration OMIM:301054
Schinzel-Giedion Midface Retraction Syndrome
Small scrotum, Increased density of long bones, Hypospadias, Postnatal growth retardation, Wide d... OMIM:269150
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Tongue atrophy, Tongue fasciculations OMIM:613435
Hallermann-Streiff Syndrome
Natal tooth, Recurrent fractures, Abnormality of the dentition, Cryptorchidism, Supernumerary too... ORPHA:2108
Dyskeratosis Congenita, Autosomal Dominant 2
Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia OMIM:613989
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Esophageal stenosis, Anal fissure, Abnormal circulating selenium concent... ORPHA:89842
Primary Sclerosing Cholangitis
Acute hepatic failure, Elevated hepatic transaminase, Osteopenia, Renal insufficiency, Portal hyp... ORPHA:171
Bacterial Toxic-Shock Syndrome
Osteomyelitis, Elevated circulating creatine kinase concentration, Elevated circulating creatinin... ORPHA:36234
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Hypocalcemia, Equinus calcaneus ORPHA:746
Degcags Syndrome
Osteopenia, Bilateral renal hypoplasia, High palate, Atrial septal defect, Diaphragmatic eventrat... OMIM:619488
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni... OMIM:277400
Snakebite Envenomation
Hyponatremia, Thrombocytopenia ORPHA:449285
Gaucher Disease, Type I
Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia OMIM:230800
Boutonneuse Fever
Leukopenia, Thrombocytopenia ORPHA:83313
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Small scrotum, Femoral bowing, Anteriorly displaced genitalia, Foot oligodactyly, Aplasia/Hypopla... OMIM:276820
Felty Syndrome
Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia ORPHA:47612
Marshall-Smith Syndrome
Eclabion, Irregular dentition, Decreased hip abduction, Ventricular septal defect, Short mandibul... OMIM:602535
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia OMIM:616433
Marshall-Smith Syndrome
Craniosynostosis, Protruding tongue, Gingival overgrowth, Reduced bone mineral density, Increased... ORPHA:561
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Anal stenosis, Tented upper lip vermilion, Aganglionic megacolon, Cleft palate, Wide mouth, Eleva... OMIM:614207
Stüve-Wiedemann Syndrome
Osteopenia, Flexion contracture of finger, Recurrent fractures, Camptodactyly of finger, Abnormal... ORPHA:3206
Acro-Renal-Mandibular Syndrome
Aplasia/Hypoplasia of the tongue, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Uter... ORPHA:958
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Orofacial cleft, Downturned corners of mouth, Clitoral h... OMIM:180700
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Glossoptosis, Hyperextensibility of the finger joints, Cleft palate OMIM:618356
Shwachman-Diamond Syndrome
Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane... ORPHA:811
Sclerosteosis 1
Facial palsy, Sclerotic scapulae, Irregular menstruation, Dental malocclusion, Facial palsy secon... OMIM:269500
Solar Urticaria
Abnormal lip morphology, Abnormal tongue morphology ORPHA:97230
Mirage Syndrome
Hyponatremia, Thrombocytopenia, Hyperkalemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Anemia OMIM:617053
Psoriasis 14, Pustular
Oligoarthritis, Geographic tongue, Elevated circulating C-reactive protein concentration, Furrowe... OMIM:614204
Proteasome-Associated Autoinflammatory Syndrome 3
Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia OMIM:617591
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
Camptodactyly of finger, High, narrow palate, Submucous cleft hard palate, Glossoptosis, Hypodontia ORPHA:3201
Immunodeficiency, Common Variable, 8, With Autoimmunity
Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple... OMIM:614700
Mevalonic Aciduria
Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu... OMIM:610377
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Ventricular septal defect, Hypospadias, Cryptorchidism, Cleft lip, Patent ductus arteriosus, Rena... OMIM:616975
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Syndactyly, Pancreatic fibrosis, Short stature, Postaxial polydactyly, Preaxial polydactyly, Femo... OMIM:615503
Chédiak-Higashi Syndrome
Hyponatremia, Abnormal leukocyte morphology, Pancytopenia, Hypertriglyceridemia, Increased circul... ORPHA:167
Congenital Disorder Of Glycosylation, Type Iia
Osteopenia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingival overgro... OMIM:212066
Cleidocranial Dysplasia
Delayed eruption of teeth, Abnormal dental enamel morphology, Recurrent fractures, Abnormality of... ORPHA:1452
Overlap Myositis
Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen... ORPHA:206572
Yunis-Varon Syndrome
Cardiomegaly, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Short philtrum, ... ORPHA:3472
Mitchell-Riley Syndrome
Hyperbilirubinemia OMIM:615710
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal cortical bone morphology, Limitation of joint mobility, Recurre... ORPHA:1486
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... ORPHA:79124
Cronkhite-Canada Syndrome
Intestinal polyposis, Malabsorption, Hypogeusia, Furrowed tongue, Hamartomatous polyposis, Colon ... ORPHA:2930
Acute Radiation Syndrome
Lymphopenia, Granulocytopenia, Thrombocytopenia ORPHA:454831
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Facial hypotonia, Protruding tongue, Submucous cleft hard palate, Wide mouth, Hi... OMIM:618106
Lowe Oculocerebrorenal Syndrome
Short stature, Camptodactyly of finger, Osteomalacia, Hypercholesterolemia, Postnatal growth reta... OMIM:309000
Lissencephaly Due To Lis1 Mutation
Neonatal hyperbilirubinemia ORPHA:95232
Orofaciodigital Syndrome Xix
Cleft soft palate, Accessory oral frenulum, Carious teeth, Narrow palate, Downturned corners of m... OMIM:620107
Alg8-Cdg
Hyponatremia, Thrombocytopenia, Anemia ORPHA:79325
Autosomal Dominant Robinow Syndrome
Hypoplasia of penis, Epispadias, Abnormality of the gingiva, High, narrow palate, Downturned corn... ORPHA:3107
Cholera
Hyponatremia, Hypocalcemia, Hypokalemia, Abnormal blood ion concentration ORPHA:173
Schimke Immuno-Osseous Dysplasia
Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ... ORPHA:1830
Boudin-Mortier Syndrome
Joint laxity, Aortic root aneurysm, Elevated alkaline phosphatase of bone origin, Mitral valve pr... OMIM:619543
Gitelman Syndrome
Neoplasm of the pancreas, Maternal diabetes, Hashimoto thyroiditis, Hypomagnesemia, Hypermagnesem... ORPHA:358
Hermansky-Pudlak Syndrome 2
Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate... OMIM:608233
Hereditary Acrokeratotic Poikiloderma
Camptodactyly of finger, Premature loss of primary teeth, Abnormal preputium morphology, Open bit... ORPHA:2907
Transaldolase Deficiency
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:606003
Yellow Fever
Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat... ORPHA:99829
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... OMIM:269860
Melkersson-Rosenthal Syndrome
Facial palsy, Cheilitis, Oligosacchariduria, Furrowed tongue, Macroglossia ORPHA:2483
Gallbladder Disease 1
Elevated hepatic transaminase, Jaundice, Elevated circulating alkaline phosphatase concentration,... OMIM:600803
Juvenile Sialidosis Type 2
Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Abnormal heart morphology, Che... ORPHA:93399
Blue Rubber Bleb Nevus
Iron deficiency anemia, Thrombocytopenia OMIM:112200
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia ORPHA:508542
Agnathia-Otocephaly Complex
Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narrow mouth, Trac... OMIM:202650
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:618775
Hypoglossia With Situs Inversus
Situs inversus totalis, High palate, Hypodontia, Narrow mouth, Microglossia OMIM:612776
Stuve-Wiedemann Syndrome 1
Pursed lips, Carious teeth, Osteoporosis, Pathologic fracture, Elbow flexion contracture, Knee fl... OMIM:601559
Fanconi Anemia, Complementation Group E
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:600901
Lysinuric Protein Intolerance
Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole... ORPHA:470
Ring Chromosome 22 Syndrome
Azoospermia, Thick vermilion border, Protruding tongue ORPHA:1446
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Osteoarthritis, Limitation of joint mobility, Cleft palate, Glosso... ORPHA:1427
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Joint hyperflexibility, Abnormal lip morphology, Abnormality of the philtrum, Aplasia/Hypoplasia ... ORPHA:2759
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Tongue atrophy, Flexion co... ORPHA:466768
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Decreased response to growth hormone stimula... ORPHA:444077
Schimke Immunoosseous Dysplasia
Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia OMIM:242900
Fontaine Progeroid Syndrome
Small scrotum, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdominal wall muscu... OMIM:612289
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Velopha... ORPHA:2751
Mucopolysaccharidosis-Plus Syndrome
Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytopenia OMIM:617303
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short metatarsal, Femoral bowing, Tibial bowing, S... OMIM:304120
Orofaciodigital Syndrome Xiv
Natal tooth, Ventricular septal defect, Hamartoma of tongue, Epispadias, Cryptorchidism, Supernum... OMIM:615948
Immunodeficiency 22
Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Abscess, Anemia OMIM:615758
Oculodentodigital Dysplasia
Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal dental enamel morpholog... ORPHA:2710
Isotretinoin-Like Syndrome
Postnatal growth retardation, Intrauterine growth retardation, Hypocalcemia ORPHA:2306
Kasabach-Merritt Syndrome
Reticulocytosis, Thrombocytopenia, Leukopenia, Microangiopathic hemolytic anemia, Neutropenia, An... ORPHA:2330
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Thrombocytopenia OMIM:617710
Microsporidiosis
Glossitis, Myositis, Osteomyelitis, Myocarditis, Abnormality of the parathyroid gland, Urethritis... ORPHA:2552
Braddock-Carey Syndrome 1
Thrombocytopenia OMIM:619980
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Jaundice, Vas... ORPHA:2331
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Hypospadias, Short stature, Arachnodactyly, Cryptorchidism, ... ORPHA:567
Dyskeratosis Congenita, Autosomal Dominant 1
Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop... OMIM:127550
X-Linked Intellectual Disability, Snyder Type
Cryptorchidism, Hypospadias, Abnormality of the Leydig cells, Testicular atrophy ORPHA:3063
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Elevated hepatic transaminase, Hypertyrosinemia, Ragged-red muscle fibers, Rhabdomyolysis, Lactic... OMIM:124000
Lysinuric Protein Intolerance
Hypolysinemia, Increased circulating ferritin concentration, Thrombocytopenia, Splenomegaly, Hype... OMIM:222700
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Dental crowding, Narrow palate, Vertebral fusion ORPHA:313892
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia OMIM:301056
Distal 22Q11.2 Microdeletion Syndrome
Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defect, Camptoda... ORPHA:261330
Prolidase Deficiency
Splenomegaly, Thrombocytopenia, Anemia OMIM:170100
Liver Disease, Severe Congenital
Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti... OMIM:619991
Hypothyroidism Due To Tsh Receptor Mutations
Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90673
Holocarboxylase Synthetase Deficiency
Thrombocytopenia, Hyperammonemia OMIM:253270
Combined Oxidative Phosphorylation Deficiency 14
Thrombocytopenia, Anemia, Elevated hepatic iron concentration OMIM:614946
Pallister-Hall Syndrome
Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove... ORPHA:672
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Hoyeraal-Hreidarsson Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:3322
Down Syndrome
Joint laxity, Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrio... OMIM:190685
Poirier-Bienvenu Neurodevelopmental Syndrome
Downturned corners of mouth, Open mouth, Smooth philtrum, Protruding tongue OMIM:618732
Dyskeratosis Congenita, Autosomal Dominant 3
Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:613990
Spondyloepiphyseal Dysplasia Congenita
Abnormally ossified vertebrae, Limited elbow movement, Osteoporosis, Cleft palate, Reduced bone m... ORPHA:94068
Zika Virus Disease
Thrombocytopenia ORPHA:448237
Lig4 Syndrome
Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia OMIM:606593
Leukocyte Adhesion Deficiency, Type Iii
Osteopetrosis OMIM:612840
Ebola Hemorrhagic Fever
Leukopenia, Lymphopenia, Thrombocytopenia ORPHA:319218
Cranio-Osteoarthropathy
Arthritis, Osteoarthritis, Abnormal cortical bone morphology, Joint stiffness ORPHA:1525
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Flexion contracture, Macr... ORPHA:258
Bone Marrow Failure Syndrome 3
Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi... OMIM:617052
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Renal cyst, Atrial septal defect, Exaggerated median tongue furr... OMIM:312870
Bazex-Dupre-Christol Syndrome
Hypohidrosis, Joint hypermobility, Furrowed tongue OMIM:301845
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Granuloma, Hyperbilirubinemia ORPHA:562639
Hartnup Disease
Abnormal urinary color, Malabsorption, Gingivitis, Glossitis, Neutral hyperaminoaciduria ORPHA:2116
Combined Immunodeficiency Due To Crac Channel Dysfunction
Splenomegaly, Hemolytic anemia, Thrombocytopenia ORPHA:169090
Ogden Syndrome
Thrombocytopenia, Iron deficiency anemia, Polycythemia, Hyperbilirubinemia OMIM:300855
Intellectual Developmental Disorder, Autosomal Dominant 29
Thin upper lip vermilion, Dental crowding, Cryptorchidism, Narrow palate, Thick vermilion border,... OMIM:616078
Congenital Sialidosis Type 2
Abnormality of the kidney, Protruding tongue, Gingival overgrowth, Abnormal heart morphology, Che... ORPHA:93400
Kinsship Syndrome
Osteopenia, Thin upper lip vermilion, Thick lower lip vermilion, Gingival overgrowth, Renal hypop... OMIM:619297
Viss Syndrome
Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, High, narrow palate, Generali... OMIM:619472
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Microglossia, Cleft palate, Ambiguous genitalia, Thick anterior alveolar... ORPHA:2839
Wilson Disease
Splenomegaly, Thrombocytopenia, Anemia ORPHA:905
Sepsis In Premature Infants
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytosis, Splenomega... ORPHA:90051
Meckel Syndrome
Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Ap... ORPHA:564
Smith-Kingsmore Syndrome
Thrombocytopenia OMIM:616638
Hennekam Syndrome
Finger syndactyly, Mild postnatal growth retardation, Camptodactyly of finger, Craniosynostosis, ... ORPHA:2136
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Abnormality of the kidney, Enlarged polycystic ... ORPHA:201
Maternal Uniparental Disomy Of Chromosome 6
Thrombocytopenia ORPHA:96181
Orofaciodigital Syndrome Type 14
Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Bilateral cryptorchidism... ORPHA:434179
Orofaciodigital Syndrome Iv
Hamartoma of tongue, Accessory oral frenulum, Cleft palate, Lobulated tongue, High palate, Tongue... OMIM:258860
Alström Syndrome
Abnormality of dental color, Decreased response to growth hormone stimulation test, Urinary incon... ORPHA:64
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect, Cleft palate, Gl... ORPHA:1393
X-Linked Intellectual Disability, Nascimento Type
Recurrent cutaneous abscess formation, Neonatal hyperbilirubinemia, Neutropenia ORPHA:163956
Pediatric Systemic Lupus Erythematosus
Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:93552
Isolated Thyroid-Stimulating Hormone Deficiency
Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia ORPHA:90674
Auriculocondylar Syndrome 3
Glossoptosis, Bifid uvula OMIM:615706
9q subtelomeric deletion syndrome
Protruding tongue, Abnormal heart morphology DECIPHER:52
Microcephaly 26, Primary, Autosomal Dominant
Protruding tongue, Gingival overgrowth, Long philtrum, Patent foramen ovale, Hydronephrosis OMIM:619179
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Tracheomalacia, Protruding tongue, Gingival overgrowth, Wide mouth, Vesicoureteral reflux OMIM:618797
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Cryptorchidism, Esophageal atresia,... ORPHA:93271
Mitochondrial Complex I Deficiency, Nuclear Type 20
Thrombocytopenia OMIM:611126
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Situs inversus totalis, Hypoplasia of penis, Microglossia, Narrow mouth ORPHA:990
Hardikar Syndrome
Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia OMIM:301068
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia
Thrombocytopenia, Lymphocytosis, Elevated circulating C-reactive protein concentration, Decreased... OMIM:617718
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations OMIM:614153
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Eclabion, Thin upper lip vermilion, Cleft soft palate, Joint hypermobility, Precocious puberty, H... OMIM:619950
Pediatric-Onset Graves Disease
Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Thrombocytopenia ORPHA:525731
Osteogenesis Imperfecta
Osteopenia, Abnormality of dental color, Osteoarthritis, Flexion contracture, Hyperhidrosis, Decr... ORPHA:666
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Cariou... OMIM:620186
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Glossoptosis, Multicystic kidney dysplasia, Renal cyst ORPHA:2031
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Tongue atrophy, Tongue fasciculations ORPHA:276198
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence OMIM:192445
Immunodeficiency With Hyper-Igm, Type 1
Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia OMIM:308230
Dyskeratosis Congenita, Autosomal Recessive 1
Pancytopenia, Aplastic anemia, Thrombocytopenia OMIM:224230
Good Syndrome
Abnormal leukocyte morphology, Thrombocytopenia, Anemia ORPHA:169105
Fanconi Anemia, Complementation Group C
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227645
3-Methylglutaconic Aciduria, Type Viib
Leukopenia, Thrombocytopenia, Neutropenia OMIM:616271
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Duplicated collecting system, Abnormal morphology of the great ves... ORPHA:488642
Cousin Syndrome
Ambiguous genitalia, female, Humeroradial synostosis, Alveolar ridge overgrowth, Cleft palate, Am... OMIM:260660
Agel Amyloidosis
Tongue atrophy, Proteinuria, Facial palsy, Xerostomia, Stage 5 chronic kidney disease, Cardiomyop... ORPHA:85448
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Hand muscle weakness, Weakness of facial... ORPHA:99956
Ramos-Arroyo Syndrome
Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia, Smooth tongue, Narrow... ORPHA:1051
Ivic Syndrome
Leukocytosis, Thrombocytopenia ORPHA:2307
Diamond-Blackfan Anemia
Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten... ORPHA:124
Pseudo-Torch Syndrome 2
Thrombocytopenia OMIM:617397
Johanson-Blizzard Syndrome
Joint laxity, Diabetes mellitus, Hypospadias, Short stature, Septate vagina, Urethrovaginal fistu... OMIM:243800
Pseudo-Torch Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:251290
Chilton-Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Recurrent urinary tract infections, Crossed fused renal ectopia, Hyposp... OMIM:619841
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Small scrotum, Tented upper lip vermilion, Widely-spaced maxillary central incisors, High palate,... OMIM:309580
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Facial palsy, Tongue fasciculations OMIM:211530
Fraser Syndrome
Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, High pala... ORPHA:2052
Cranioectodermal Dysplasia 2
Splenomegaly, Polysplenia, Hyperbilirubinemia OMIM:613610
Tangier Disease
Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia ORPHA:31150
Orofaciodigital Syndrome Iii
Supernumerary tooth, Tongue nodules, Microdontia, Bifid tongue, Bifid uvula OMIM:258850
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Normochromic anemia, Hypoalbuminemia, Thrombocytopenia OMIM:254900
Ulbright-Hodes Syndrome
Abnormal penis morphology, Short humerus, Short metacarpal, Abnormal external genitalia, Enlarged... ORPHA:3404
Shigellosis
Hyponatremia, Abscess, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic... ORPHA:810
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Cleft palate, Tongue nodules, Lobulated tongue, High p... OMIM:252100
Wiskott-Aldrich Syndrome
Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le... ORPHA:906
Okamoto Syndrome
Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper... ORPHA:2729
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Intrahepatic cholestasis with episodic jaundice, Elevated circulat... ORPHA:100085
Immunodeficiency 47
Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le... OMIM:300972
Lelis Syndrome
Carious teeth, Hypohidrosis, Hypodontia, Furrowed tongue ORPHA:140936
Shwachman-Diamond Syndrome 2
Normocytic anemia, Thrombocytopenia, Neutropenia OMIM:617941
Chand Syndrome
Hydroureter, Cleft palate, Agenesis of permanent teeth, Hypohidrosis, Abnormal oral frenulum morp... ORPHA:1401
Aspartylglucosaminuria
Aspartylglucosaminuria, Abnormality of the dentition, Carious teeth, Malabsorption, Joint stiffne... ORPHA:93
Lujo Hemorrhagic Fever
Elevated circulating C-reactive protein concentration, Leukocytosis, Leukopenia, Lymphopenia, Thr... ORPHA:319213
Noonan Syndrome 1
Male infertility, Ventricular septal defect, Hypospadias, Cryptorchidism, High, narrow palate, Pa... OMIM:163950
Hypothyroidism, Congenital, Nongoitrous, 2
Increased circulating thyroglobulin level, Hyperbilirubinemia OMIM:218700
Castleman Disease
Anemia, Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive prot... ORPHA:160
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Distal lower limb amyotrophy, Craniosynostosis, Oral mucosal blisters, Smooth tongue, Hypoalbumin... ORPHA:79396
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
High nonceruloplasmin-bound serum copper, Thrombocytopenia ORPHA:457351
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hyperextensibility of the finger joints, Internally rotated shoulders, Decreased response to grow... OMIM:619503
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ambiguous genitalia, Median cleft lip, Ventricular septal defect, Pancreatic fibrosis, Hamartoma ... OMIM:263520
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Hyperbilirubinemia OMIM:619475
Adams-Oliver Syndrome
Leukopenia, Thrombocytopenia ORPHA:974
Aicardi-Goutieres Syndrome 1
Splenomegaly, Thrombocytopenia OMIM:225750
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Elbow flexion contracture, Knee flexion contracture, Furrowed tongue, Hypohidrosis, Microdontia, ... OMIM:148210
Recon Progeroid Syndrome
Thrombocytopenia, Anemia OMIM:620370
Catastrophic Antiphospholipid Syndrome
Coombs-positive hemolytic anemia, Microangiopathic hemolytic anemia, Thrombocytopenia ORPHA:464343
Pachydermoperiostosis
Osteomyelitis, Peptic ulcer, Elevated circulating growth hormone concentration, Malabsorption, Li... ORPHA:2796
Ethylene Glycol Poisoning
Hyperkalemia, Hypocalcemia ORPHA:31826
Fanconi Anemia, Complementation Group B
Aplastic anemia, Thrombocytopenia OMIM:300514
Noonan Syndrome 4
Thrombocytopenia OMIM:610733
Steinert Myotonic Dystrophy
Endometrial carcinoma, Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to g... ORPHA:273
Fanconi Anemia, Complementation Group F
Leukopenia, Thrombocytopenia, Anemia OMIM:603467
Digeorge Syndrome
Parathyroid agenesis, Short stature, Decreased circulating parathyroid hormone level, Parathyroid... OMIM:188400
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Infection-Related Hemolytic Uremic Syndrome
Hyponatremia, Diabetes mellitus, Hyperkalemia, Hypocalcemia, Septic arthritis ORPHA:544482
Fetal And Neonatal Alloimmune Thrombocytopenia
Neonatal alloimmune thrombocytopenia ORPHA:853
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera... OMIM:608670
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cleft upper lip, Open bite, Osteoarth... ORPHA:828
Diamond-Blackfan Anemia 21
Erythroid hypoplasia, Thrombocytopenia, Anemia OMIM:620072
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Joint hypermobility, Protruding tongue, Everted lower lip vermilion, High palate, Open mouth, Smo... OMIM:617804
Angelman Syndrome
Wide mouth, Macroglossia, Widely spaced teeth, Protruding tongue OMIM:105830
Gaucher Disease, Perinatal Lethal
Splenomegaly, Thrombocytopenia, Anemia, Hepatosplenomegaly OMIM:608013
Alg12-Cdg
Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia ORPHA:79324
Frontorhiny
Hypopituitarism, Bifid tongue, Camptodactyly of finger, Cleft palate ORPHA:391474
16Q24.3 Microdeletion Syndrome
Increased mean corpuscular volume, Thrombocytopenia ORPHA:261250
Hellp Syndrome
Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic... ORPHA:244242
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Malabsorption, Protruding tongue OMIM:242860
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Glossoptosis, Cleft palate ORPHA:440354
Takenouchi-Kosaki Syndrome
Thrombocytopenia, Increased mean platelet volume OMIM:616737
Familial Osteodysplasia, Anderson Type
Recurrent fractures, Carious teeth, Increased susceptibility to fractures, Hyperuricemia, Failure... ORPHA:2769
Faciocardiomelic Dysplasia, Lethal
Microglossia, Narrow mouth OMIM:227270
Ectodermal Dysplasia-Skin Fragility Syndrome
Urethral stricture, Chapped lip, Abnormal dental morphology, Abnormality of the dentition, Cariou... ORPHA:158668
Mucoepithelial Dysplasia, Hereditary
Hematuria, Erythematous oral mucosa, Cor pulmonale, Furrowed tongue OMIM:158310
Insulin-Resistance Syndrome Type B
Abnormal circulating fatty-acid concentration, Leukopenia, Hypotriglyceridemia, Hypoalbuminemia, ... ORPHA:2298
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Conjugated hyperbilirubinemia OMIM:208500
Fanconi Anemia, Complementation Group D2
Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia OMIM:227646
Immunodeficiency 87 And Autoimmunity
Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Hypertriglyceridemia... OMIM:619573
Joubert Syndrome 1
Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy OMIM:213300
Farber Disease
Thrombocytopenia, Anemia, Hepatosplenomegaly ORPHA:333
Kaposiform Lymphangiomatosis
Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia ORPHA:464329
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Pierre-Robin sequence... ORPHA:364577
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Joint laxity, Small scrotum, Sandal gap, Long fingers, Cutaneous syndactyly, Hypocalcemia, Toe cl... OMIM:620330
Cleft Palate With Or Without Ankyloglossia, X-Linked
Ankyloglossia, Bifid uvula, Cleft palate OMIM:303400
Angelman Syndrome
Precocious puberty in females, Protruding tongue, Wide mouth, Widely spaced teeth, Delayed menarche ORPHA:72
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Thrombocytopenia ORPHA:505248
Gaucher Disease, Type Ii
Splenomegaly, Thrombocytopenia, Anemia OMIM:230900
Acrodermatitis Enteropathica
Malabsorption, Cheilitis, Abnormality of the tongue, Furrowed tongue, Glossitis ORPHA:37
Achondrogenesis, Type Ia
Protruding tongue, Abnormal hand bone ossification, Abnormal foot bone ossification, Unossified v... OMIM:200600
Charcot-Marie-Tooth Disease Type 4C
Tongue atrophy, Weakness of facial musculature, Distal amyotrophy, Tongue fasciculations, Difficu... ORPHA:99949
Lathosterolosis
Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology ORPHA:46059
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:98795
Marburg Hemorrhagic Fever
Reticulocytosis, Lymphopenia, Elevated circulating creatine kinase concentration, Hyperamylasemia... ORPHA:99826
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Wide mouth, Widely spaced teeth, Limitation of movement at ankles, Protruding tongue ORPHA:98794
Bone Fragility With Contractures, Arterial Rupture, And Deafness
Thrombocytopenia OMIM:612394
21Q22.11Q22.12 Microdeletion Syndrome
Thrombocytopenia, Anemia ORPHA:261323
Odontoonychodermal Dysplasia
Abnormality of primary teeth, Agenesis of permanent teeth, Hyperhidrosis, Conical incisor, Hypohi... OMIM:257980
Ivic Syndrome
Leukocytosis, Thrombocytopenia OMIM:147750
Diamond-Blackfan Anemia 1
Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,... OMIM:105650
Wars2-Related Combined Oxidative Phosphorylation Defect
Thrombocytopenia ORPHA:572798
Angelman Syndrome Due To A Point Mutation
Wide mouth, Widely spaced teeth, Protruding tongue ORPHA:411511
Chronic Visceral Acid Sphingomyelinase Deficiency
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper... ORPHA:77293
Tick-Borne Encephalitis
Thrombocytopenia, Leukopenia, Leukocytosis, Elevated circulating C-reactive protein concentration ORPHA:297
Brucellosis
Liver abscess, Lung abscess, Elevated circulating C-reactive protein concentration, Hypersplenism... ORPHA:1304
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hyperbilirubinemia OMIM:210710
Idiopathic Hypereosinophilic Syndrome
Neutrophilia, Eosinophilia, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Mye... ORPHA:3260
Porphyria, Congenital Erythropoietic
Elevated circulating uroporphyrin concentration, Hemolytic anemia, Thrombocytopenia, Splenomegaly OMIM:263700
Leukocyte Adhesion Deficiency Type Ii
Recurrent urinary tract infections, Severe periodontitis, Protruding tongue, Deep philtrum, Prema... ORPHA:99843
Mogs-Cdg
Thrombocytopenia, Hepatosplenomegaly ORPHA:79330
Thrombocytopenia-Absent Radius Syndrome
Thrombocytopenia ORPHA:3320
Icf Syndrome
Macroglossia, Malabsorption, Protruding tongue ORPHA:2268
Toxic Epidermal Necrolysis
Thrombocytopenia, Anemia, Neutropenia ORPHA:537
Q Fever
Splenomegaly, Hepatosplenomegaly, Anemia, Granuloma, Thrombocytopenia ORPHA:781
Stevens-Johnson Syndrome
Anemia, Thrombocytopenia, Abnormality of neutrophils ORPHA:36426
Pitt-Hopkins-Like Syndrome 2
Wide mouth, Pulmonic stenosis, Protruding tongue OMIM:614325
Dubowitz Syndrome
Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils ORPHA:235
Neurooculorenal Syndrome
Conjugated hyperbilirubinemia OMIM:620305
Cystic Fibrosis
Male infertility OMIM:219700
Nijmegen Breakage Syndrome
T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia OMIM:251260
Kikuchi-Fujimoto Disease
Elevated circulating C-reactive protein concentration, Thrombocytopenia, Splenomegaly, Leukopenia... ORPHA:50918
Alport Syndrome 1, X-Linked
Thrombocytopenia OMIM:301050
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thrombocytopenia, Anemia OMIM:612199
Atelis Syndrome 2
Thrombocytopenia, Anemia OMIM:620185
Aicardi-Goutieres Syndrome 7
Hemolytic anemia, Pancytopenia, Increased circulating ferritin concentration, Splenomegaly, Anemi... OMIM:615846
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Limb hypertonia, Protruding tongue OMIM:619580
Hypoglossia-Hypodactyly Syndrome
Jejunal atresia, Aplasia/Hypoplasia of the tongue, Cleft palate, High palate, Hypodontia, Narrow ... ORPHA:989
Developmental And Epileptic Encephalopathy 100
Tented upper lip vermilion, Protruding tongue, Bilateral camptodactyly, Elbow flexion contracture... OMIM:619777
T-Cell Immunodeficiency With Thymic Aplasia
Hypocalcemic tetany, Hypothyroidism, Aplasia of the thymus, Thyroiditis ORPHA:83471
Developmental And Epileptic Encephalopathy 31B
Gingival overgrowth, Protruding tongue OMIM:620352
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619005
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Cryptorchidism, Microglossia, Renal hypoplasia, Cleft palate,... OMIM:607932
Dyskeratosis Congenita
Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly ORPHA:1775
Fibular Hemimelia
Thrombocytopenia ORPHA:93323
Ankyloglossia With Or Without Tooth Anomalies
Supernumerary tooth, Ankyloglossia OMIM:106280
Bilateral Perisylvian Polymicrogyria
Ectopic posterior pituitary, Protruding tongue, Flexion contracture, Abnormality of masticatory m... ORPHA:98889
Rift Valley Fever
Thrombocytopenia, Anemia ORPHA:319251
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Splenomegaly, Thrombocytopenia OMIM:301072
Choreoacanthocytosis
Elevated circulating aspartate aminotransferase concentration, Elevated circulating creatine kina... ORPHA:2388
Nijmegen Breakage Syndrome
Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia ORPHA:647
Okur-Chung Neurodevelopmental Syndrome
Thin upper lip vermilion, Protruding tongue, Abnormal heart morphology, High palate, Joint hyperm... OMIM:617062
Thrombocytopenia-Absent Radius Syndrome
Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia OMIM:274000
Systemic Lupus Erythematosus
Leukopenia, Hemolytic anemia, Thrombocytopenia ORPHA:536
Cornelia De Lange Syndrome 1
Thrombocytopenia OMIM:122470
Hypoglossia-Hypodactylia
Microglossia, Aglossia, Narrow mouth OMIM:103300
Primary Sjögren Syndrome
Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T... ORPHA:289390
Deeah Syndrome
Decreased hemoglobin concentration, Thrombocytopenia OMIM:619004
Congenital Disorder Of Glycosylation, Type Iim
Neonatal hyperbilirubinemia OMIM:300896
X-Linked Dystonia-Parkinsonism
Protruding tongue ORPHA:53351
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thrombocytopenia, Increased mean platelet volume ORPHA:487796
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset
Ankyloglossia OMIM:619352
Autosomal Recessive Polycystic Kidney Disease
Hyponatremia, Hypersplenism, Splenomegaly, Hepatosplenomegaly, Increased serum bile acid concentr... ORPHA:731
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia OMIM:305000
Jacobsen Syndrome
Thrombocytopenia OMIM:147791
Crimean-Congo Hemorrhagic Fever
Pancytopenia, Neutrophilia, Elevated circulating creatine kinase concentration, Splenomegaly, Leu... ORPHA:99827
Pachyonychia Congenita 3
Chapped lip, Gingivitis, Hyperhidrosis, Furrowed tongue, Oral leukoplakia OMIM:615726
Fanconi Anemia
Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia ORPHA:84
Spondyloepimetaphyseal Dysplasia, X-Linked
Abnormality of alkaline phosphatase level, Delayed ossification of carpal bones, Limited elbow ex... OMIM:300106
Proteasome-Associated Autoinflammatory Syndrome 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr... OMIM:256040
Jacobsen Syndrome
Thrombocytopenia ORPHA:2308
Leukemia, Chronic Myeloid
Reduced leukocyte alkaline phosphatase OMIM:608232
Neuroocular Syndrome
Hyperextensibility of the finger joints, Scapular winging, Short uvula, Submucous cleft hard pala... OMIM:619539
Gallbladder Neuroendocrine Tumor
Elevated alkaline phosphatase of hepatic origin, Elevated gamma-glutamyltransferase level, Interm... ORPHA:100086
Acute Liver Failure
Thrombocytopenia, Hyperammonemia ORPHA:90062
Igg4-Related Dacryoadenitis And Sialadenitis
Thrombocytopenia ORPHA:79078
Leptospirosis
Hyperproteinemia, Thrombocytopenia ORPHA:509
Plague
Chapped lip, Enterocolitis, Endocarditis, Arthritis, Inflammation of the large intestine, Glossitis ORPHA:707

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 Galnt3

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 Galnt3.

No publications found that use IMPC mice or data for Galnt3.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Galnt3tm34464(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Galnt3em1(IMPC)Ccpcz Exon Deletion Mice, Tissue
Galnt3tm34464(L1L2_st2) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Galnt3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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