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Gene: F2 MGI:88380

Gene Summary

Name:

coagulation factor II

Synonyms:

FII, Cf-2, thrombin, prothrombin, Cf2

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
increased circulating serum albumin level	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	6.49×10^-05
decreased exploration in new environment	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.48×10^-08
decreased lean body mass	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	4.18×10^-08
decreased mean corpuscular volume	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.99×10^-05
preweaning lethality, incomplete penetrance	F2^{tm1b(EUCOMM)Hmgu}	HOM	Early adult	0.00
increased circulating fructosamine level	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	8.52×10^-05
decreased bone mineral content	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.15×10^-06
increased total body fat amount	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	1.84×10^-06
tremors	F2^{tm1b(EUCOMM)Hmgu}	HET	Early adult	2.70×10^-06

Download data as: TSV XLS

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Viewing: all phenotypes

lacZ Expression

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

Anatomy	Images	Zygosity	Mutant Expr
Testis	Wholemount images	heterozygote	50% (1 of 2)
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	0.0% (0 of 2)
Brainstem	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	0.0% (0 of 2)
Cerebral cortex	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	0.0% (0 of 2)
Hypothalamus	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

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

Anatomy	Images	Zygosity	Mutant Expr
Brain	N/A	heterozygote	0.0% (0 of 1)
Brain	N/A	homozygote	0.0% (0 of 1)
Ear	N/A	heterozygote	0.0% (0 of 1)
Ear	N/A	homozygote	0.0% (0 of 1)
Embryo	N/A	heterozygote	100% (1 of 1)
Embryo	N/A	homozygote	100% (1 of 1)
Eye	N/A	heterozygote	0.0% (0 of 1)
Eye	N/A	homozygote	0.0% (0 of 1)
Footplate	N/A	heterozygote	0.0% (0 of 1)
Footplate	N/A	homozygote	0.0% (0 of 1)
Forebrain	N/A	heterozygote	0.0% (0 of 1)
Forebrain	N/A	homozygote	0.0% (0 of 1)
Forelimb	N/A	heterozygote	0.0% (0 of 1)
Forelimb	N/A	homozygote	0.0% (0 of 1)
Handplate	N/A	heterozygote	0.0% (0 of 1)
Handplate	N/A	homozygote	0.0% (0 of 1)
Head	N/A	heterozygote	0.0% (0 of 1)
Head	N/A	homozygote	0.0% (0 of 1)
Heart	N/A	heterozygote	Ambiguous
Heart	N/A	homozygote	0.0% (0 of 1)
Hindbrain	N/A	heterozygote	0.0% (0 of 1)
Hindbrain	N/A	homozygote	0.0% (0 of 1)
Hindlimb	N/A	heterozygote	0.0% (0 of 1)
Hindlimb	N/A	homozygote	0.0% (0 of 1)
Liver	N/A	heterozygote	100% (1 of 1)
Liver	N/A	homozygote	100% (1 of 1)
Lung	N/A	heterozygote	0.0% (0 of 1)
Lung	N/A	homozygote	0.0% (0 of 1)
Mandibular process	N/A	heterozygote	0.0% (0 of 1)
Mandibular process	N/A	homozygote	0.0% (0 of 1)
Maxillary process	N/A	heterozygote	0.0% (0 of 1)
Maxillary process	N/A	homozygote	0.0% (0 of 1)
Midbrain	N/A	heterozygote	0.0% (0 of 1)
Midbrain	N/A	homozygote	0.0% (0 of 1)
Oral cavity	N/A	heterozygote	0.0% (0 of 1)
Oral cavity	N/A	homozygote	0.0% (0 of 1)
Skin	N/A	heterozygote	0.0% (0 of 1)
Skin	N/A	homozygote	0.0% (0 of 1)
Tail somite	N/A	heterozygote	0.0% (0 of 1)
Tail somite	N/A	homozygote	0.0% (0 of 1)
Tail	N/A	heterozygote	0.0% (0 of 1)
Tail	N/A	homozygote	0.0% (0 of 1)

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

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
esophagus	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
olfactory lobe	0.0%
oral epithelium	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyers patch	0.0%
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle	0.0%
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
vascular system	0.0%
white adipose tissue	0.0%

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

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

Anatomy	Background staining in controls(WT)
brain	0.0%
ear	0.0%
embryo	0.0%
eye	0.0%
footplate	0.0%
forebrain	0.0%
forelimb	0.0%
handplate	0.0%
head	0.0%
heart	0.0%
hindbrain	0.0%
hindlimb	0.0%
liver	0.0%
lung	0.0%
mandibular process	0.0%
maxillary process	0.0%
midbrain	0.0%
oral cavity	0.0%
skin	0.0%
tail	0.0%
tail somite group	0.0%

Associated Images

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

MicroCT E18.5

Embryo reconstruction

3 Images

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Embryo LacZ

LacZ images wholemount

8 Images

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X-ray

XRay Images Whole Body Dorso Ventral

11 Images

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Adult LacZ

LacZ Images Wholemount

1 Images

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Immunophenotyping

Panel A FCS file(s)

8 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

4 Images

View images

Human diseases caused by F2 mutations

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

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

Human diseases associated with F2 (5 diseases)
Human diseases predicted to be associated with F2 (1029 diseases)

The table below shows human diseases associated to F2 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Stroke, Ischemic	Stroke	OMIM:601367
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Pregnancy Loss, Recurrent, Susceptibility To, 2		OMIM:614390

The table below shows human diseases predicted to be associated to F2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Von Willebrand Disease, X-Linked Form	Abnormal bleeding, Prolonged bleeding time	OMIM:314560
Tatsumi Factor Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:272650
Athrombia, Essential	Abnormal bleeding, Prolonged bleeding time, Impaired platelet adhesion, Impaired platelet aggrega...	OMIM:209050
Pseudo-Von Willebrand Disease	Prolonged bleeding time	OMIM:177820
Bleeding Disorder, Platelet-Type, 18	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:615888
Glanzmann Thrombasthenia 2	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Decreased platelet glycoprotein IIb-IIIa, ...	OMIM:619267
Platelet Glycoprotein Iv Deficiency	Abnormal bleeding, Prolonged bleeding time	OMIM:608404
Bleeding Disorder, Platelet-Type, 14	Prolonged bleeding time, Ecchymosis, Bruising susceptibility, Epistaxis	OMIM:614158
Bleeding Disorder, Platelet-Type, 11	Prolonged bleeding time, Epistaxis, Menorrhagia, Impaired collagen-induced platelet aggregation, ...	OMIM:614201
Glanzmann Thrombasthenia	Gastrointestinal hemorrhage, Prolonged bleeding time, Spontaneous, recurrent epistaxis, Purpura, ...	ORPHA:849
Glanzmann Thrombasthenia 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Impaired epinephrine-induced platelet aggre...	OMIM:273800
Osteoarthritis Susceptibility 1	Hip osteoarthritis	OMIM:165720
Factor V Deficiency	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Menorrhagia, B...	OMIM:227400
Osteoarthritis Susceptibility 2	Osteoarthritis, Heberden's node	OMIM:140600
Chondrocalcinosis 2	Arthropathy, Polyarticular chondrocalcinosis, Osteoarthritis	OMIM:118600
Chondrocalcinosis 1	Osteoarthritis, Chondrocalcinosis	OMIM:600668
Glycoprotein Storage Disease	Gout	OMIM:232900
Osteoarthritis Susceptibility 3	Osteoarthritis, Osteoarthritis of the distal interphalangeal joint, Osteoarthritis of the first c...	OMIM:607850
Bernard-Soulier Syndrome	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:231200
Episodic Ataxia, Type 1	Incoordination, Elevated circulating creatine kinase concentration, Tremor, Babinski sign, Slurre...	OMIM:160120
Aneurysm, Intracranial Berry, 12	Internal carotid artery dissection, Subarachnoid hemorrhage, Fusiform cerebral aneurysm, Arterial...	OMIM:618734
Platelet Disorder, Undefined	Abnormal bleeding, Prolonged bleeding time, Impaired platelet aggregation	OMIM:173420
Parkinson Disease 24, Autosomal Dominant, Susceptibility To	Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres...	OMIM:619491
Prothrombin Deficiency, Congenital	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged prothrombin time, Meno...	OMIM:613679
Von Willebrand Disease, Type 3	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery, Menorrha...	OMIM:277480
Bleeding Disorder, Platelet-Type, 8	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Impaired ADP-induced platelet agg...	OMIM:609821
Internal Carotid Absence	Dilatation of the cerebral artery, Cerebral ischemia, Subarachnoid hemorrhage	ORPHA:981
Afibrinogenemia, Congenital	Abnormal bleeding, Death in infancy, Epidural hemorrhage, Epistaxis, Hematemesis, Subdural hemorr...	OMIM:202400
Slipped Femoral Capital Epiphyses	Hip osteoarthritis	OMIM:182260
Aneurysm, Intracranial Berry, 1	Intracranial hemorrhage, Dilatation of the cerebral artery	OMIM:105800
Acute Peripheral Arterial Occlusion	Myocardial infarction, Abnormal capillary physiology, Absent ankle pulse, Stroke, Pallor, Suprave...	ORPHA:90064
Aneurysm, Intracranial Berry, 2	Cerebral berry aneurysm, Subarachnoid hemorrhage	OMIM:608542
Plasma Clot Retraction Factor, Deficiency Of	Gastrointestinal hemorrhage, Bruising susceptibility, Poor wound healing	OMIM:262800
Bleeding Disorder, Platelet-Type, 22	Impaired platelet aggregation, Subcutaneous hemorrhage, Excessive bleeding from superficial cuts	OMIM:618462
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst...	ORPHA:401901
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Post-partum hemorrhage, Menorrhagia, Impaired platelet aggreg...	OMIM:614076
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Ataxia, Tremor, Flexion contracture, Babinski sign, Cognitive impairment, Spasticity	OMIM:611105
Immune Thrombocytopenia	Gastrointestinal hemorrhage, Epistaxis, Cerebral hemorrhage, Gingival bleeding, Bruising suscepti...	ORPHA:3002
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:155100
Sandhoff Disease, Adult Form	Elevated circulating creatine kinase concentration, Tremor, Focal dystonia, Gait ataxia, Fascicul...	ORPHA:309169
Storage Pool Platelet Disease	Abnormal bleeding, Prolonged bleeding time	OMIM:185050
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomy...	OMIM:619897
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto...	OMIM:614561
Familial Cervical Artery Dissection	Striae distensae, Carotid artery dissection, Transient ischemic attack, Subarachnoid hemorrhage, ...	ORPHA:36382
Talo-Patello-Scaphoid Osteolysis	Osteolysis of talus, Enlarged joints, Osteolysis of scaphoids, Synovitis, Osteolysis of patellae	ORPHA:50809
Hemophilia B	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Prolonged bleeding after surgery, Join...	ORPHA:98879
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign	OMIM:311050
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Factor Xiii, B Subunit, Deficiency Of	Abnormal bleeding, Prolonged bleeding after surgery, Ecchymosis, Bruising susceptibility, Abnorma...	OMIM:613235
Thrombocytopenia, Paris-Trousseau Type	Abnormal bleeding, Prolonged bleeding time	OMIM:188025
Complement Component C1R/C1S Deficiency	Discoid lupus rash, Arthritis, Nephritis, Autoimmunity	OMIM:216950
Purpura Simplex	Bruising susceptibility, Menorrhagia, Epistaxis, Purpura	OMIM:179000
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Talo-Patello-Scaphoid Osteolysis, Synovitis, And Short Fourth Metacarpals	Osteolysis of talus, Osteolysis of scaphoids, Osteolysis of patellae, Synovitis	OMIM:609655
Cerebral Cavernous Malformations	Intracranial hemorrhage, Cerebral cavernous malformation	OMIM:116860
Bleeding Disorder, Platelet-Type, 13, Susceptibility To	Ecchymosis, Bruising susceptibility, Epistaxis, Impaired thromboxane A2 agonist-induced platelet ...	OMIM:614009
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Fetal And Neonatal Alloimmune Thrombocytopenia	Abnormal bleeding, Gastrointestinal hemorrhage, Subarachnoid hemorrhage, Cephalohematoma, Intracr...	ORPHA:853
Developmental Dysplasia Of The Hip 2	Hip osteoarthritis, Arthritis	OMIM:615612
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto...	ORPHA:79262
Von Willebrand Disease, Type 1	Gastrointestinal hemorrhage, Prolonged bleeding time, Epistaxis, Prolonged bleeding after surgery...	OMIM:193400
Gray Platelet Syndrome	Abnormal bleeding, Prolonged bleeding time, Impaired thrombin-induced platelet aggregation, Epist...	OMIM:139090
Angel-Shaped Phalangoepiphyseal Dysplasia	Hip osteoarthritis, Hyperextensibility of the finger joints, Premature osteoarthritis, Delayed os...	OMIM:105835
Congenital Factor Xiii Deficiency	Post-partum hemorrhage, Delayed onset bleeding, Inflammation of the large intestine, Ecchymosis, ...	ORPHA:331
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Poor appetite, Abnormal large intestine morphol...	ORPHA:2198
Cutaneous Small Vessel Vasculitis	Cutis marmorata, Erythema, Vasculitis, Urticaria, Purpura	ORPHA:889
Platelet Responsiveness To Adrenaline, Depressed	Impaired epinephrine-induced platelet aggregation	OMIM:173580
Congenital Factor V Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:326
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Intrauterine growth retardation, Feeding difficulties, Death in chil...	OMIM:620368
Cerebral Amyloid Angiopathy, Cst3-Related	Intracranial hemorrhage, Stroke, Cerebral hemorrhage	OMIM:105150
Bleeding Disorder, Platelet-Type, 17	Abnormal bleeding, Prolonged bleeding time, Gastrointestinal hemorrhage, Epistaxis, Prolonged ble...	OMIM:187900
Cerebral Cavernous Malformations 2	Cerebral cavernous malformation, Stroke, Cerebral hemorrhage, Telangiectasia	OMIM:603284
Dystonia 11, Myoclonic	Torticollis, Writer's cramp, Tremor, Depression, Myoclonus	OMIM:159900
Epidermolysis Bullosa Simplex 5A, Ogna Type	Skin fragility with non-scarring blistering, Bruising susceptibility	OMIM:131950
Aplasia Cutis Congenita	Prolonged bleeding time	ORPHA:1114
Kienbock Disease	Osteoarthritis, Limitation of joint mobility, Osteochondritis dissecans, Abnormality of the wrist	ORPHA:97332
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Familial Hypofibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Gingival bleeding	ORPHA:98881
Abetal34V Amyloidosis	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324703
Episodic Ataxia With Slurred Speech	Tremor, Slurred speech, Gait ataxia	ORPHA:401953
Circumvallate Placenta Syndrome	Intracranial hemorrhage	OMIM:215550
Factor Xiii, A Subunit, Deficiency Of	Abnormal bleeding, Epistaxis, Intracranial hemorrhage, Spontaneous hematomas, Abnormal umbilical ...	OMIM:613225
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Atypical Pantothenate Kinase-Associated Neurodegeneration	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr...	ORPHA:216873
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Orthostatic Hypotensive Disorder, Streeten Type	Orthostatic hypotension, Syncope, Bruising susceptibility, Facial erythema	OMIM:143850
Mitochondrial Complex I Deficiency, Nuclear Type 30	Neonatal death, Congestive heart failure, Redundant skin	OMIM:301021
Spinocerebellar Ataxia Type 15/16	Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t...	ORPHA:98769
Complement Component 4A Deficiency	Cutaneous photosensitivity, Vasculitis, Purpura	OMIM:614380
Glut1 Deficiency Syndrome 2	Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D...	OMIM:612126
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra...	OMIM:615362
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Dystonia, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Chorea, Mental dete...	OMIM:208920
Spinocerebellar Ataxia Type 28	Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Depres...	ORPHA:101109
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Slc35A1-Cdg	Abnormal bleeding, Prolonged bleeding time, Pneumonia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Huntington Disease-Like 2	Rigidity, Chorea, Subcortical dementia, Weight loss, Bradykinesia, Depression, Irritability, Deme...	OMIM:606438
Ataxia-Oculomotor Apraxia 4	Ataxia, Elevated circulating alpha-fetoprotein concentration, Abnormal pyramidal sign, Obesity, T...	OMIM:616267
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal circulating calcium concentration, Abnormal pyra...	OMIM:213600
Hyperphenylalaninemia, Bh4-Deficient, D	Tremor, Hypertonia, Transient hyperphenylalaninemia, Hyperphenylalaninemia	OMIM:264070
Familial Afibrinogenemia	Abnormal bleeding, Miscarriage, Epistaxis, Cerebral hemorrhage, Gingival bleeding	ORPHA:98880
Thrombocytopenia With Beta-Thalassemia, X-Linked	Prolonged bleeding time, Bruising susceptibility, Epistaxis, Petechiae	OMIM:314050
Tremor, Hereditary Essential, 6	Postural tremor, Kinetic tremor, Head tremor, Vocal tremor	OMIM:618866
Bernard-Soulier Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Spontaneous, recurrent epistaxis, Hematemesis, Pr...	ORPHA:274
Congenital Factor X Deficiency	Gastrointestinal hemorrhage, Epistaxis, Subarachnoid hemorrhage, Prolonged bleeding after surgery...	ORPHA:328
Snakebite Envenomation	Abnormal bleeding, Tachycardia, Epistaxis, Myocardial infarction, Edema, Cardiogenic shock, Angio...	ORPHA:449285
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Gastrointestinal hemorrhage, Epidural hemorrhage, Miscarriage, Prolonged bleeding after dental ex...	ORPHA:465
Cutaneous Collagenous Vasculopathy	Prominent superficial blood vessels, Erythema, Diffuse telangiectasia, Bruising susceptibility, V...	ORPHA:280779
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Blue Rubber Bleb Nevus	Prolonged bleeding time, Intestinal bleeding, Skin rash	ORPHA:1059
Reversible Cerebral Vasoconstriction Syndrome	Abnormal bleeding, Carotid artery dissection, Transient ischemic attack, Cerebral hemorrhage, Sub...	ORPHA:284388
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia	OMIM:617018
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Cerebral berry aneurysm, Subarachnoid hemorrhage, Intracranial hemorrh...	ORPHA:231160
Congenital Factor Vii Deficiency	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Post-partum hemorrhage,...	ORPHA:327
Congenital Factor Ii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Prolonged bleeding following procedure, Post-part...	ORPHA:325
Encephalopathy, Progressive, With Or Without Lipodystrophy	Hypertriglyceridemia, Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia,...	OMIM:615924
Hyperphenylalaninemia, Bh4-Deficient, C	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Choreoathetosis, Irritabilit...	OMIM:261630
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged bleeding after dental extraction	OMIM:137560
Spinocerebellar Ataxia 20	Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor	OMIM:608687
Spinocerebellar Ataxia 48	Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression...	OMIM:618093
Acquired Purpura Fulminans	Shock, Hepatic failure, Pyoderma gangrenosum, Intracranial hemorrhage, Prolonged prothrombin time...	ORPHA:49566
Analbuminemia	Lipodystrophy, Osteoporosis, Elevated circulating transferrin concentration, Increased LDL choles...	OMIM:616000
Hyperimmunoglobulinemia D With Periodic Fever	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Diarrhea, Vasculitis, Erythe...	ORPHA:343
Platelet Signal Processing Defect	Abnormal bleeding, Epistaxis, Impaired ADP-induced platelet aggregation, Impaired collagen-induce...	OMIM:173590
Factor Vii Deficiency	Abnormal bleeding, Epistaxis, Joint hemorrhage, Intracranial hemorrhage, Menorrhagia, Bruising su...	OMIM:227500
Spinocerebellar Ataxia 12	Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki...	OMIM:604326
Cerebral Cavernous Malformations 3	Cerebral cavernous malformation, Cerebral hemorrhage	OMIM:603285
Iga Nephropathy, Susceptibility To, 1	Hypertension, Purpura	OMIM:161950
Roch-Leri Mesosomatous Lipomatosis	Purpura	ORPHA:529
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Skin ulcer, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Ehlers-Danlos Syndrome, Periodontal Type, 2	Prominent superficial veins, Colon cancer, Gingival bleeding, Umbilical hernia, Bruising suscepti...	OMIM:617174
Migraine, Familial Hemiplegic, 1	Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia	OMIM:141500
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ...	ORPHA:314632
Complement Component 2 Deficiency	Purpura	OMIM:217000
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage	OMIM:106070
Abeta Amyloidosis, Italian Type	Stroke, Cerebral hemorrhage	ORPHA:324713
Parkinson Disease 6, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:605909
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Prolonged bleeding time, Bruising susceptibility, Impaired platelet aggregation, Epistaxis	OMIM:601399
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Edema, Pulmonary embolism, Congestive heart...	ORPHA:90308
Dystonia, Dopa-Responsive	Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park...	OMIM:128230
Spinocerebellar Ataxia Type 12	Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign, Bradykinesia, Poor...	ORPHA:98762
Abeta Amyloidosis, Iowa Type	Abnormal cerebral vascular morphology, Stroke, Cerebral hemorrhage	ORPHA:324708
Spinal Muscular Atrophy, Jokela Type	Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:615048
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Abdominal pain, Feeding difficulties in infancy, Abdominal distentio...	ORPHA:2924
Parkinson-Dementia Syndrome	Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia	OMIM:260540
Combined Deficiency Of Factor V And Factor Viii	Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolo...	ORPHA:35909
Fibrinolytic Defect	Spontaneous hematomas	OMIM:134900
Epilepsy, Progressive Myoclonic 7	Tremor, Mental deterioration, Ataxia, Myoclonus	OMIM:616187
Tremor, Hereditary Essential, 1	Postural tremor, Hand tremor, Action tremor	OMIM:190300
Spinocerebellar Ataxia With Axonal Neuropathy Type 2	Ataxia, Postural tremor, Elevated circulating creatine kinase concentration, Elevated circulating...	ORPHA:64753
Dengue Fever	Gastrointestinal hemorrhage, Nausea and vomiting, Epistaxis, Cerebral hemorrhage, Abdominal pain,...	ORPHA:99828
Primary Release Disorder Of Platelets	Abnormal bleeding, Spontaneous, recurrent epistaxis, Bruising susceptibility, Menorrhagia	OMIM:176630
Thrombocytopenia 2	Bruising susceptibility	OMIM:188000
Cryoglobulinemic Vasculitis	Gastrointestinal hemorrhage, Cutis marmorata, Abdominal pain, Vasculitis, Skin ulcer, Gastrointes...	ORPHA:91138
Bleeding Disorder, Platelet-Type, 9	Bruising susceptibility	OMIM:614200
Dystonia 12	Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability	OMIM:128235
Intrinsic Factor Deficiency	Increased RBC distribution width, Megaloblastic anemia, Increased mean corpuscular volume, Megalo...	OMIM:261000
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Constrictive pericarditis, Pleural effusion, Gastrointestinal infarc...	OMIM:602248
Neurodegeneration With Brain Iron Accumulation 3	Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement...	OMIM:606159
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis Syndrome	Arthropathy, Generalized morning stiffness, Arthritis, Congenital finger flexion contractures, Co...	OMIM:208250
Spastic Ataxia 2, Autosomal Recessive	Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl...	OMIM:611302
Moderate Hemophilia A	Gastrointestinal hemorrhage, Abnormal bleeding, Epidural hemorrhage, Prolonged bleeding after den...	ORPHA:169805
Factor X Deficiency	Epistaxis, Prolonged bleeding after surgery, Intracranial hemorrhage, Prolonged prothrombin time,...	OMIM:227600
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	ORPHA:745
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Eosinophilic Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Recurrent intrapulmonary hemorrhage, Transient ische...	ORPHA:183
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7	Tremor, Vocal cord paresis, Vocal cord paralysis	OMIM:158580
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Mitral valve prolapse, Arrhythmia, Spina bifida occulta, Bruising su...	ORPHA:230839
Myh9-Related Disease	Prolonged bleeding time, Spontaneous, recurrent epistaxis, Menorrhagia, Bruising susceptibility, ...	ORPHA:182050
Acquired Von Willebrand Syndrome	Aortic regurgitation, Gastrointestinal hemorrhage, Epistaxis, Gastrointestinal angiodysplasia, In...	ORPHA:99147
Neurofibromatosis-Noonan Syndrome	Prolonged bleeding time	ORPHA:638
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Multiple joint contractures, Hypermanganesemia, Parkinsonism, Tremor, Babinski sign, Scissor gait...	ORPHA:521406
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia	OMIM:618425
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Spinocerebellar Ataxia Type 20	Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga...	ORPHA:101110
Spinocerebellar Ataxia, Autosomal Recessive 16	Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity	OMIM:615768
Sickle Cell Anemia	Hemolytic anemia, Reticulocytosis, Microcytic anemia, Abnormality of the spleen, Leukocytosis, Os...	ORPHA:232
Severe Hemophilia A	Gastrointestinal hemorrhage, Epidural hemorrhage, Epistaxis, Poor wound healing, Prolonged bleedi...	ORPHA:169802
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Congenital Heart Block	First degree atrioventricular block, Gallop rhythm, Congestive heart failure, Patent ductus arter...	ORPHA:60041
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Hypoalbuminemia, Obesity, Craniosynostosis	ORPHA:88643
Hemophilia A	Gastrointestinal hemorrhage, Intraventricular hemorrhage, Intracranial hemorrhage, Joint swelling...	ORPHA:98878
Saccharopinuria	Tremor, Mental deterioration, Hypercystinemia, Spastic diplegia, Hyperammonemia, Gait ataxia, Abn...	ORPHA:3124
Spinocerebellar Ataxia, Autosomal Recessive 4	Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc...	OMIM:607317
Bilateral Striopallidodentate Calcinosis	Intrauterine growth retardation, Subcutaneous hemorrhage	ORPHA:1980
Peripheral Dysostosis	Hip osteoarthritis	OMIM:170700
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Ataxia, Increased VL...	OMIM:267700
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome	Pallor	ORPHA:46532
Acute Promyelocytic Leukemia	Abnormal bleeding, Epistaxis, Anorexia, Diffuse alveolar hemorrhage, Abdominal pain, Oral cavity ...	ORPHA:520
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat...	ORPHA:240103
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In...	OMIM:616053
Neuroendocrine Tumor Of The Rectum	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa...	ORPHA:100082
Evans Syndrome	Epistaxis, Jaundice, Syncope, Pallor, Bruising susceptibility, Petechiae	ORPHA:1959
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Splenomegaly, Hypoalbuminemia, Increased serum bile acid concentra...	OMIM:619868
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation	OMIM:613112
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme...	OMIM:617284
Hemochromatosis, Type 3	Cardiomyopathy, Purpura	OMIM:604250
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation,...	OMIM:614075
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Spinocerebellar Ataxia Type 31	Tremor, Spasticity, Gait ataxia	ORPHA:217012
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Epistaxis, Impaired ristocetin-induced platelet aggregation, Impaired ADP-induced platelet aggreg...	OMIM:153670
Bleeding Disorder In Hemophilia A Carriers	Abnormal bleeding, Epistaxis, Prolonged bleeding after surgery, Joint hemorrhage, Prolonged bleed...	ORPHA:177926
Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy	Transient ischemic attack, Cerebral hemorrhage, Arterial stenosis, Intracranial hemorrhage, Hyper...	ORPHA:136
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Cutis marmorata, Epistaxis, Anorexia, Malabsorption, Periorbital ede...	ORPHA:33226
Portal Hypertension, Noncirrhotic, 2	Epistaxis, Portal hypertension, Esophageal varix, Hepatocellular carcinoma, Ecchymosis, Ascites, ...	OMIM:619463
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Lower Motor Neuron Syndrome With Late-Adult Onset	Elevated circulating creatine kinase concentration, Tremor, Tongue fasciculations, Fasciculations...	ORPHA:276435
Rapid-Onset Dystonia-Parkinsonism	Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ...	ORPHA:71517
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Pallor	ORPHA:79283
Thiamine-Responsive Megaloblastic Anemia Syndrome	Cardiac arrest, Paroxysmal atrial tachycardia, Congestive heart failure, Stroke, Pallor	ORPHA:49827
Hermansky-Pudlak Syndrome 5	Prolonged bleeding time, Epistaxis, Impaired ADP-induced platelet aggregation, Menorrhagia, Bruis...	OMIM:614074
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Epistaxis, Abdominal pain, Hematochezia, Cardiomyopathy, Inflammation of...	OMIM:203300
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Spinocerebellar Ataxia 37	Tremor, Frequent falls, Ataxia	OMIM:615945
Peripheral Cone Dystrophy	Pallor	OMIM:609021
Vascular Hyalinosis	Subarachnoid hemorrhage, Malabsorption, Diarrhea, Hematochezia, Premature graying of hair, Protei...	OMIM:277175
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Abnormal bleeding, Epistaxis, Cerebral hemorrhage, Prolonged prothrombin time, Ecchymosis, Bruisi...	OMIM:277450
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Abdominal pain, Diarrhea, Malnutrition, Darier's sign, Urticaria, De...	ORPHA:79456
Cerebral Amyloid Angiopathy, App-Related	Tortuous cerebral arteries, Subarachnoid hemorrhage, Cerebellar hemorrhage, Recurrent cerebral he...	OMIM:605714
Cone-Rod Dystrophy 11	Pallor	OMIM:610381
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Cyanosis, Abdominal pain, Internal hemorrhage, Prolonged prothrom...	ORPHA:335
Familial Calcium Pyrophosphate Deposition	Joint dislocation, Osteoarthritis, Limitation of joint mobility, Arthritis, Joint swelling, Chond...	ORPHA:1416
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality	Striae distensae, Bruising susceptibility, Petechiae, Mitral valve prolapse	OMIM:225310
Dehydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Neonatal hyperbilirubinemia, Anemia of inad...	ORPHA:3202
Sjogren Syndrome	Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Autoimmunity, Rheumatoid arthritis	OMIM:270150
Stroke, Ischemic	Stroke	OMIM:601367
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp...	ORPHA:251282
Fetal Gaucher Disease	Neonatal death, Death in infancy, Stillbirth, Intracranial hemorrhage	ORPHA:85212
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal in...	ORPHA:85446
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Recurrent intrapulmonary hemorrhage, Epistaxis, Sudden cardiac death, He...	ORPHA:906
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Polyhydramnios, Edema, Cardiomegaly, Gastrointestinal dysmotility, Gastroe...	ORPHA:363705
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i...	ORPHA:98763
Congenital Bile Acid Synthesis Defect Type 1	Abnormal bleeding, Jaundice, Gastrointestinal hemorrhage, Malabsorption	ORPHA:79301
Congenital Factor Xi Deficiency	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Joint hemorrhage, Menorrhagia, Prolong...	ORPHA:329
Solitary Rectal Ulcer Syndrome	Abdominal pain, Rectal prolapse, Episodic abdominal pain, Hematochezia, Chronic constipation, Ten...	ORPHA:209964
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Poor appetite, Anorexia, Abdominal pa...	ORPHA:2494
Hyperphenylalaninemia, Bh4-Deficient, A	Small for gestational age, Ataxia, Parkinsonism, Hyperphenylalaninemia, Tremor, Rigidity, Progres...	OMIM:261640
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Anti-Glomerular Basement Membrane Disease	Vasculitis, Purpura	ORPHA:375
Simple Cryoglobulinemia	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Pericarditis, Myocardial ...	ORPHA:91139
Mixed Connective Tissue Disease	Gastrointestinal hemorrhage, Prolonged bleeding time, Pericarditis, Gastritis, Myocarditis, Xeros...	ORPHA:809
Sneddon Syndrome	Intracranial hemorrhage, Hypertension, Arterial stenosis	ORPHA:820
Ganglioneuroma	Gastrointestinal hemorrhage, Functional intestinal obstruction, Episodic abdominal pain, Hamartom...	ORPHA:251992
Immunoglobulin A Vasculitis	Gastrointestinal hemorrhage, Nausea and vomiting, Edema, Anorexia, Abdominal pain, Angioedema, Va...	ORPHA:761
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa...	ORPHA:240085
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Menorrhagia, Impaired platelet aggregation, Bruising susceptibili...	OMIM:605735
Familial Multiple Nevi Flammei	Pulmonary embolism, Venous insufficiency, Skin ulcer, Intracranial hemorrhage, Arteriovenous malf...	ORPHA:624
Felty Syndrome	Rheumatoid arthritis	OMIM:134750
Autoerythrocyte Sensitization Syndrome	Gastrointestinal hemorrhage, Epistaxis, Edema, Impaired platelet adhesion, Diarrhea, Intracranial...	ORPHA:324636
Epilepsy, Progressive Myoclonic, 6	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Myoclonus, Memory impairment	OMIM:614018
Hereditary Amyloidosis With Primary Renal Involvement	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Dyspepsia, Intestinal obs...	ORPHA:85450
Inflammatory Bowel Disease 11	Hematochezia, Diarrhea, Inflammation of the large intestine, Abdominal pain	OMIM:191390
Brain Small Vessel Disease 2	Intracranial hemorrhage	OMIM:614483
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased circulating creatine kinase MM isoform, Failure to thrive, Hypoalbuminemia, Hypermethio...	OMIM:613752
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Ehlers-Danlos Syndrome, Classic Type, 2	Bruising susceptibility, Fragile skin	OMIM:130010
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Vasculitis in the skin, Petechiae, Purpura	OMIM:620296
Diarrhea 7, Protein-Losing Enteropathy Type	Hypercholesterolemia, Hyperlipidemia, Failure to thrive, Hypoalbuminemia	OMIM:615863
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Failure to thrive, Elevated circulating C-reactive protein concentration, Splenomeg...	OMIM:616050
Spinocerebellar Ataxia With Axonal Neuropathy Type 1	Spastic dysarthria, Hypercholesterolemia, Ataxia, Hypoalbuminemia	ORPHA:94124
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive	Hip osteoarthritis, Osteoarthritis	OMIM:271600
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus	OMIM:615957
Cap Polyposis	Atrophic gastritis, Abdominal pain, Abdominal distention, Diarrhea, Hematochezia, Constipation, C...	ORPHA:160148
Aicardi-Goutieres Syndrome 6	Hemolytic anemia, Rigidity, Splenomegaly, Tremor, Irritability, Dystonia, Thrombocytopenia	OMIM:615010
Microscopic Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Cutis marmorata, Epistaxis, Abdom...	ORPHA:727
Thrombocytopenia 5	Bruising susceptibility, Epistaxis, Petechiae	OMIM:616216
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus	Tremor, Kinetic tremor	OMIM:611808
Refractory Celiac Disease	Normocytic anemia, Macrocytic anemia, Microcytic anemia, Increased proportion of HLA DR+ T cells,...	ORPHA:398063
Erythroderma, Lethal Congenital	Failure to thrive, Hypoalbuminemia	OMIM:227090
Optic Atrophy 7 With Or Without Auditory Neuropathy	Hypertrophic cardiomyopathy, Pallor	OMIM:612989
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus	OMIM:612437
Bleeding Disorder, Platelet-Type, 16	Abnormal bleeding, Impaired platelet aggregation, Petechiae	OMIM:187800
Crigler-Najjar Syndrome Type 1	Tremor, Memory impairment, Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Elevated circulating phytanic acid concentration, Depression, Hemiparesis, Increa...	OMIM:614307
Sepsis In Premature Infants	Abnormal bleeding, Tachycardia, Cyanosis, Edema, Abdominal distention, Jaundice, Gastrointestinal...	ORPHA:90051
X-Linked Ehlers-Danlos Syndrome	Umbilical hernia, Bruising susceptibility, Gastroesophageal reflux	ORPHA:75497
Primary Myelofibrosis	Abnormal bleeding, Portal hypertension, Anorexia, Pallor, Ecchymosis, Petechiae, Purpura	ORPHA:824
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia	Tremor, Failure to thrive, Myoclonus, Dystonia	OMIM:619651
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Frequent falls, Hemiballismus	ORPHA:494526
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi...	OMIM:617145
Aicardi-Goutieres Syndrome 1	Feeding difficulties in infancy, Vasculitis, Erythema, Multiple gastric polyps, Cardiomyopathy, P...	OMIM:225750
Bleeding Disorder, Platelet-Type, 19	Abnormal bleeding, Spontaneous hematomas, Menorrhagia, Epistaxis	OMIM:616176
Gaucher Disease, Perinatal Lethal	Nonimmune hydrops fetalis, Polyhydramnios, Cardiomegaly, Hepatic failure, Dysphagia, Neonatal dea...	OMIM:608013
Immunodeficiency, Common Variable, 6	Purpura	OMIM:613496
Diarrhea 13	Failure to thrive, Hypoalbuminemia	OMIM:620357
Non-Functioning Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:94080
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Intes...	ORPHA:464321
Lujo Hemorrhagic Fever	Shock, Generalized edema, Facial edema, Periorbital edema, Excessive bleeding after a venipunctur...	ORPHA:319213
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Hypertriglyceridemia, Ataxia, Poor motor coordination, Reduc...	ORPHA:363400
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra...	OMIM:164500
Bleeding Disorder, Platelet-Type, 20	Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:616913
Von Willebrand Disease, Type 2	Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:613554
Mitochondrial Trifunctional Protein Deficiency 2	Death in infancy, Tricuspid regurgitation, Cerebral hemorrhage, Dilated cardiomyopathy, Mitral re...	OMIM:620300
Pituitary Adenoma 4, Acth-Secreting	Edema, Poor wound healing, Facial erythema, Hypertension, Ecchymosis, Bruising susceptibility, St...	OMIM:219090
Tufted Angioma	Petechiae, Purpura	ORPHA:1063
Periventricular Nodular Heterotopia 1	Patent ductus arteriosus, Stroke, Cerebral hemorrhage	OMIM:300049
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Ataxia, Splenomegaly, Increased circulating fer...	OMIM:603553
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Meningococcal Meningitis	Shock, Projectile vomiting, Anorexia, Hypotension, Petechiae, Purpura	ORPHA:33475
Acute Myelomonocytic Leukemia	Abnormal bleeding, Pallor	ORPHA:517
Eosinophilic Gastroenteritis	Abnormality of the gastrointestinal tract, Edema, Abdominal pain, Malabsorption, Diarrhea, Dyspha...	ORPHA:2070
Dural Sinus Malformation	Cerebral hemorrhage, Subarachnoid hemorrhage, Myelopathy, Cerebellar hemorrhage, Subdural hemorrh...	ORPHA:97339
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Retinal telangiectasia, Esophageal varix, Prema...	OMIM:617341
Hypermanganesemia With Dystonia 2	Generalized dystonia, Dystonia, Parkinsonism, Limb joint contracture, Elevated circulating creati...	OMIM:617013
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Colitis, Enterocolitis, Crohn's disease	OMIM:613148
Hyperphenylalaninemia, Bh4-Deficient, B	Progressive neurologic deterioration, Hyperphenylalaninemia, Tremor, Rigidity, Choreoathetosis, I...	OMIM:233910
Congenital Enterocyte Heparan Sulfate Deficiency	Edema, Abdominal distention, Diarrhea, Dehydration, Hematochezia, Protein-losing enteropathy	ORPHA:103910
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag...	ORPHA:99827
Optic Atrophy 1	Pallor	OMIM:165500
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Dermatitis, Atopic	Dry skin, Pallor, Facial erythema	OMIM:603165
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Death in infancy, Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Poly...	OMIM:243150
Polymyositis	Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar...	ORPHA:732
Wyburn-Mason Syndrome	Peripheral arteriovenous fistula, Epistaxis, Subarachnoid hemorrhage, Abnormal cerebral vascular ...	ORPHA:53719
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Elevate...	OMIM:612953
Hemophilia B	Abnormal bleeding, Joint hemorrhage, Gastrointestinal hemorrhage, Persistent bleeding after trauma	OMIM:306900
Encephalopathy, Ethylmalonic	Death in infancy, Chronic diarrhea, Feeding difficulties, Acrocyanosis, Petechiae	OMIM:602473
Benign Paroxysmal Torticollis Of Infancy	Pallor	ORPHA:71518
Gray Platelet Syndrome	Abnormal bleeding, Bruising susceptibility, Epistaxis	ORPHA:721
Methanol Poisoning	Myocardial infarction, Cerebral hemorrhage, Inflammatory arteriopathy, Permanent atrial fibrillat...	ORPHA:31825
Sneddon Syndrome	Hypertension, Stroke, Ischemic stroke, Cerebral hemorrhage	OMIM:182410
Primary Angiitis Of The Central Nervous System	Intracranial hemorrhage, Stroke, Transient ischemic attack, Cerebral vasculitis	ORPHA:140989
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Bruising susceptibility, Persistent bleeding after trauma, Epistaxis, Petechiae	OMIM:300367
Deafness-Lymphedema-Leukemia Syndrome	Intracranial hemorrhage, Prolonged bleeding time, Bruising susceptibility, Chronic otitis media	ORPHA:3226
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Hepatosplenomegaly, Weight loss, Hypoalbuminemia, Thrombocytosis, Ane...	OMIM:209950
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Hypercholesterolemia, Ataxia, Hypoalbuminemia	OMIM:607250
Citrullinemia Type Ii	Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Confusion, T...	ORPHA:247585
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Typhoid	Gastrointestinal hemorrhage, Epistaxis, Cardiac arrest, Abdominal pain, Diarrhea, Constipation, A...	ORPHA:99745
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Postural tremor, Action tremor, Gait ataxia, Normochromic anemia, Hypoalbuminemia, Myoclonus, Men...	OMIM:254900
Infantile Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Chorea, Dysmetria, Clumsiness, Poor fine motor coordination, Dementia, Myoclonus,...	ORPHA:79263
Focal Segmental Glomerulosclerosis 1	Hyperlipidemia, Hypoalbuminemia, Anemia	OMIM:603278
Stormorken-Sjaastad-Langslet Syndrome	Purpura	ORPHA:3204
Hyperinsulinism Due To Ucp2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276556
Breath-Holding Spells	Pallor	OMIM:607578
Drug-Induced Lupus Erythematosus	Pericardial effusion, Pericarditis, Prolonged QTc interval, Petechiae	ORPHA:231111
Shigellosis	Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Dehydration, Bloody d...	ORPHA:810
Spinocerebellar Ataxia 50	Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor	OMIM:620158
Pseudo-Torch Syndrome 2	Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Bradycardia, Pleura...	OMIM:617397
Al Amyloidosis	Gastrointestinal hemorrhage, Abnormal EKG, Postural hypotension with compensatory tachycardia, Ab...	ORPHA:85443
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Gerstmann-Straussler Disease	Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Depression, ...	OMIM:137440
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome	Cerebral hemorrhage, Dilated cardiomyopathy, Hypertension, Ischemic stroke, Coronary artery ather...	ORPHA:280679
Malignant Atrophic Papulosis	Gastrointestinal hemorrhage, Intestinal fistula, Nausea and vomiting, Telangiectasia of the skin,...	ORPHA:679
Nephrotic Syndrome, Type 2	Hyperlipidemia, Hypoalbuminemia	OMIM:600995
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Small for gestational age, Anemia, Increased ...	OMIM:617021
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch...	OMIM:301310
Parkinson Disease 2, Autosomal Recessive Juvenile	Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:600116
Congenital Sialidosis Type 2	Abnormal EKG, Edema, Telangiectasia, Abnormal heart morphology, Umbilical hernia, Ascites, Petechiae	ORPHA:93400
Spinocerebellar Ataxia With Epilepsy	Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer...	ORPHA:254881
Desmoid Tumor	Gastrointestinal hemorrhage, Intestinal polyposis, Intestinal obstruction, Malabsorption, Abdomin...	ORPHA:873
Interstitial Granulomatous Dermatitis With Arthritis	Inflammatory abnormality of the skin, Rheumatoid factor positive, Rheumatoid arthritis	ORPHA:79099
Stuve-Wiedemann Syndrome 2	Congestive heart failure, Death in adolescence, Pulmonary arterial hypertension, Stillbirth, Dysp...	OMIM:619751
Perry Syndrome	Parkinsonism, Tremor, Depression, Weight loss, Dementia, Abnormality of extrapyramidal motor func...	ORPHA:178509
Hermansky-Pudlak Syndrome 3	Abnormal bleeding, Spontaneous, recurrent epistaxis, Gingival bleeding, Bruising susceptibility, ...	OMIM:614072
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276575
Psoriasis 1, Susceptibility To	Arthritis, Psoriasiform dermatitis	OMIM:177900
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Pallor	ORPHA:2786
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Decreased se...	OMIM:612736
Aceruloplasminemia	Decreased circulating ceruloplasmin concentration, Tremor, Chorea, Gait ataxia, Elevated hepatic ...	ORPHA:48818
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Elevated circulating creatine kinase concentration, Tremor, Dementia, Tongue fasciculations, Myoc...	OMIM:159950
Burkitt Lymphoma	Gastrointestinal hemorrhage, Abdominal pain, Intestinal obstruction, Nausea and vomiting	ORPHA:543
Familial Hemophagocytic Lymphohistiocytosis	Jaundice, Colitis, Decreased liver function, Ecchymosis, Bruising susceptibility, Petechiae, Purpura	ORPHA:540
Inherited Creutzfeldt-Jakob Disease	Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr...	ORPHA:282166
Fibronectin Glomerulopathy	Hypertension, Cerebral hemorrhage	ORPHA:84090
Systemic Lupus Erythematosus, Susceptibility To, 6	Pericarditis, Antinuclear antibody positivity, Systemic lupus erythematosus, Arthritis, Malar rash	OMIM:609939
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Tachycardia, Syncope, Palpitations, Pallor, Hypertrophic cardiomyopathy	ORPHA:276580
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Abnormal endocardium morphology, Angina pectoris, Telangiectasia of ...	ORPHA:758
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Weight loss, Anemia, Leukopenia, Hypo...	ORPHA:507
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Intestinal polyposis, Transient ischemi...	ORPHA:774
Spontaneous Periodic Hypothermia	Arrhythmia, Pallor	ORPHA:29822
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Hypertrophic cardiomyopathy, Pallor	OMIM:613561
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Congestive heart failure, Retinal hemorrhage, Renov...	OMIM:264800
Mpi-Cdg	Gastrointestinal hemorrhage, Portal hypertension, Edema, Diarrhea, Protein-losing enteropathy, Vo...	ORPHA:79319
Nephrotic Syndrome, Type 15	Hypoalbuminemia	OMIM:617609
Spinocerebellar Ataxia 18	Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia	OMIM:607458
Leber Congenital Amaurosis 14	Pallor	OMIM:613341
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dystonia, Oculomotor apraxia, S...	OMIM:612716
Congenital Dyserythropoietic Anemia Type Iii	Anisocytosis, Abnormal erythrocyte morphology, Increased mean corpuscular volume, Increased serum...	ORPHA:98870
Juvenile Dermatomyositis	Gastrointestinal hemorrhage, Bundle branch block, Pericarditis, Angina pectoris, Palpebral edema,...	ORPHA:93672
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Limb dysmetria	ORPHA:363710
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Menkes Disease	Intracranial hemorrhage, Cutis laxa, Death in childhood	OMIM:309400
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Pallor	ORPHA:276608
Bone Marrow Failure Syndrome 6	Osteopenia, Persistence of hemoglobin F, Increased mean corpuscular volume, Neutropenia, Lymphope...	OMIM:618849
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Descending thoracic aorta aneurysm, Abnormal left ventricular function, Abdominal aortic aneurysm...	ORPHA:91387
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog...	ORPHA:70594
Parkinsonism-Dystonia 3, Childhood-Onset	Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A...	OMIM:619738
Coenzyme Q10 Deficiency, Primary, 9	Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus	OMIM:619028
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus, Hepatosplenomegaly, Myoclonus, Mental ...	ORPHA:2590
Aggressive Systemic Mastocytosis	Gastrointestinal hemorrhage, Portal hypertension, Anorexia, Abdominal pain, Malabsorption, Diarrh...	ORPHA:98850
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi...	OMIM:615157
Neuroferritinopathy	Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d...	ORPHA:157846
Quebec Platelet Disorder	Epistaxis, Menorrhagia, Bruising susceptibility, Joint hemorrhage, Impaired epinephrine-induced p...	OMIM:601709
Hemiparkinsonism-Hemiatrophy Syndrome	Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia	ORPHA:306669
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Peutz-Jeghers Syndrome	Gastrointestinal hemorrhage, Abnormality of the gastrointestinal tract, Neoplasm of the colon, In...	ORPHA:2869
Dentinogenesis Imperfecta	Prolonged bleeding time, Bruising susceptibility	ORPHA:49042
Pseudo-Torch Syndrome 1	Patent ductus arteriosus, Jaundice, Decreased liver function, Umbilical hernia, Patent foramen ov...	OMIM:251290
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Edema, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal...	OMIM:192315
Essential Thrombocythemia	Prolonged bleeding time	ORPHA:3318
Myoclonic-Atonic Epilepsy	Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus	OMIM:616421
Chylomicron Retention Disease	Decreased LDL cholesterol concentration, Hypoalbuminemia, Hypotriglyceridemia, Hypocholesterolemi...	OMIM:246700
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Transient ischemic attack, Cerebra...	OMIM:610655
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Abnormal bleeding, Small intestinal polyposis, Duodenal polyposis, Anemic pallor, Edema, Rectal p...	ORPHA:329971
Hypermanganesemia With Dystonia 1	Dystonia, Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordi...	OMIM:613280
Hyperinsulinism Due To Hnf1A Deficiency	Tachycardia, Syncope, Palpitations, Pallor	ORPHA:324575
Extracranial Carotid Artery Aneurysm	Subarachnoid hemorrhage, Vasculitis, Arteriosclerosis, Hypertension, Cerebral ischemia, Arteritis...	ORPHA:494424
Juvenile Polyposis Of Infancy	Abnormal bleeding, Gastrointestinal hemorrhage, Abdominal pain, Patent ductus arteriosus, Rectal ...	ORPHA:79076
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Edema, Abdominal pain, Abnormal gastric mucosa morphology, D...	ORPHA:263665
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Intestinal obstruction, Portal hypertension, ...	ORPHA:131
Acquired Aneurysmal Subarachnoid Hemorrhage	Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Hypertension, Syncope, Isch...	ORPHA:90065
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Patent ductus arteriosus, Coarctation of aorta	OMIM:601612
Triokinase And Fmn Cyclase Deficiency Syndrome	Failure to thrive in infancy, Hypoalbuminemia, Microcytic anemia	OMIM:618805
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait	OMIM:600363
Classic Phenylketonuria	Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity...	ORPHA:79254
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Beta-Propeller Protein-Associated Neurodegeneration	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis	ORPHA:329284
Achalasia, Familial Esophageal	Keratoconjunctivitis sicca, Rheumatoid arthritis	OMIM:200400
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dysmetria, Gait ataxia	OMIM:618387
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Nausea and vomiting, Portal hypertension, Lymphedema, Abdominal pain...	ORPHA:1414
Acys Amyloidosis	Death in early adulthood, Stroke, Cerebral hemorrhage	ORPHA:100008
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Drug-Induced Autoimmune Hemolytic Anemia	Congestive heart failure, Tachycardia, Pallor	ORPHA:90037
Hb Bart'S Hydrops Fetalis	Congestive heart failure, Pericarditis, Pallor	ORPHA:163596
Adams-Oliver Syndrome	Encephalocele, Gastrointestinal hemorrhage, Cutis marmorata, Abnormal pulmonary valve morphology,...	ORPHA:974
Cinca Syndrome	Urticaria, Nausea and vomiting, Edema, Purpura	ORPHA:1451
Cyclic Vomiting Syndrome	Cardiomyopathy, Pallor	OMIM:500007
Hepatoportal Sclerosis	Abnormal bleeding, Gastrointestinal hemorrhage, Portal hypertension, Jaundice, Esophageal varix, ...	ORPHA:64743
Bile Acid Synthesis Defect, Congenital, 4	Hematochezia, Prolonged prothrombin time, Prolonged neonatal jaundice, Fat malabsorption, Hepatic...	OMIM:214950
Spinocerebellar Ataxia 42	Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp...	OMIM:616795
Neurodegeneration With Brain Iron Accumulation 7	Lower limb spasticity, Ataxia, Tremor, Dysmetria, Increased circulating very long-chain fatty aci...	OMIM:617916
Pseudoxanthoma Elasticum-Like Disorder With Multiple Coagulation Factor Deficiency	Abnormal bleeding, Prolonged prothrombin time, Epistaxis	OMIM:610842
Erythrocytosis, Familial, 2	Cerebral hemorrhage, Varicose veins, Stroke, Hypotension, Pulmonary arterial hypertension	OMIM:263400
Leukocyte Adhesion Deficiency, Type Iii	Abnormal bleeding, Epistaxis, Petechiae	OMIM:612840
Abeta Amyloidosis, Dutch Type	Death in early adulthood, Stroke, Cerebral hemorrhage	ORPHA:100006
Hemophilia A	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Muscle hemorrhage	OMIM:306700
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Polycythemia Vera	Gastrointestinal hemorrhage, Cerebral ischemia, Budd-Chiari syndrome, Cerebral hemorrhage	OMIM:263300
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Anorexia, Abdominal pain, Malabsorption, Diarrhea, Xerostomia, Hematochezia, Hamartomatous polypo...	OMIM:175500
Alg6-Cdg	Failure to thrive, Ataxia, Hypoalbuminemia, Decreased LDL cholesterol concentration	ORPHA:79320
Hemoglobin D Disease	Pallor	ORPHA:90039
Oligoarticular Juvenile Idiopathic Arthritis	Autoimmunity, Antinuclear antibody positivity, Knee osteoarthritis, Oligoarthritis, Uveitis, Abno...	ORPHA:85410
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Small for gestational age, Ataxia	OMIM:278780
Aicardi-Goutieres Syndrome 9	Hemolytic anemia, Spastic tetraparesis, Osteoporosis, Spastic tetraplegia, Spastic diplegia, Weig...	OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesit...	OMIM:300055
Focal Segmental Glomerulosclerosis 6	Hypoalbuminemia	OMIM:614131
Nephrotic Syndrome, Type 9	Hypoalbuminemia	OMIM:615573
Q Fever	Pericarditis, Abnormal heart valve morphology, Anorexia, Pericardial effusion, Myocarditis, Vascu...	ORPHA:781
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency	Bruising susceptibility, Arterial rupture	ORPHA:300179
Primary Lateral Sclerosis, Juvenile	Pallor	OMIM:606353
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Lower limb spasticity, Resting tremor, Parkinsonism, Tremor, Abnormal fear-induced behavior, Obes...	ORPHA:3077
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Petechiae, Purpura	OMIM:605432
Ethylmalonic Encephalopathy	Diarrhea, Acrocyanosis, Petechiae	ORPHA:51188
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em...	ORPHA:542310
Congenital Lethal Erythroderma	Failure to thrive, Hypoalbuminemia	ORPHA:1954
Livedoid Vasculopathy	Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Pedal edema, Skin ulcer, Hyperte...	ORPHA:542643
Systemic Lupus Erythematosus	Pericarditis, Antiphospholipid antibody positivity, Lupus nephritis, Antinuclear antibody positiv...	OMIM:152700
Coenzyme Q10 Deficiency, Primary, 3	Hypoalbuminemia	OMIM:614652
Congenital Disorder Of Glycosylation, Type Iif	Aortic regurgitation, Decreased platelet glycoprotein Ib, Subcutaneous hemorrhage, Pulmonary hemo...	OMIM:603585
Tempi Syndrome	Intracranial hemorrhage, Facial erythema, Telangiectasia	ORPHA:284227
Familial Focal Epilepsy With Variable Foci	Pallor	ORPHA:98820
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Ataxia, Megaloblastic anemia, Eyelid myoclonus, Increased mean corpuscular volume, ...	OMIM:613839
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a...	ORPHA:1170
Diarrhea 10, Protein-Losing Enteropathy Type	Death in infancy, Polyhydramnios, Pericardial effusion, Secretory diarrhea, Feeding difficulties,...	OMIM:618183
X-Linked Sideroblastic Anemia	Pallor	ORPHA:75563
Erythrocytosis, Familial, 1	Hypertension, Cerebral hemorrhage, Myocardial infarction	OMIM:133100
Diamond-Blackfan Anemia 8	Macrocytic anemia, Increased mean corpuscular volume, Neutropenia	OMIM:612563
Wilson Disease	Decreased circulating ceruloplasmin concentration, Tremor, Hand tremor, Hypoalbuminemia, Limb dys...	OMIM:277900
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Limb ataxia,...	ORPHA:101
Myelofibrosis	Pallor, Purpura	OMIM:254450
Wiskott-Aldrich Syndrome	Prolonged bleeding time, Epistaxis, Hematemesis, Diarrhea, Chronic diarrhea, Large vessel vasculi...	OMIM:301000
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Pericardial effusion, Subconjunctival hemorrha...	ORPHA:464329
Congenital Analbuminemia	Lipodystrophy, Small for gestational age, Hyperlipidemia, Obesity, Increased alpha-globulin, Hypo...	ORPHA:86816
Bone Marrow Failure And Diabetes Mellitus Syndrome	Pancytopenia, Increased mean corpuscular volume, T-cell acute lymphoblastic leukemias	OMIM:620044
Boutonneuse Fever	Abdominal pain, Diarrhea, Vasculitis, Nausea, Petechiae	ORPHA:83313
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Nausea and vomiting, Pericarditis, Recurrent intrapulmonary hemorrha...	ORPHA:900
Methylcobalamin Deficiency Type Cble	Hypomethioninemia, Macrocytic anemia, Pancytopenia, Osteoporosis, Hyperhomocystinemia, Lower limb...	ORPHA:2169
Diamond-Blackfan Anemia 3	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume, Reticulocytopenia	OMIM:610629
Familial Hyperaldosteronism Type I	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:403
Autosomal Spastic Paraplegia Type 58	Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm...	ORPHA:397946
Spinocerebellar Ataxia 23	Tremor, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia	OMIM:610245
Hypophosphatasia, Infantile	Intracranial hemorrhage, Death in infancy, Stillbirth	OMIM:241500
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Cutis marmorata, Patent ductus arteriosus, Intrauterine growth retard...	ORPHA:1556
Immunodeficiency 81	Impaired collagen-induced platelet aggregation, Petechiae	OMIM:619374
Sea-Blue Histiocytosis	Abnormal bleeding, Petechiae, Edema	ORPHA:158029
Autoimmune Lymphoproliferative Syndrome, Type Iia	Gastrointestinal hemorrhage, Urticaria, Vasculitis, Petechiae	OMIM:603909
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect, Feeding difficulties, Reduced ...	OMIM:620203
Secondary Non-Traumatic Avascular Necrosis	Limitation of joint mobility, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:399180
Scorpion Envenomation	Bundle branch block, Tachycardia, Pulmonary edema, Edema, Cardiac conduction abnormality, Abdomin...	ORPHA:466677
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or...	ORPHA:420485
Pheochromocytoma--Islet Cell Tumor Syndrome	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Positive regit...	OMIM:171420
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Nausea, Abdominal pain, Hematemesis, Diarrhea, Capillary leak, Int...	ORPHA:340
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
Lymphatic Malformation 8	Nonimmune hydrops fetalis, Polyhydramnios, Pericardial effusion, Stillbirth, Pleural effusion, Ge...	OMIM:618773
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Abdominal pain, Periorbital edema, Chronic diarrhea, Chronic constip...	OMIM:142680
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v...	OMIM:187300
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat...	OMIM:607483
Familial Hyperaldosteronism Type Ii	Intracranial hemorrhage, Hypertension, Epistaxis	ORPHA:404
Neurocutaneous Melanocytosis	Intracranial hemorrhage, Death in infancy, Meningocele	ORPHA:2481
Neuroendocrine Tumor Of Stomach	Abnormal pulmonary valve cusp morphology, Anorexia, Poor appetite, Lack of bowel sounds, Bloody d...	ORPHA:100075
Pelizaeus-Merzbacher Disease	Psychomotor deterioration, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation,...	OMIM:312080
Lynch Syndrome	Gastrointestinal hemorrhage, Death in infancy, Death in early adulthood, Intestinal polyposis, Na...	ORPHA:144
Hydrops Fetalis	Abnormality of the gastrointestinal tract, Miscarriage, Nonimmune hydrops fetalis, Polyhydramnios...	ORPHA:1041
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Cerebral hemorrhage, Dilated cardiomyopathy, Stroke-like episode, Right aortic arch, Hypertension...	OMIM:300845
Galloway-Mowat Syndrome 8	Enamel hypoplasia, Hypoalbuminemia	OMIM:618349
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Medial calcification of large arteries, Angina pectoris, Premature o...	OMIM:177850
Griscelli Syndrome Type 2	Premature graying of hair, Jaundice, Petechiae, Nausea and vomiting	ORPHA:79477
Congenital Pulmonary Lymphangiectasia	Tricuspid regurgitation, Cyanosis, Congestive heart failure, Hydrops fetalis, Chylopericardium, G...	ORPHA:2414
Ebola Hemorrhagic Fever	Abnormal bleeding, Gastrointestinal hemorrhage, Poor appetite, Abdominal pain, Diarrhea, Melena, ...	ORPHA:319218
Parkes Weber Syndrome	Abnormal bleeding, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, Cerebral arterioven...	ORPHA:90307
Focal Facial Dermal Dysplasia Type Iv	Intracranial hemorrhage	ORPHA:398189
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Spastic ataxia, Hypomethioninemia, Methylmalonic acidemia, Megaloblastic anemia, Hyperhomocystine...	OMIM:277410
Vertical Talus, Congenital	Arthritis	OMIM:192950
Congenital Disorder Of Glycosylation, Type Ih	Elevated circulating creatinine concentration, Anemia, Hypoalbuminemia, Camptodactyly, Failure to...	OMIM:608104
Cardiomyopathy, Familial Hypertrophic, 4	First degree atrioventricular block, Cardiomegaly, Atrioventricular block, Left bundle branch blo...	OMIM:115197
Spinocerebellar Ataxia Type 27	Tremor, Hand tremor, Limb ataxia, Gait ataxia, Depression, Truncal ataxia, Memory impairment	ORPHA:98764
Glycosylphosphatidylinositol Biosynthesis Defect 15	Osteopenia, Tremor, Dysmetria, Gait ataxia, Apraxia, Spasticity	OMIM:617810
Neurodegeneration With Brain Iron Accumulation 4	Generalized dystonia, Ataxia, Parkinsonism, Elevated circulating creatine kinase concentration, T...	OMIM:614298
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Tremor, Babinski ...	OMIM:128100
Kufor-Rakeb Syndrome	Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg...	OMIM:606693
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Mirage Syndrome	Patent ductus arteriosus, Chronic diarrhea, Esophageal stricture, Intracranial hemorrhage, Gastro...	OMIM:617053
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Neoplasm of the stomach...	ORPHA:44890
22Q11.2 Deletion Syndrome	Polyhydramnios, Feeding difficulties in infancy, Anorectal anomaly, Gastroesophageal reflux, Atri...	ORPHA:567
Bile Acid Synthesis Defect, Congenital, 3	Jaundice, Diarrhea, Hematochezia, Prolonged prothrombin time, Steatorrhea, Hepatic failure	OMIM:613812
Lethal Congenital Contracture Syndrome 5	Death in infancy, Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Rajab Interstitial Lung Disease With Brain Calcifications 2	Hepatosplenomegaly, Hypertriglyceridemia, Hypoalbuminemia, Microcytic anemia	OMIM:619013
Monosomy 13Q34	Epistaxis, Hematochezia, Prolonged prothrombin time, Pulmonic stenosis, Common atrium	ORPHA:96168
Familial Hyperaldosteronism Type Iii	Prolonged QT interval, Hypertension, Epistaxis, Intracranial hemorrhage	ORPHA:251274
Chronic Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir...	ORPHA:529808
Acute Bilirubin Encephalopathy	Hemolytic anemia, Cerebral palsy, Hypertonia, Hypoalbuminemia, Hypernatremia, Neonatal hyperbilir...	ORPHA:529799
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Decreased HDL cholesterol concentration, Hypoalbuminemia, Hyperthreoninemia, Abnormal circulating...	ORPHA:247598
Primary Membranoproliferative Glomerulonephritis	Hypoalbuminemia	ORPHA:54370
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Gastrointestinal arteriovenous malformation, ...	OMIM:600376
Leukodystrophy, Hypomyelinating, 11	Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive	OMIM:616494
Neuroendocrine Tumor Of The Colon	Tricuspid regurgitation, Abnormal pulmonary valve cusp morphology, Anorexia, Right ventricular fa...	ORPHA:100080
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Periostosis, Hyperostosis, Hypoalbuminemia	OMIM:614441
Sporadic Pheochromocytoma/Secreting Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:276621
Nephrosialidosis	Pericardial effusion, Ascites, Death in childhood	OMIM:256150
Beta-Thalassemia	Hypertrophic cardiomyopathy, Pallor, Skin ulcer	ORPHA:848
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti...	OMIM:619725
Immunodeficiency 43	Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemia, Reduced nat...	OMIM:241600
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Irritability, H...	ORPHA:292
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia	OMIM:617836
Spinocerebellar Ataxia, Autosomal Recessive 30	Increased serum pyruvate, Ataxia, Elevated circulating creatine kinase concentration, Tremor, Dys...	OMIM:619405
Classical Ehlers-Danlos Syndrome	Rectal prolapse, Vomiting, Gastroesophageal reflux, Ecchymosis, Acrocyanosis, Nausea, Prolonged b...	ORPHA:287
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Ataxia, Dysmetria	OMIM:617917
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Cutis marmorata, Portal hypertension, Abdominal pain, Raynaud phenomenon, Vasculitis, Dilated car...	OMIM:615688
American Trypanosomiasis	Myocarditis, Congestive heart failure, Cardiomyopathy, Pallor, Arrhythmia	ORPHA:3386
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Spasticity	OMIM:213200
Prolidase Deficiency	Skin ulcer, Diffuse telangiectasia, Petechiae, Prolonged neonatal jaundice	OMIM:170100
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Anorexia, Abdominal pain, Myoca...	ORPHA:3452
Rheumatic Fever	Pericarditis, Epistaxis, Myocarditis, Erythema, Pallor, Arrhythmia	ORPHA:3099
Autoimmune Hepatitis	Gastrointestinal hemorrhage, Spider hemangioma, Abdominal pain, Jaundice, Fulminant hepatitis, Ul...	ORPHA:2137
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular volume	OMIM:300946
Ehlers-Danlos Syndrome, Cardiac Valvular Type	Aortic regurgitation, Mitral regurgitation, Bruising susceptibility, Mitral valve prolapse	OMIM:225320
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Marburg Hemorrhagic Fever	Anorexia, Odynophagia, Dehydration, Bloody diarrhea, Vomiting, Nausea, Internal hemorrhage, Abnor...	ORPHA:99826
Overhydrated Hereditary Stomatocytosis	Hemolytic anemia, Reticulocytosis, Splenomegaly, Stomatocytosis, Increased mean corpuscular volum...	OMIM:185000
Osteogenesis Imperfecta, Type Xvi	Prolonged bleeding time, Bruising susceptibility	OMIM:616229
Bacterial Toxic-Shock Syndrome	Shock, Tachycardia, Edema, Abdominal pain, Myocarditis, Diarrhea, Peritonitis, Capillary leak, Vo...	ORPHA:36234
Galloway-Mowat Syndrome 6	Hypoalbuminemia, Decreased body weight	OMIM:618347
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Epistaxis, Intracranial hemorrhage, Hypertension, Palpitations, Abnormal T-wave	ORPHA:231625
X-Linked Dystonia-Parkinsonism	Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi...	ORPHA:53351
Radiation Proctitis	Intestinal obstruction, Rectal fistula, Diarrhea, Abnormal gastrointestinal vascular morphology, ...	ORPHA:70475
Reni Syndrome	Hypertriglyceridemia, Ataxia, Hypoalbuminemia, Mental deterioration, Lymphopenia	OMIM:617575
Macs Syndrome	Prolonged bleeding time, Bruising susceptibility, Bronchiectasis, Recurrent aphthous stomatitis	OMIM:613075
Myopathy With Extrapyramidal Signs	Extremely elevated creatine kinase, Ataxia, Clonus, Elevated circulating creatine kinase concentr...	OMIM:615673
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Hereditary Mixed Polyposis Syndrome	Abnormal bleeding, Juvenile colonic polyposis, Rectal polyposis, Adenomatous colonic polyposis, D...	ORPHA:157794
Idiopathic Pulmonary Hemosiderosis	Pallor, Heart murmur, Diffuse alveolar hemorrhage	ORPHA:99931
Hatipoglu Immunodeficiency Syndrome	Poor wound healing, Feeding difficulties, Premature graying of hair, Intrauterine growth retardat...	OMIM:620331
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Macular edema,...	ORPHA:247691
Rheumatoid Arthritis	Rheumatoid factor positive, Joint stiffness, Anti-citrullinated protein antibody positivity, Join...	OMIM:180300
Neurodegeneration With Brain Iron Accumulation 5	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det...	OMIM:300894
Epilepsy, Familial Adult Myoclonic, 2	Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment	OMIM:607876
Isovaleric Acidemia	Cerebellar hemorrhage	OMIM:243500
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t...	ORPHA:199351
Ataxia With Vitamin E Deficiency	Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H...	ORPHA:96
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Epistaxis, Intracranial hemorrhage, Hypertension, Second degree atrioventricular block, Pulmonary...	ORPHA:369929
Dyskeratosis Congenita, Autosomal Recessive 8	Esophageal stricture, Pancolitis, Inflammation of the large intestine, Intrauterine growth retard...	OMIM:620133
Behr Syndrome	Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Dysmetria, Adductor longus contractur...	OMIM:210000
Mitochondrial Complex Iv Deficiency, Nuclear Type 12	Death in infancy, Intraventricular hemorrhage, Death in adolescence, Prolonged prothrombin time, ...	OMIM:619055
Congenital Disorder Of Glycosylation, Type Ia	Osteopenia, Ataxia, Tremor, Abnormal subcutaneous fat tissue distribution, Flexion contracture, D...	OMIM:212065
S-Adenosylhomocysteine Hydrolase Deficiency	Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho...	ORPHA:88618
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Poor wound healing, Arterial rupture, Atrial septal defect, Bruising susceptibility, Dermal trans...	OMIM:619115
Subcorneal Pustular Dermatosis	Pustule, Autoimmunity, Rheumatoid arthritis, Systemic lupus erythematosus	ORPHA:48377
Aicardi-Goutieres Syndrome 7	Atrophic gastritis, Edema, Pericardial effusion, Hematemesis, Diarrhea, Vasculitis, Bloody diarrh...	OMIM:615846
Pseudo-Torch Syndrome 3	Hypertension, Cerebral hemorrhage, Death in infancy	OMIM:618886
Acquired Idiopathic Sideroblastic Anemia	Abnormal bleeding, Congestive heart failure, Pallor	ORPHA:75564
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Spastic ataxia, Tremor, Babinski sign, Slurred speech, Flexion contracture, Clumsiness, Poor fine...	ORPHA:137898
Autoimmune Hemolytic Anemia, Warm Type	Congestive heart failure, Tachycardia, Pallor	ORPHA:90033
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Abdominal pain, Gastrointestinal stroma tumo...	ORPHA:97286
Cardiomyopathy, Dilated, 1A	Atrial flutter, Atrial fibrillation, First degree atrioventricular block, Sudden cardiac death, P...	OMIM:115200
Retinitis Pigmentosa 51	Pallor	OMIM:613464
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Abnormal circulating biopterin concentration, Oculogyric crisis, Parkinsonism, Tr...	ORPHA:1578
Primary Effusion Lymphoma	Pericardial effusion, Abdominal distention, Pleural effusion, Abdominal pain	ORPHA:48686
Ddost-Cdg	Osteopenia, Lipodystrophy, Tremor, Oromotor apraxia, Failure to thrive	ORPHA:300536
Zygomycosis	Periorbital edema, Unusual gastrointestinal infection, Colitis, Vomiting, Nausea, Abdominal pain,...	ORPHA:73263
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Feeding difficulties, Pleural effusion, Bradycardia, Intraute...	OMIM:614702
Mixed-Type Autoimmune Hemolytic Anemia	Tachycardia, Pallor	ORPHA:90036
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation	Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a...	ORPHA:300751
Thrombocytopenia 1	Bruising susceptibility, Joint hemorrhage, Epistaxis, Petechiae	OMIM:313900
Juvenile Polyposis Syndrome	Neoplasm of the stomach, Abdominal pain, Diarrhea, Rectal prolapse, Multiple gastric polyps, Hema...	OMIM:174900
Abetalipoproteinemia	Osteopenia, Reticulocytosis, Decreased HDL cholesterol concentration, Ataxia, Acanthocytosis, Upp...	ORPHA:14
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Hyperbilir...	ORPHA:713
Cushing Disease	Plethora, Dorsocervical fat pad, Myocardial infarction, Poor wound healing, Pedal edema, Skin ulc...	ORPHA:96253
Zika Virus Disease	Miscarriage, Edema, Vomiting, Intrauterine growth retardation, Subcutaneous hemorrhage	ORPHA:448237
Mohr-Tranebjaerg Syndrome	Generalized dystonia, Dystonia, Tremor, Babinski sign, Abnormal pyramidal sign, Mental deteriorat...	ORPHA:52368
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Gait ataxia, Choreoathetosis, Bradykin...	OMIM:618877
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2	Bruising susceptibility, Arterial rupture, Poor wound healing, Dermal translucency	OMIM:619120
20Q13.33 Microdeletion Syndrome	Atrial septal defect, Abnormal cardiac ventricle morphology, Hematochezia, Oligohydramnios	ORPHA:261311
Kasabach-Merritt Syndrome	Abdominal pain, Abdominal distention, Prolonged prothrombin time, Hepatic hemangioma, Petechiae, ...	ORPHA:2330
Primary Intestinal Lymphangiectasia	Hypoproteinemia, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Decreased proportion...	ORPHA:90362
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Myoclonus, Attentio...	ORPHA:442835
Hermansky-Pudlak Syndrome 2	Prolonged bleeding time, Impaired ADP-induced platelet aggregation, Recurrent pneumonia, Periodon...	OMIM:608233
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Hypertension, Diarrhea, Purpura	OMIM:235400
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Tremor, Fasciculations, Elevated circulating creatine kinase concentration	OMIM:313200
Attenuated Chédiak-Higashi Syndrome	Bruising susceptibility, Epistaxis, Skin ulcer, Gingival bleeding	ORPHA:352723
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, Ab...	ORPHA:537
Osteopetrosis, Autosomal Recessive 4	Petechiae	OMIM:611490
Acute Generalized Exanthematous Pustulosis	Facial edema, Skin vesicle, Scaling skin, Purpura	ORPHA:293173
Carney Triad	Gastrointestinal hemorrhage, Nausea and vomiting, Tachycardia, Anorexia, Abdominal pain, Gastroin...	ORPHA:139411
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Acute hepatic failure, Nausea and vomiting, Sudden cardiac death, My...	ORPHA:36426
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Abnormal circulating selenium concentration, Decreased serum iron, Flexion contracture, Depressio...	ORPHA:89842
Nephrotic Syndrome, Type 1	Hypoproteinemia, Hyperlipidemia, Small for gestational age, Hypoalbuminemia	OMIM:256300
Diamond-Blackfan Anemia 6	Persistence of hemoglobin F, Failure to thrive, Macrocytic anemia, Increased mean corpuscular volume	OMIM:612561
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Melena, Fundic gland polyposis, Gastric adenocarcinoma, Abdominal pain	OMIM:619182
Squamous Cell Carcinoma Of The Anal Canal	Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, Neoplasm of the liver, Intes...	ORPHA:424019
Ehlers-Danlos Syndrome, Periodontal Type, 1	Prominent superficial veins, Poor wound healing, Hiatus hernia, Intestinal perforation, Gingival ...	OMIM:130080
Spondyloarthropathy, Susceptibility To, 1	Anterior uveitis, Psoriasiform dermatitis, Oligoarthritis, Enthesitis, Inflammation of the large ...	OMIM:106300
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Nausea and vomiting, Neoplasm of the colon, Abdominal pain, Malabsor...	ORPHA:440437
Dermatosparaxis Ehlers-Danlos Syndrome	Prolonged bleeding time, Esophagitis	ORPHA:1901
Acute Liver Failure	Abnormal bleeding, Gastrointestinal hemorrhage, Shock, Jaundice, Diarrhea, Hepatic necrosis, Hepa...	ORPHA:90062
Brucellosis	Abnormality of the gastrointestinal tract, Pericarditis, Transient ischemic attack, Miscarriage, ...	ORPHA:1304
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Anorexia, Abdominal pain, Raynaud phenome...	ORPHA:48435
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy	Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Hypoproteinemia, Anemia	OMIM:226300
Cystathioninuria	Tremor, Cystathioninemia	ORPHA:212
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity	OMIM:176500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Ankle swelling, Joint stiffness, Antinuclear antibody positivity, Iridocyclitis, Knee osteoarthri...	ORPHA:85408
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1	Bruising susceptibility, Poor wound healing	OMIM:130060
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Abdominal pain, Congestive heart failure, Dilated cardiomyopathy, Chronic diarrhea, Hematochezia,...	OMIM:615895
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Pericarditis, Skin rash, Autoimmunity, Joint swelling, Juvenile rheumatoid arth...	ORPHA:85414
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Esophageal varix, Intracranial hemorrh...	ORPHA:394
Leukodystrophy, Hypomyelinating, 6	Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612438
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas...	ORPHA:240071
Pyruvate Dehydrogenase Deficiency	Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx...	ORPHA:765
Perry Syndrome	Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Weight loss, Bradykinesia, Depression, D...	OMIM:168605
Lmna-Related Cardiocutaneous Progeria Syndrome	Congestive heart failure, Intracranial hemorrhage, Hypertension, Mitral regurgitation, Aortic ath...	ORPHA:363618
Hermansky-Pudlak Syndrome 11	Epistaxis, Menorrhagia, Gingival bleeding, Impaired collagen-induced platelet aggregation, Bruisi...	OMIM:619172
Ehlers-Danlos Syndrome, Classic Type, 1	Poor wound healing, Mitral valve prolapse, Umbilical hernia, Bruising susceptibility, Fragile ski...	OMIM:130000
Thrombocytopenia 3	Epistaxis, Petechiae	OMIM:273900
Wolcott-Rallison Syndrome	Hyponatremia, Neutropenia, Hyperammonemia, Iron deficiency anemia, Hypoalbuminemia, Lymphocytosis...	ORPHA:1667
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Palpitations, Pallor, Positive regitine blocking t...	ORPHA:29072
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy...	OMIM:242150
Nephrotic Syndrome, Type 3	Hypoalbuminemia	OMIM:610725
Joubert Syndrome 14	Intracranial hemorrhage, Hypertension, Encephalocele, Meningocele	OMIM:614424
Adult-Onset Distal Myopathy Due To Vcp Mutation	Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,...	ORPHA:329478
Anemia, Congenital Dyserythropoietic, Type Ib	Pallor	OMIM:615631
Relapsing Polychondritis	Abnormal endocardium morphology, Pericarditis, Myocarditis, Erythema, Large vessel vasculitis, Ab...	ORPHA:728
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Osteopenia, Tremor, Osteoporosis, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity	ORPHA:529665
Nephrotic Syndrome, Type 6	Hypoalbuminemia	OMIM:614196
Acyl-Coa Dehydrogenase 9 Deficiency	Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, Pr...	ORPHA:99901
Infantile Liver Failure Syndrome 2	Prolonged prothrombin time, Hyperammonemia	OMIM:616483
Stormorken Syndrome	Abnormal bleeding, Epistaxis, Subarachnoid hemorrhage, Stroke-like episode, Bruising susceptibility	OMIM:185070
Vipoma	Nausea and vomiting, Anorexia, Poor appetite, Malabsorption, Erythema, Secretory diarrhea, Dehydr...	ORPHA:97282
Parkinson Disease, Late-Onset	Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia	OMIM:168600
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Prolonged prothrombin time, Elevated circulating a...	OMIM:617049
Rin2 Syndrome	Umbilical hernia, Bruising susceptibility, Redundant skin, Upper eyelid edema	ORPHA:217335
Progressive Supranuclear Palsy	Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dyston...	ORPHA:683
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Ppoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97278
Aspergillosis	Intracranial hemorrhage, Stroke	ORPHA:1163
Myopathic Ehlers-Danlos Syndrome	Pallor	ORPHA:536516
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia	ORPHA:79095
Pheochromocytoma	Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Renal artery s...	OMIM:171300
Menkes Disease	Gastrointestinal hemorrhage, Nausea and vomiting, Malabsorption, Feeding difficulties in infancy,...	ORPHA:565
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Subdural hemorrhage	OMIM:618291
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency	Pallor, Death in childhood	OMIM:246450
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Reduced bone mineral den...	OMIM:617052
Tyrosinemia, Type I	Gastrointestinal hemorrhage, Acute hepatic failure, Hepatic failure, Melena, Paralytic ileus, Pro...	OMIM:276700
Generalized Pustular Psoriasis	Hyponatremia, Elevated circulating C-reactive protein concentration, Overweight, Leukocytosis, Ob...	ORPHA:247353
Propionic Acidemia	Cardiomyopathy, Cerebellar hemorrhage	OMIM:606054
Alg1-Cdg	Hypoalbuminemia	ORPHA:79327
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Bloody diarrhea, Hematochezia, Subconjunctival hemorrhage, Inflammation of the large ...	OMIM:617718
Spondyloenchondrodysplasia With Immune Dysregulation	Raynaud phenomenon, Joint swelling, Purpura	OMIM:607944
Zollinger-Ellison Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Duodenal ulcer, Peptic ulcer, Jaundice, Eryt...	ORPHA:913
Juvenile Polyposis Syndrome	Small intestinal polyposis, Juvenile gastrointestinal polyposis, Edema, Hamartomatous polyposis, ...	ORPHA:2929
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Bruising susceptibility, Menorrhagia, Epistaxis	OMIM:614073
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Epistaxis, Anorexia, Abdominal pain, Malabsorptio...	ORPHA:79430
Ehlers-Danlos Syndrome, Classic-Like, 2	Prominent superficial veins, Prematurely aged appearance, Redundant skin, Poor wound healing, Mit...	OMIM:618000
Tarp Syndrome	Neonatal death, Tetralogy of Fallot, Subdural hemorrhage	OMIM:311900
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-homocystein...	OMIM:614300
Genetic Steroid-Resistant Nephrotic Syndrome	Irritability, Hypoalbuminemia	ORPHA:656
Dystonia 2, Torsion, Autosomal Recessive	Tremor, Torticollis, Blepharospasm, Torsion dystonia	OMIM:224500
Irida Syndrome	Pallor	ORPHA:209981
Dravet Syndrome	Pallor	ORPHA:33069
Alpha-Thalassemia-Myelodysplastic Syndrome	Abnormal bleeding, Bruising susceptibility	ORPHA:231401
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Failure to thrive, Ataxia, Hypouricemia, Pure red cell aplasia, Auto...	OMIM:613179
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Junctional ecto...	ORPHA:137675
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Aortic regurgitation, Tricuspid regurgitation, Intestinal malrotation, Hiatus hernia, Mitral valv...	OMIM:601776
Fucosidosis	Petechiae, Angiokeratoma, Cardiomegaly, Dry skin, Bruising susceptibility	OMIM:230000
Chikungunya	Abnormal bleeding, Epistaxis, Facial edema, Raynaud phenomenon, Diarrhea, Erythema, Pedal edema, ...	ORPHA:324625
Glucagonoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Necrolytic mi...	ORPHA:97280
Oslam Syndrome	Increased mean corpuscular volume, Abnormality of neutrophils	ORPHA:2760
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystonia, Mental ...	OMIM:616840
Glycogen Storage Disease Of Heart, Lethal Congenital	Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened PR interval, Cardiomyopathy,...	OMIM:261740
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Confusion, Tremor, Schistocytosis, Elevated circulating creatinine concentration...	OMIM:274150
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Incoordination, Dystonia, Increased serum bet...	ORPHA:845
Liver Failure, Infantile, Transient	Irritability, Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Xfe Progeroid Syndrome	Cachexia, Poor coordination, Absence of subcutaneous fat, Corneal scarring, Hypoalbuminemia, Enam...	OMIM:610965
Pauci-Immune Glomerulonephritis	Abnormality of the gastrointestinal tract, Purpura, Abdominal pain, Arteritis, Small vessel vascu...	ORPHA:93126
Systemic Sclerosis	Intestinal bleeding, Interstitial cardiac fibrosis, Acral ulceration, Gastroesophageal reflux, Ab...	ORPHA:90291
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Pallor	OMIM:605549
Gaucher Disease Type 1	Anorexia, Abdominal pain, Pericardial effusion, Pedal edema, Pulmonary arterial hypertension, Gin...	ORPHA:77259
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Moyamoya phenomenon	ORPHA:401986
Adiposis Dolorosa	Telangiectasia of the skin, Diarrhea, Xerostomia, Dry skin, Constipation, Bruising susceptibility	ORPHA:36397
Cerebral Visual Impairment	Intracranial hemorrhage, Ischemic stroke	ORPHA:447788
Parkinson Disease 8, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo...	OMIM:607060
Ehlers-Danlos Syndrome, Classic-Like	Quadricuspid aortic valve, Poor wound healing, Hiatus hernia, Mitral valve prolapse, Bruising sus...	OMIM:606408
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Small for gestational age, Conjugated hyperbilirubinemia, Hyperammonemia, Decreased serum zinc, H...	OMIM:617093
Grfoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97261
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Subdural hemorrhage, Cerebral hemorrhage, Death in childhood	OMIM:620278
Tay-Sachs Disease	Cherry red spot of the macula, Pallor	OMIM:272800
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Cerebral vasculitis, Subarachnoid hemorrhage	OMIM:243700
Combined Oxidative Phosphorylation Deficiency 37	Progressive neurologic deterioration, Hypoalbuminemia, Hyperalaninemia, Spasticity, Failure to th...	OMIM:618329
Kcnq2-Related Epileptic Encephalopathy	Pallor, Facial erythema	ORPHA:439218
Arterial Tortuosity Syndrome	Aortic regurgitation, Ventricular hypertrophy, Progeroid facial appearance, Hiatus hernia, Cutis ...	OMIM:208050
Rhabdoid Tumor	Hypertension, Internal hemorrhage	ORPHA:69077
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility	ORPHA:157965
Avian Influenza	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:454836
Inhalational Anthrax	Internal hemorrhage, Hypotension	ORPHA:247257
Spinocerebellar Ataxia 8	Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity	OMIM:608768
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Juvenile gastrointestinal polyposis, Epistaxis, Mitral valve prolapse, Hematochezia, Telangiectas...	OMIM:175050
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Cardiomyopathy, Cerebellar hemorrhage	OMIM:251000
Cutis Laxa, Autosomal Recessive, Type Iib	Prominent superficial veins, Redundant skin, Lack of skin elasticity, Excessive wrinkled skin, Ga...	OMIM:612940
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Tachycardia, Pallor	ORPHA:263455
Somatostatinoma	Gastrointestinal hemorrhage, Nausea and vomiting, Intestinal obstruction, Anorexia, Poor appetite...	ORPHA:97283
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Failure to thrive, Flexion contracture, Hypoalbuminemia, Hepatosplenomegaly	ORPHA:367
Congenital Tricuspid Valve Dysplasia	Tricuspid regurgitation, Cyanosis, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous...	ORPHA:555874
Combined Oxidative Phosphorylation Deficiency 18	Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria	OMIM:615578
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Pallor	OMIM:611590
Mucopolysaccharidosis-Plus Syndrome	Splenomegaly, Flexion contracture, Anemia, Leukopenia, Hypoalbuminemia, Neutropenia, Thrombocytop...	OMIM:617303
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Autoimmunity, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, J...	ORPHA:275
Behçet Disease	Aortic regurgitation, Gastrointestinal hemorrhage, Pericarditis, Nausea and vomiting, Myocardial ...	ORPHA:117
Cog8-Cdg	Spontaneous hematomas, Prolonged prothrombin time, Protein-losing enteropathy	ORPHA:95428
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Ataxia, Osteoporosis, Anemia, Leukopenia, Increased mean corpuscular volume, Lym...	OMIM:127550
Noonan Syndrome 13	Lymphedema, Dry skin, Mitral valve prolapse, Mitral regurgitation, Gastroesophageal reflux, Atria...	OMIM:619087
Myopathy, Mitochondrial, And Ataxia	Ataxia, Elevated circulating creatine kinase concentration, Tremor, Limb ataxia, Dysmetria, Depre...	OMIM:617675
Common Variable Immunodeficiency	Gastrointestinal stroma tumor, Vasculitis, Purpura	ORPHA:1572
Young-Onset Parkinson Disease	Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia...	ORPHA:2828
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic regurgitation, Tricuspid regurgitation, Left ventricular hypertrophy, Abnormal heart valve...	ORPHA:230851
Cushing Syndrome Due To Ectopic Acth Secretion	Plethora, Malignant gastrointestinal tract tumors, Dorsocervical fat pad, Neoplasm of the stomach...	ORPHA:99889
Diamond-Blackfan Anemia 7	Osteopenia, Macrocytic anemia, Osteoporosis, Increased mean corpuscular volume, Neutropenia	OMIM:612562
Beta-Thalassemia Intermedia	High-output congestive heart failure, Pallor, Pulmonary arterial hypertension, Skin ulcer	ORPHA:231222
Migraine, Familial Hemiplegic, 2	Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia	OMIM:602481
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Failure to thrive in infancy, Cachexia, Autoimmune thrombocytopenia,...	ORPHA:37042
Senior-Loken Syndrome 8	Pallor, Vascular dilatation	OMIM:616307
Relapsing Fever	Abnormal bleeding, Epistaxis, Elevated circulating C-reactive protein concentration, Elevated cir...	ORPHA:91547
Cold Agglutinin Disease	Pallor	ORPHA:56425
Kanzaki Disease	Telangiectasia of the oral mucosa, Lymphedema, Lip telangiectasia, Angiokeratoma corporis diffusu...	OMIM:609242
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Turcot Syndrome With Polyposis	Intestinal polyposis, Abdominal pain, Diarrhea, Adenomatous colonic polyposis, Desmoid tumors, He...	ORPHA:99818
Idiopathic Steroid-Resistant Nephrotic Syndrome	Hypercholesterolemia, Abnormal circulating lipid concentration, Hypoalbuminemia, Hypertriglycerid...	ORPHA:567548
Adult-Onset Autosomal Dominant Leukodystrophy	Ataxia, Clonus, Upper limb postural tremor, Action tremor, Tremor, Head titubation, Babinski sign...	ORPHA:99027
Bannayan-Riley-Ruvalcaba Syndrome	Angina pectoris, Telangiectasia, Intracranial hemorrhage, Arteriovenous malformation, Subcutaneou...	ORPHA:109
Alg12-Cdg	Hyponatremia, Abnormal bone ossification, Abnormal adipose tissue morphology, B lymphocytopenia, ...	ORPHA:79324
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pallor	OMIM:600462
Pigmented Nodular Adrenocortical Disease, Primary, 4	Hypertension, Bruising susceptibility, Dorsocervical fat pad, Fragile skin	OMIM:615830
Anemia, Sideroblastic, 1	Anemic pallor	OMIM:300751
Retinitis Pigmentosa 75	Pallor	OMIM:617023
Brittle Cornea Syndrome 2	Umbilical hernia, Bruising susceptibility	OMIM:614170
Noonan Syndrome 4	Abnormal bleeding, Ventricular septal defect, Polyhydramnios, Pulmonic stenosis, Atrial septal de...	OMIM:610733
Agel Amyloidosis	Edema, Xerostomia, Dry skin, Cutis laxa, Cardiomyopathy, Blepharochalasis, Arrhythmia, Bruising s...	ORPHA:85448
Hermansky-Pudlak Syndrome 8	Epistaxis, Excessive bleeding after a venipuncture, Menorrhagia, Gingival bleeding, Excessive ble...	OMIM:614077
Cholestasis, Progressive Familial Intrahepatic, 6	Chronic diarrhea, Bruising susceptibility, Bleeding requiring red cell transfusion	OMIM:619484
Nephrotic Syndrome, Type 11	Hypercholesterolemia, Hypoalbuminemia	OMIM:616730
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome	Tremor, Rigidity, Blepharospasm, Spastic dysarthria, Bradykinesia, Dementia, Oculomotor apraxia	ORPHA:240094
Amoebiasis Due To Entamoeba Histolytica	Leukocytosis, Hypoalbuminemia, Anemia, Weight loss	ORPHA:67
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Gastrointestinal hemorrhage, Poor wound healing, Congestive heart failure, Arterial rupture, Exce...	OMIM:225400
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Prominent superficial veins, Bruising susceptibility	OMIM:612350
Primary Sjögren Syndrome	Cutis marmorata, Raynaud phenomenon, Vasculitis, Xerostomia, Skin ulcer, Arteritis, Dry skin, Par...	ORPHA:289390
Anemia, Hypochromic Microcytic, With Iron Overload 2	Pallor	OMIM:615234
Galloway-Mowat Syndrome 1	Small for gestational age, Ataxia, Hiatus hernia, Spastic tetraplegia, Hypoalbuminemia, Dystonia,...	OMIM:251300
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Redundant skin, Blepharochalasis, Gingival bleeding, Umbilical hernia, Bruising susceptibility, F...	OMIM:225410
Congenital Disorder Of Glycosylation, Type Ib	Failure to thrive, Hypoalbuminemia	OMIM:602579
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Tremor, Hypokalemia, Periodic paralysis, Weight loss	OMIM:613239
Von Hippel-Lindau Disease	Myocardial infarction, Myocarditis, Abnormal left ventricular function, Cardiomyopathy, Hypertens...	ORPHA:892
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Scarring, Craniosynostosis, Atrophic scars, Hypoalbuminemia, Enamel hypoplasia, Failure to thrive...	ORPHA:79396
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Lymphedema, Abdominal pain, Chylopericardium, Chylothorax, Ascites	ORPHA:538
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Pallor	ORPHA:13
Idiopathic Hypereosinophilic Syndrome	Transient ischemic attack, Supraventricular arrhythmia, Pulmonary embolism, Raynaud phenomenon, C...	ORPHA:3260
Wolfram Syndrome	Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Cardiomyopathy, Gast...	ORPHA:3463
Dominant Beta-Thalassemia	High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhythmia	ORPHA:231226
Imerslund-Gräsbeck Syndrome	Abnormal bleeding, Tachycardia, Pallor	ORPHA:35858
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Pancytopenia, Inguinal hernia, Small for gestational age, Thin bony cortex, Rickets, ...	OMIM:613658
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Bruising susceptibility	OMIM:620080
Pachydermoperiostosis	Gastrointestinal hemorrhage, Peptic ulcer, Edema, Malabsorption, Joint swelling	ORPHA:2796
Sandifer Syndrome	Hiatus hernia, Hematemesis, Feeding difficulties, Gastroesophageal reflux, Esophagitis, Episodic ...	ORPHA:71272
Trichohepatoenteric Syndrome 1	Small for gestational age, Increased mean platelet volume, Splenomegaly, Increased serum iron, Hy...	OMIM:222470
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen...	OMIM:606002
Beta-Ketothiolase Deficiency	Hypertension, Pallor, Hypotension	ORPHA:134
Musculocontractural Ehlers-Danlos Syndrome	Abnormal bleeding, Abnormal heart valve morphology, Redundant skin, Malrotation of small bowel, A...	ORPHA:2953
Nephrotic Syndrome, Type 8	Hypoalbuminemia	OMIM:615244
Secondary Intestinal Lymphangiectasia	Abdominal colic, Intestinal obstruction, Intestinal lymphedema, Edema, Lymphedema, Right ventricu...	ORPHA:90363
Hereditary Spherocytosis	Restrictive cardiomyopathy, Pallor, Skin ulcer	ORPHA:822
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Portal hypertension, Hematemesis, Esophageal varix, Dehydration, Hypertension, Neonatal death, Ol...	OMIM:263200
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Fructose-1,6-Bisphosphatase Deficiency	Tachycardia, Pallor	ORPHA:348
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Mitral valve calcification, Poor wound healing, Aortic valve ca...	ORPHA:2072
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Ataxia, Tremor, Splenomegaly, Irritability, Decreased serum zinc, Emotional lability, Failure to ...	OMIM:201100
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Abnormal bleeding, Poor wound healing, Congestive heart failure, Arterial rupture, Mitral valve p...	ORPHA:1900
Marfanoid-Progeroid-Lipodystrophy Syndrome	Reduced subcutaneous adipose tissue, Progeroid facial appearance, Feeding difficulties in infancy...	OMIM:616914
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p...	OMIM:234200
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Skin rash, Autoimmunity, Autoimmune thrombocytopenia, Osteolysis, Rh...	ORPHA:100026
Lymphatic Malformation 7	Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial effusion, Increased nucha...	OMIM:617300
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, Chronic constipation, Ventricular septal defect, Feeding difficulties	OMIM:619575
Aregenerative Anemia	Abnormal bleeding, Bruising susceptibility, Pallor	ORPHA:101096
8Q24.3 Microdeletion Syndrome	Branchial cyst, Gastrointestinal hemorrhage, Ventricular septal defect, Dysplastic aortic valve, ...	ORPHA:508488
Noonan Syndrome 14	Aortic regurgitation, Polyhydramnios, Dry skin, Mitral valve prolapse, Pulmonic stenosis, Hypertr...	OMIM:619745
Fanconi Anemia, Complementation Group I	Pallor	OMIM:609053
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Arrhythmia, Dilated cardiomyopathy, Antenatal intracerebral hemorrhage	OMIM:608836
Elliptocytosis 1	Pallor	OMIM:611804
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Intestinal obstruction, Abdominal pain, Periorbital edema, Diarrhea, Vasculitis, Er...	ORPHA:32960
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me...	OMIM:615530
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Confusion, Megaloblastic anemia, Tremor, Hyperhomocyst...	OMIM:277400
Serotonin Syndrome	Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D...	ORPHA:43116
Glycogen Storage Disease Ii	Wolff-Parkinson-White syndrome, Right axis deviation, Subarachnoid hemorrhage, Shortened PR inter...	OMIM:232300
Pyoderma Gangrenosum	Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine	ORPHA:48104
3-Hydroxy-3-Methylglutaric Aciduria	Cardiac arrest, Dilated cardiomyopathy, Prolonged prothrombin time, Pallor, Hypotension	ORPHA:20
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Mitral stenosis, Angina pectoris, Myocardial infarction, Transient ischemic...	ORPHA:740
Galloway-Mowat Syndrome 3	Hiatus hernia, Hypoalbuminemia, Camptodactyly, Spasticity, Failure to thrive	OMIM:617729
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment	Fetal intraventricular hemorrhage	OMIM:618480
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Conjugated hyperbilirubinemia, Prolonged prothrombin time, Hyperbilirubinem...	ORPHA:79303
Hellp Syndrome	Prolonged prothrombin time, Cerebral hemorrhage, Internal hemorrhage, Hypotension	ORPHA:244242
Ataxia-Telangiectasia	Failure to thrive, Ataxia, Elevated circulating alpha-fetoprotein concentration, Tremor, Slurred ...	OMIM:208900
Systemic Mastocytosis With Associated Hematologic Neoplasm	Tachycardia, Syncope, Pallor, Hypotension	ORPHA:98849
Beta-Thalassemia Major	High-output congestive heart failure, Dilated cardiomyopathy, Skin ulcer, Pallor, Arrhythmia	ORPHA:231214
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Osteopenia, Ataxia, Tremor, Abnormal pyramidal sign, Osteoporosis, Mental deterioration, Anemia, ...	OMIM:612199
Sheehan Syndrome	Orthostatic hypotension, Palpitations, Bradycardia, Pallor, Dry skin	ORPHA:91355
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16	Bruising susceptibility	ORPHA:98791
Acth-Independent Macronodular Adrenal Hyperplasia	Hypertension, Bruising susceptibility, Striae distensae	OMIM:219080
Diamond-Blackfan Anemia	Acute myeloid leukemia, Small for gestational age, Pure red cell aplasia, Erythroid hypoplasia, R...	ORPHA:124
Hyperlysinemia	Short attention span, Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Craniosynos...	ORPHA:2203
Selective Igm Deficiency	Fasciitis, Lymphadenitis, Recurrent cutaneous fungal infections, Otitis media, Recurrent vulvovag...	ORPHA:331235
Pituitary Apoplexy	Hypertension, Pallor, Hypotension	ORPHA:95613
Autoinflammatory Disease, Systemic, X-Linked	Cerebral hemorrhage	OMIM:301081
Pigmented Nodular Adrenocortical Disease, Primary, 2	Hypertension, Bruising susceptibility, Striae distensae	OMIM:610475
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Intracranial hemorrhage, Patent ductus arteriosus, Interrupted aortic arch, Heart murmur	ORPHA:163979
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Pericardial effusion, Right ventricular f...	ORPHA:199241
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Abnormal circulating acylcarnitine concentration, Increased circulating free fatty acid level, Hy...	ORPHA:71212
Nelson Syndrome	Intracranial hemorrhage, Hypertension, Striae distensae	ORPHA:199244
Cardiac-Urogenital Syndrome	Prolonged bleeding time, Tachycardia, Cor triatrium sinister, Ventricular septal defect, Dextroca...	OMIM:618280
Reynolds Syndrome	Gastrointestinal hemorrhage, Raynaud phenomenon, Jaundice, Lip telangiectasia, Palmar telangiecta...	OMIM:613471
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Tremor, Hyperammonemia, Anemia, Hyperglycinemia, Neutropeni...	OMIM:251100
Glutaryl-Coa Dehydrogenase Deficiency	Subdural hemorrhage, Retinal hemorrhage	ORPHA:25
Plummer-Vinson Syndrome	Pallor	ORPHA:54028
Adenohypophysitis	Orthostatic hypotension, Pallor	ORPHA:95512
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Elevated circulating uracil concentration, Hyperglutaminemia, Low plasma citrulline, Hyperammonem...	OMIM:311250
Classical-Like Ehlers-Danlos Syndrome Type 2	Redundant skin, Pericardial effusion, Prominent veins on trunk, Mitral valve prolapse, Umbilical ...	ORPHA:536532
Childhood Absence Epilepsy	Pallor	ORPHA:64280
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Intracranial hemorrhage, Hypertension	ORPHA:90795
Triosephosphate Isomerase Deficiency	Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Failure to thrive, Tremor, Splenomegaly, ...	OMIM:615512
Chédiak-Higashi Syndrome	Abnormal bleeding, Epistaxis, Edema, Pericardial effusion, Jaundice, Cutaneous photosensitivity, ...	ORPHA:167
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Hypoalbuminemia, Camptodactyly, Umbilical hernia, Coronal craniosynostosis, Joint contracture of ...	OMIM:235510
Kyphoscoliotic Ehlers-Danlos Syndrome	Cerebral hemorrhage, Subdural hemorrhage, Arterial rupture, Umbilical hernia, Bruising susceptibi...	ORPHA:536545
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Flexion contracture, Hepatosplenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hernia, Thrombocyto...	ORPHA:505248
Non-Functioning Pituitary Adenoma	Pallor, Hypotension	ORPHA:91349
Myasthenia Gravis	Myositis, Anti-acetylcholine receptor antibody positivity, Anti-muscle-specific tyrosine kinase a...	ORPHA:589
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Pallor, Abnormal T-wave, Arrhythmia	ORPHA:2131
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Increase...	ORPHA:2298
Noonan Syndrome 9	Prolonged prothrombin time	OMIM:616559
Letterer-Siwe Disease	Pallor	OMIM:246400
Panhypophysitis	Orthostatic hypotension, Pallor	ORPHA:95513
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Tricuspid regurgitation, Polyhydramnios, Patent ductus arteriosus, Cutis laxa, Feeding difficulti...	OMIM:614557
Niemann-Pick Disease Type C	Bone-marrow foam cells, Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal ...	ORPHA:646
Noonan Syndrome 3	Ventricular septal defect, Polyhydramnios, Patent ductus arteriosus, Mitral valve prolapse, Pulmo...	OMIM:609942
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency	Chronic gastritis, Viral hepatitis, Psoriasiform dermatitis, Skin rash, Cholangitis, Pneumonia, A...	ORPHA:183675
Pyruvate Kinase Deficiency Of Red Cells	Pallor	OMIM:266200
Wilson Disease	Acute hepatic failure, Joint swelling, Jaundice, Bruising susceptibility	ORPHA:905
Hereditary Folate Malabsorption	Pallor	ORPHA:90045
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hyperbilirubinemia, Hypermethio...	OMIM:617156
Riddle Syndrome	Conjunctival telangiectasia, Intraventricular hemorrhage, Erythema, Telangiectasia, Scaling skin	ORPHA:420741
Superficial Siderosis	Abnormal bleeding, Subarachnoid hemorrhage, Abnormal vertebral artery morphology, Arteriovenous m...	ORPHA:247245
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Failure to thrive, Hypoalbuminemia, Hypernatremia	OMIM:615508
Loeys-Dietz Syndrome 4	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Mitral valve prolapse, Bruisin...	OMIM:614816
Primary Sclerosing Cholangitis	Osteopenia, Abnormal eosinophil morphology, Splenomegaly, Osteoporosis, Weight loss, Hepatospleno...	ORPHA:171
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Abdominal aortic aneurysm, Arterial tortuosity, Patent ductus arterio...	OMIM:613795
Autosomal Recessive Polycystic Kidney Disease	Gastrointestinal hemorrhage, Cholangiocarcinoma, Portal hypertension, Jaundice, Esophageal varix,...	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 25	Intraventricular hemorrhage	OMIM:616430
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Pulmonary embolism, Dilated cardiomyopathy, Subdural hemorrhage, Stroke, Pulmonary arterial hyper...	ORPHA:79282
Overlap Myositis	Subluxation of the small joints of the hand, Autoimmunity, Antinuclear antibody positivity, Syste...	ORPHA:206572
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Osteoporosis, Hypoalbumi...	ORPHA:186
Prolactinoma	Pallor, Hypotension	ORPHA:2965
Ehlers-Danlos Syndrome, Vascular Type	Dermal translucency, Recurrent intrapulmonary hemorrhage, Diffuse alveolar hemorrhage, Arterial r...	OMIM:130050
Rift Valley Fever	Abnormal bleeding, Miscarriage, Anorexia, Hematemesis, Jaundice, Retinal hemorrhage, Macular edem...	ORPHA:319251
Infantile Liver Failure Syndrome 3	Prolonged prothrombin time, Hyperammonemia	OMIM:618641
Incontinentia Pigmenti	Pallor, Erythema, Retinal hemorrhage	OMIM:308300
Cockayne Syndrome Type 3	Subdural hemorrhage, Retinal hemorrhage, Cardiomyopathy, Aortic root aneurysm, Stroke, Increased ...	ORPHA:90324
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Intrauterine growth retardation, Bruising susceptibility, Arterial rupture	OMIM:612394
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227990
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume	OMIM:619774
Pigmented Nodular Adrenocortical Disease, Primary, 1	Hypertension, Bruising susceptibility, Striae distensae	OMIM:610489
Blue Rubber Bleb Nevus	Intestinal bleeding, Rectal prolapse, Volvulus, Intussusception	OMIM:112200
Loeys-Dietz Syndrome 5	Reduced subcutaneous adipose tissue, Ventricular septal defect, Eosinophilic infiltration of the ...	OMIM:615582
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Pallor	ORPHA:331206
Neuroleptic Malignant Syndrome	Hyponatremia, Extrapyramidal muscular rigidity, Oculogyric crisis, Elevated circulating creatine ...	ORPHA:94093
Spondyloepimetaphyseal Dysplasia, Krakow Type	Patent ductus arteriosus, Feeding difficulties, Constipation, Atrial septal defect, Bruising susc...	OMIM:618162
Methylmalonic Acidemia With Homocystinuria Type Cblf	Intraventricular hemorrhage	ORPHA:79284
Medulloblastoma	Cerebellar hemorrhage	ORPHA:616
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor	OMIM:190310
Severe Congenital Hypochromic Anemia With Ringed Sideroblasts	Pallor	ORPHA:300298
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Hypertonia, Spasticity, Failure to ...	OMIM:616539
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Yellow Fever	Abnormal bleeding, Shock, Supraventricular arrhythmia, Nausea, Excessive bleeding after a venipun...	ORPHA:99829
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Abdominal pain, Jaundice, Malnutrition, Vomiting, Nausea	OMIM:229600
Congenital Total Pulmonary Venous Return Anomaly	Tachycardia, Tricuspid regurgitation, Right ventricular failure, Patent ductus arteriosus, Pulmon...	ORPHA:99125
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Atrophic gastritis, Antiphospholipid antibody positivity, Autoimmunity, Autoimmune th...	ORPHA:227982
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema	Pallor	OMIM:194380
Hardikar Syndrome	Ventricular septal defect, Intestinal malrotation, Portal hypertension, Abdominal pain, Hematemes...	OMIM:301068
Tsh-Secreting Pituitary Adenoma	Supraventricular arrhythmia, Congestive heart failure, Hypertension, Palpitations, Hypotension, P...	ORPHA:91347
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Osteomalacia, Elevated circulating C-reactive protein conc...	OMIM:619381
Marshall-Smith Syndrome	Bruising susceptibility	ORPHA:561
Arachnoid Cyst	Encephalocele, Subarachnoid hemorrhage	ORPHA:2356
Thymoma	Myositis, Glomerulonephritis, Autoimmunity, Anti-acetylcholine receptor antibody positivity, Ulce...	ORPHA:99867
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Pallor	OMIM:300908
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Plethora, Dorsocervical fat pad, Hypertension, Bruising susceptibility, Striae distensae	ORPHA:189427
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment	OMIM:146500
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Abnormal bleeding, Epistaxis, Diarrhea, Prolonged bleeding following procedure, Enterocolitis, He...	ORPHA:79259
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome	Bruising susceptibility, Pulmonic stenosis, Dermal translucency	OMIM:618343
Hydranencephaly	Abnormal internal carotid artery morphology, Dilatation of the ventricular cavity, Antenatal intr...	ORPHA:2177
Congenital Tricuspid Stenosis	Rheumatoid arthritis, Bacterial endocarditis	ORPHA:95459
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Pearson Marrow-Pancreas Syndrome	Erythema, Pallor, Death in childhood	OMIM:557000
Supranuclear Palsy, Progressive, 1	Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro...	OMIM:601104
Retinitis Pigmentosa And Erythrocytic Microcytosis	Pallor	OMIM:616959
Celiac Disease, Susceptibility To, 1	Eczema, Thyroiditis, Prolonged prothrombin time, Recurrent aphthous stomatitis, Hypocalcemia, Sto...	OMIM:212750
Gaucher Disease	Osteopenia, Pancytopenia, Increased bone mineral density, Ataxia, Elevated circulating C-reactive...	ORPHA:355
Pituitary Deficiency Due To Rathke Cleft Cysts	Intracranial hemorrhage	ORPHA:91350
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Intraventricular hemorrhage	OMIM:613603
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Premature graying of hair, Bruising susceptibility	OMIM:112250
Peutz-Jeghers Syndrome	Abdominal pain, Rectal prolapse, Multiple gastric polyps, Bloody diarrhea, Hamartomatous polyposi...	OMIM:175200
Brittle Cornea Syndrome	Bruising susceptibility, Pulmonic stenosis, Mitral valve prolapse	ORPHA:90354
Osteogenesis Imperfecta	Aortic regurgitation, Cerebral hemorrhage, Cutis laxa, Aortic root aneurysm, Aortic dissection, A...	ORPHA:666
Dpagt1-Cdg	Intracranial hemorrhage, Prolonged QT interval, Stroke-like episode	ORPHA:86309
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Bruising susceptibility, Fragile skin	OMIM:617821
Congenital Disorder Of Glycosylation, Type It	Elevated circulating creatine kinase concentration, Hepatitis, Chronic hepatitis, Prolonged proth...	OMIM:614921
Osteogenesis Imperfecta, Type Xvii	Intraventricular hemorrhage	OMIM:616507
Fumarase Deficiency	Pallor	OMIM:606812
Fanconi Anemia, Complementation Group E	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:600901
Meester-Loeys Syndrome	Poor wound healing, Mitral valve prolapse, Umbilical hernia, Bruising susceptibility, Striae dist...	OMIM:300989
Lymphoid Interstitial Pneumonia	Skin rash, Autoimmunity, Eczema, Autoimmune antibody positivity, Bronchiectasis, Keratoconjunctiv...	ORPHA:79128
Adenocarcinoma Of The Anal Canal	Anal canal adenocarcinoma, Abdominal pain, Rectal prolapse, Skin ulcer, Neoplasm of the rectum, N...	ORPHA:424016
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Jaundice, Bruising susceptibility	OMIM:214500
Autosomal Recessive Malignant Osteopetrosis	Pulmonary arterial hypertension, Pulmonary artery stenosis, Bruising susceptibility, Pallor	ORPHA:667
Fanconi Anemia, Complementation Group C	Intrauterine growth retardation, Bruising susceptibility, Ventricular septal defect, Anemic pallor	OMIM:227645
Fanconi Anemia, Complementation Group A	Bruising susceptibility, Anemic pallor, Abnormal heart morphology	OMIM:227650
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Abnormal branching pattern of the aortic arch, L...	OMIM:619472
Multiple Endocrine Neoplasia Type 2	Pallor, Palpitations, Hypertensive crisis, Hypertension associated with pheochromocytoma	ORPHA:653
Esophageal Atresia	Tetralogy of Fallot, Pallor, Coarctation of aorta	ORPHA:1199
Fanconi Anemia, Complementation Group D2	Anemic pallor, Esophageal atresia, Patent ductus arteriosus, Tracheoesophageal fistula, Abnormal ...	OMIM:227646
Hereditary Xanthinuria	Arthropathy, Rheumatoid arthritis, Gout	ORPHA:3467
Igg4-Related Retroperitoneal Fibrosis	Psoriasiform dermatitis, Rheumatoid factor positive, Deep dermal perivascular inflammatory infilt...	ORPHA:49041
Congenital Disorder Of Glycosylation, Type Iw, Autosomal Dominant	Subdural hemorrhage	OMIM:619714
Infection-Related Hemolytic Uremic Syndrome	Myocarditis, Hypertension, Pallor, Hypertensive crisis	ORPHA:544482
Osteogenesis Imperfecta, Type I	Bruising susceptibility, Mitral valve prolapse	OMIM:166200
Sialuria	Prolonged prothrombin time	ORPHA:3166
Plague	Abnormal bleeding, Tachycardia, Edema, Anorexia, Hematemesis, Abdominal pain, Diarrhea, Enterocol...	ORPHA:707
Degcags Syndrome	Tachycardia, Patent ductus arteriosus, Pallor, Pulmonic stenosis, Pulmonary arterial hypertension...	OMIM:619488
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Atrial fibrillation, Patent ductus arteriosus, Abnormal heart morphology, M...	ORPHA:284984
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal blood inorganic cation concentration, Prolonged prothrombin time, Increased total iron b...	ORPHA:309854
Mucoepithelial Dysplasia, Hereditary	Melena, Chronic diarrhea, Cor pulmonale, Corneal neovascularization	OMIM:158310
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance	Hyperlipidemia, Hypoalbuminemia	ORPHA:567546
Caroli Syndrome	Abnormal bleeding, Cholangiocarcinoma, Portal hypertension, Abdominal pain, Hematemesis, Jaundice...	ORPHA:480520
Smith-Lemli-Opitz Syndrome	Splenomegaly, Epiphyseal stippling, Hypertonia, Hypoalbuminemia, Elevated circulating 7-dehydroch...	OMIM:270400
Koolen-De Vries Syndrome Due To A Point Mutation	Spina bifida, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Aortic aneurysm	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Spina bifida, Intraventricular hemorrhage, Cardiomyopathy, Pulmonic stenosis, Aortic aneurysm	ORPHA:363958
3-Methylglutaconic Aciduria, Type Viib	Abnormal bleeding, Prolonged prothrombin time, Recurrent pneumonia	OMIM:616271
Meningioma	Syncope, Cerebral hemorrhage	ORPHA:2495
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Dermal translucency, Bruising susceptibility, Mitral valve prolapse, Oligohydramnios	ORPHA:536467
Noonan Syndrome 1	Abnormal bleeding, Ventricular septal defect, Lymphedema, Feeding difficulties in infancy, Patent...	OMIM:163950
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Patent ductus arteriosus, Cerebral hemorrhage	OMIM:616682
Familial Cerebral Cavernous Malformation	Venous malformation, Cerebral hemorrhage	ORPHA:221061
Autoimmune Lymphoproliferative Syndrome	Abnormal bleeding, Gastritis, Vasculitis, Hydrops fetalis, Urticaria, Colitis, Recurrent aphthous...	ORPHA:3261
Acute Transverse Myelitis	Hypertension, Orthostatic hypotension, Subarachnoid hemorrhage	ORPHA:139417
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dilation of Virchow-Robin spaces, Cerebral hemorrhage, Retinal arteriolar tortuosity, Retinal hem...	OMIM:175780
Occipital Horn Syndrome	Gastroparesis, Hiatus hernia, Jaundice, Gastroesophageal reflux, Esophagitis, Dysphagia, Bruising...	ORPHA:198
Multiple Endocrine Neoplasia Type 1	Duodenal ulcer, Peptic ulcer, Anorexia, Abdominal pain, Shortened QT interval, Hematemesis, Diarr...	ORPHA:652
Occipital Horn Syndrome	Orthostatic hypotension, Redundant skin, Hiatus hernia, Chronic diarrhea, Bruising susceptibility	OMIM:304150
Biliary, Renal, Neurologic, And Skeletal Syndrome	Osteopenia, Inguinal hernia, Conjugated hyperbilirubinemia, Splenomegaly, Increased circulating f...	OMIM:619534
Witteveen-Kolk Syndrome	Intracranial hemorrhage, Branchial fistula	OMIM:613406
Vascular Ehlers-Danlos Syndrome	Abnormal bleeding, Telangiectasia of the skin, Abnormal heart valve morphology, Transient ischemi...	ORPHA:286
Eisenmenger Syndrome	Elevated circulating C-reactive protein concentration, Hypochromic microcytic anemia, Iron defici...	ORPHA:97214
Loeys-Dietz Syndrome	Abnormal bleeding, Cardiac arrest, Patent ductus arteriosus, Bruising susceptibility, Striae dist...	ORPHA:60030
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Duodenal polyposis, Adenomatous colonic polyposis, Desmoid tumors, Intestinal bleeding, Colon can...	ORPHA:261584
Isolated Biliary Atresia	Conjugated hyperbilirubinemia, Prolonged prothrombin time	ORPHA:30391
Goodpasture Syndrome	Pallor, Pulmonary hemorrhage	OMIM:233450
Shwachman-Diamond Syndrome 2	Prolonged prothrombin time	OMIM:617941
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Pallor	OMIM:253280
Neurofibroma	Multiple intestinal neurofibromatosis, Intestinal bleeding	ORPHA:252183
Pmm2-Cdg	Osteopenia, Multiple joint contractures, Abnormality of coordination, Ataxia, Lipodystrophy, Abno...	ORPHA:79318
Carney Complex	Dorsocervical fat pad, Neoplasm of the stomach, Esophageal neoplasm, Cardiac myxoma, Congestive h...	ORPHA:1359
Tropical Endomyocardial Fibrosis	Splenomegaly, Hypoalbuminemia, Eosinophilia, Cachexia	ORPHA:75565
Hereditary Sensory And Autonomic Neuropathy Type 4	Orthostatic hypotension due to autonomic dysfunction, Feeding difficulties, Syncope, Dysphagia, D...	ORPHA:642
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Prolonged prothrombin time, Hypotriglyceridemia, Decreased LDL cholesterol concentration	ORPHA:404454
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Hypoalbuminemia	OMIM:614748
Tuberous Sclerosis Complex	Hypertension, Internal hemorrhage	ORPHA:805
Congenital Disorder Of Glycosylation, Type Iiw	Recurrent otitis media, Prolonged prothrombin time, Membranoproliferative glomerulonephritis, Ble...	OMIM:619525
Pregnancy Loss, Recurrent, Susceptibility To, 2		OMIM:614390

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 F2

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 F2.

There are 5 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Dedicated transcriptomics combined with power analysis lead to functional understanding of genes with weak phenotypic changes in knockout lines.	PLoS computational biology (November 2020)	A830005F24Rik^{tm1.1(KOMP)Mbp}	PMC7685438
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	2610509F24Rik^{tm1.1(NCC)WCS} 8030411F24Rik^{tm2b(EUCOMM)Wtsi}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	2610509F24Rik^{tm1.1(NCC)WCS} 8030411F24Rik^{tm2b(EUCOMM)Wtsi}	PMC6671969
A T cell-specific knockout reveals an important role for protease-activated receptor 2 in lymphocyte development.	The international journal of biochemistry & cell biology (September 2017)	F2rl1^{tm1c(EUCOMM)Wtsi} F2rl1^{tm1a(EUCOMM)Wtsi}	28951199
Counterregulation between thymic stromal lymphopoietin- and IL-23-driven immune axes shapes skin inflammation in mice with epidermal barrier defects.	The Journal of allergy and clinical immunology (March 2016)	F2rl1^{tm1a(EUCOMM)Wtsi}	26993035

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

MGI Allele	Allele Type	Produced
F2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
F2^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice
F2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
F2^{tm1(NCOM)Mfgc}	Reporter-tagged deletion allele (with selection cassette)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: F2 MGI:88380

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

MicroCT E18.5

Embryo LacZ

X-ray

Adult LacZ

Immunophenotyping

Auditory Brain Stem Response

Human diseases caused by F2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data