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Gene: Krt27 MGI:1339999

Gene Summary

Name:

keratin 27

Synonyms:

Krt1-c29, stpm, mIRSa3.1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal skin morphology	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
enlarged thymus	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal thymus morphology	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal heart morphology	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
lordosis	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	5.77×10^-07
enlarged lymph nodes	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal lymph node morphology	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
increased CD8-positive, alpha-beta T cell number	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	8.37×10^-05
enlarged heart	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00
abnormal seminal vesicle morphology	Krt27^{em1(IMPC)Ccpcz}	HOM	Early adult	0.00

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Hind Leg and Hip

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

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Human diseases caused by Krt27 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 Krt27 (0 diseases)
Human diseases predicted to be associated with Krt27 (949 diseases)

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

The table below shows human diseases predicted to be associated to Krt27 by phenotypic similarity.

Disease	Matching phenotypes	Source
Pili Gemini	Abnormal hairshaft morphology, Hair shafts flattened at irregular intervals and twisted through 1...	ORPHA:79492
Discoid Fibromas, Familial Multiple	Abnormal hair morphology	OMIM:190340
Ringed Hair	Abnormal hair morphology	OMIM:180600
Hairy Nose Tip	Abnormal hair morphology	OMIM:139630
Uncombable Hair Syndrome 3	Uncombable hair, Curly hair, Brittle hair, Pili canaliculi	OMIM:617252
Ringed Hair Disease	Abnormal hair pattern, Fine hair	ORPHA:169
Woolly Hair, Autosomal Recessive 3	Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa	OMIM:616760
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Uncombable Hair Syndrome 2	Uncombable hair, Pili canaliculi	OMIM:617251
Hypotrichosis 4	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Uncombable hair, Sparse body hair	OMIM:146550
Witkop Syndrome	Ridged nail, Concave nail, Nail pits, Fine hair, Small nail, Sparse hair	OMIM:189500
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Acrokeratoderma, Hereditary Papulotranslucent	Fine hair	OMIM:101840
Hypotrichosis 9	Sparse scalp hair, Sparse body hair	OMIM:614237
Hypotrichosis 1	Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Sparse eyebrow, Abnormality of the nai...	OMIM:605389
Alopecia Areata 2	Alopecia of scalp, Patchy alopecia, Alopecia totalis, Alopecia universalis	OMIM:610753
Trichodysplasia-Xeroderma Syndrome	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyebrow, Sparse body hair, Coarse hair, Trichod...	ORPHA:3361
Alopecia Universalis Congenita	Absent eyebrow, Absent eyelashes, Absent pubic hair, Absent axillary hair, Alopecia universalis	OMIM:203655
Hypotrichosis 11	Sparse or absent eyelashes, Alopecia universalis, Absent axillary hair, Sparse hair, Aplasia/Hypo...	OMIM:615059
Angioma Serpiginosum, X-Linked	Sparse hair, Nail dystrophy, Fine hair	OMIM:300652
Hypotrichosis Simplex	Sparse scalp hair, Alopecia, Sparse eyelashes, Sparse eyebrow, Sparse hair, Sparse body hair	ORPHA:55654
Chand Syndrome	Curly hair, Nail dysplasia	OMIM:214350
Hypertrichosis Lanuginosa Congenita	Congenital, generalized hypertrichosis, Double eyebrow	OMIM:145700
Uncombable Hair Syndrome 1	Uncombable hair, Dry hair, Pili canaliculi	OMIM:191480
Pili Torti-Developmental Delay-Neurological Abnormalities Syndrome	Sparse or absent eyelashes, Pili torti, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair te...	ORPHA:2891
Alopecia Totalis	Alopecia, Alopecia of scalp	ORPHA:700
Monilethrix	Alopecia, Brittle hair, Abnormality of hair texture, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:158000
Atrichia With Papular Lesions	Sparse hair	OMIM:209500
Alopecia, Congenital	Sparse hair, Alopecia	OMIM:300042
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Hypotrichosis 10	Sparse eyebrow, Sparse eyelashes, Sparse body hair	OMIM:614238
Marie Unna Hereditary Hypotrichosis	Sparse scalp hair, Alopecia, Sparse or absent eyelashes, Coarse hair, Aplasia/Hypoplasia of the e...	ORPHA:444
Alopecia-Intellectual Disability Syndrome 1	Alopecia, Alopecia universalis	OMIM:203650
Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis	Sparse hair	OMIM:246500
Ectodermal Dysplasia 4, Hair/Nail Type	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Onycholysis, Nail dystrophy, Sparse bod...	OMIM:602032
Alopecia Universalis	Absent eyelashes, Absent eyebrow, Patchy alopecia, Alopecia universalis	ORPHA:701
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Pili Torti	Abnormal eyebrow morphology, Alopecia, Brittle hair, Abnormality of hair texture, Abnormality of ...	ORPHA:2889
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia Areata 1	Trachyonychia, Alopecia totalis, Nail pits, Patchy alopecia, Alopecia universalis	OMIM:104000
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Hair Defect With Photosensitivity And Mental Retardation	Brittle hair, Sparse eyelashes, Sparse eyebrow, Coarse hair, Sparse hair	OMIM:234030
Hepatic Venoocclusive Disease With Immunodeficiency	Endocardial fibrosis, Absence of lymph node germinal center	OMIM:235550
Ichthyosis-Hypotrichosis Syndrome	Sparse hair	ORPHA:91132
Hypertrichosis, Congenital Generalized	Congenital, generalized hypertrichosis, Hirsutism	OMIM:307150
Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears	Sparse hair, Woolly hair	OMIM:278200
Ectodermal Dysplasia 6, Hair/Nail Type	Sparse hair, Alopecia, Thin toenail, Dystrophic toenail	OMIM:614928
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Hypertrichosis, Anterior Cervical	Anterior cervical hypertrichosis	OMIM:600457
Hypertrichosis Universalis Congenita, Ambras Type	Congenital, generalized hypertrichosis	OMIM:145701
Cardiofaciocutaneous Syndrome 2	Sparse hair, Curly hair, Absent eyebrow, Fine hair	OMIM:615278
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Alopecia, Alopecia of scalp	OMIM:260910
Graham Little-Piccardi-Lassueur Syndrome	Sparse pubic hair, Sparse scalp hair, Alopecia, Sparse axillary hair	ORPHA:505
Naxos Disease	Woolly hair, Sparse scalp hair, Curly hair, Abnormality of hair texture	ORPHA:34217
Woolly Hair, Autosomal Dominant	Abnormal eyebrow morphology, Dry hair, Slow-growing hair, Abnormal eyelash morphology, Coarse hai...	OMIM:194300
Hypotrichosis 13	Sparse hair, Woolly hair, Sparse eyelashes, Abnormal sweat gland morphology	OMIM:615896
Ichthyosis, Congenital, Autosomal Recessive 11	Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Sparse body hair, Sp...	OMIM:602400
Hypotrichosis 7	Sparse scalp hair, Brittle hair, Sparse eyelashes, Sparse axillary hair, Abnormal sweat gland mor...	OMIM:604379
Sabinas Brittle Hair Syndrome	Dry hair, Brittle hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:211390
Hypotrichosis 12	Sparse scalp hair, Dry hair, Slow-growing hair, Sparse axillary hair, Abnormal sweat gland morpho...	OMIM:615885
Palmoplantar Keratoderma And Woolly Hair	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Leukonychia, Woolly hair, Sparse body hair	OMIM:616099
Crandall Syndrome	Alopecia, Brittle hair, Fine hair, Pili torti, Sparse body hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:202
Monilethrix	Abnormal eyebrow morphology, Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Fine h...	ORPHA:573
Ectodermal Dysplasia 9, Hair/Nail Type	Concave nail, Absent eyelashes, Nail dystrophy, Atrichia, Nail dysplasia, Sparse hair, Absent hair	OMIM:614931
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis	ORPHA:1014
Pili Torti, Early-Onset	Dry hair, Brittle hair, Coarse hair, Hair shafts flattened at irregular intervals and twisted thr...	OMIM:261900
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Sparse hair, Reduced terminal:vellus ratio, Pili torti	OMIM:601553
Carvajal Syndrome	Woolly hair	ORPHA:65282
Hereditary Progressive Mucinous Histiocytosis	Mucinous histiocytosis, Lymphadenopathy	ORPHA:158025
Copper Deficiency, Familial Benign	Curly hair, Early balding	OMIM:121270
Björnstad Syndrome	Alopecia, Brittle hair	ORPHA:123
Pulmonary Nodular Lymphoid Hyperplasia	Mediastinal lymphadenopathy, Plasmacytosis, Follicular hyperplasia	ORPHA:60026
Trichodental Dysplasia	Sparse hair, Brittle hair, Slow-growing hair, Fine hair	OMIM:601453
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Abnormal lymph node morphology	OMIM:136580
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Hypotrichosis 6	Brittle hair, Sparse eyelashes, Sparse eyebrow, Sparse hair, Pili torti	OMIM:607903
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency	Lymphadenopathy	ORPHA:319600
Cervical Hypertrichosis With Underlying Kyphoscoliosis	Anterior cervical hypertrichosis, Sacral hypertrichosis, Lumbar hypertrichosis, Thoracic hypertri...	OMIM:117850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 11	Woolly hair	OMIM:610476
Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Abnormal hair morpholo...	ORPHA:1808
Ectodermal Dysplasia 7, Hair/Nail Type	Sparse scalp hair, Alopecia, Brittle hair, Sparse eyelashes, Abnormal sweat gland morphology, Spa...	OMIM:614929
Trichothiodystrophy 7, Nonphotosensitive	Tiger tail banding, Brittle hair	OMIM:618546
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Abnormal fingernail morphology, Abnormal hair morphology, Fine hair, Abnormal toenail m...	ORPHA:248
Loose Anagen Syndrome	Abnormal hair morphology, Abnormal hair whorl	ORPHA:168
Bjornstad Syndrome	Alopecia, Brittle hair, Dry hair, Coarse hair, Hair shafts flattened at irregular intervals and t...	OMIM:262000
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Sparse body hair, Dystrophic toenail	OMIM:617294
Squamous Cell Carcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99977
Immunodeficiency 38 With Basal Ganglia Calcification	Lymphadenopathy	OMIM:616126
Onychotrichodysplasia And Neutropenia	Curly hair, Curly eyelashes, Concave nail, Sparse pubic hair, Short eyelashes, Trichorrhexis nodo...	OMIM:258360
Reticuloendotheliosis, X-Linked	Hepatosplenomegaly, Anemia, Lymphadenopathy	OMIM:312500
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Dilated cardiomyopathy, Scoliosis	OMIM:300718
Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant	Ridged nail, Sparse eyelashes, Slow-growing hair, Sparse eyebrow, Fine hair, Sparse hair	OMIM:129490
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, Folli...	OMIM:619126
Erythrokeratodermia Variabilis Et Progressiva 7	Woolly hair, Dystrophic toenail	OMIM:619209
Mantle Cell Lymphoma	Splenomegaly, Lymphadenopathy	ORPHA:52416
Acromesomelic Dysplasia, Maroteaux Type	Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral...	ORPHA:40
Nail Disorder, Nonsyndromic Congenital, 3	Abnormal hair morphology, Leukonychia, Concave nail	OMIM:151600
Ethanolaminosis	Cardiomegaly	OMIM:227150
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Fragile nails, Fine hair	ORPHA:500166
Hypodontia-Dysplasia Of Nails Syndrome	Abnormal fingernail morphology, Hypoplastic toenails, Fine hair, Thin toenail, Ridged fingernail,...	ORPHA:2228
Cerebellar Ataxia-Ectodermal Dysplasia Syndrome	Sparse hair, Fine hair	ORPHA:1174
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Choroidal Atrophy-Alopecia Syndrome	Abnormal fingernail morphology, Supernumerary nipple, Bifid nail, Fine hair, Sparse or absent eye...	ORPHA:1433
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Ridged nail, Alopecia, Nail dystrophy, Nail pits	OMIM:601705
Bazex-Dupré-Christol Syndrome	Sparse scalp hair, Sparse eyebrow, Sparse or absent eyelashes, Coarse hair, Sparse hair, Pili tor...	ORPHA:113
Kerion Celsi	Recurrent cutaneous abscess formation, Lymphadenopathy	ORPHA:499
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair	OMIM:104100
Immunodeficiency 104	Hepatomegaly, Splenomegaly, T lymphocytopenia, Lymphadenopathy	OMIM:608971
Isolated Glycerol Kinase Deficiency	Cryptorchidism, Scoliosis, Hyperlordosis	ORPHA:408
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial instability, Spond...	OMIM:600561
Intellectual Developmental Disorder, Autosomal Dominant 34	Curly hair, Synophrys, Coarse hair	OMIM:616351
Leopard Syndrome 2	Curly hair	OMIM:611554
Hypotrichosis Simplex Of The Scalp	Abnormal eyebrow morphology, Sparse scalp hair, Absent facial hair, Abnormality of the pubic hair...	ORPHA:90368
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Sparse scalp hair, Alopecia, Sparse eyebrow, Fine hair, Dystrophic fingernails, Dystrophic toenail	ORPHA:1882
Hypotrichosis 5	Alopecia, Sparse eyelashes, Abnormal sweat gland morphology, Absent pubic hair, Thin eyebrow, Abs...	OMIM:612841
Ectodermal Dysplasia-Syndactyly Syndrome 1	Sparse scalp hair, Alopecia, Sparse eyelashes, Absent facial hair, Hypoplastic toenails, Coarse h...	OMIM:613573
Hawkinsinuria	Sparse hair, Fine hair	ORPHA:2118
Clouston Syndrome	Alopecia, Brittle hair, Sparse eyelashes, Alopecia totalis, Slow-growing hair, Sparse eyebrow, Ab...	OMIM:129500
Trichothiodystrophy 2, Photosensitive	Coarse hair, Tiger tail banding	OMIM:616390
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphad...	ORPHA:444463
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,...	OMIM:609223
Noonan Syndrome 9	Sparse eyebrow, Curly hair	OMIM:616559
Cardiofaciocutaneous Syndrome 3	Curly hair	OMIM:615279
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Curly hair, Curly eyelashes, Multiple rows of eyelashes, Low posterior hairline, Nail dysplasia, ...	ORPHA:163654
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Curly hair, Sparse eyelashes, Sparse hair, Alopecia of scalp	OMIM:615280
Immunodeficiency 52	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Increase...	OMIM:617514
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair	OMIM:619985
Myosclerosis, Autosomal Recessive	Lumbar hyperlordosis, Thoracolumbar scoliosis, Spinal rigidity	OMIM:255600
Noonan Syndrome 6	Sparse hair, Curly hair, Long eyebrows, Low posterior hairline	OMIM:613224
Mucolipidosis Type Iii	Abnormal heart valve morphology, Abnormal aortic valve morphology, Abnormal form of the vertebral...	ORPHA:577
Immunodeficiency 76	Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia	OMIM:619164
Hypotrichosis With Juvenile Macular Degeneration	Sparse scalp hair, Brittle hair, Pili torti, Fine hair	ORPHA:1573
Kimura Disease	Eosinophilia, Abnormal salivary gland morphology, Lymphadenopathy, Follicular hyperplasia	ORPHA:482
Pili Torti-Onychodysplasia Syndrome	Absent eyebrow, Alopecia, Brittle hair, Absent eyelashes, Nail dystrophy, Trichodysplasia, Congen...	ORPHA:2890
Giant Axonal Neuropathy 1, Autosomal Recessive	Curly hair	OMIM:256850
Ectodermal Dysplasia 13, Hair/Tooth Type	Brittle hair, Sparse eyelashes, Low anterior hairline, Thin eyebrow	OMIM:617392
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt...	OMIM:615513
Noonan Syndrome 5	Sparse eyebrow, Curly hair, Small nail, Fine hair	OMIM:611553
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability	Kyphosis, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:617404
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Sparse hair, Curly hair, Synophrys, Sparse eyebrow	OMIM:620075
Leopard Syndrome 3	Curly hair, Low posterior hairline	OMIM:613707
Immunodeficiency 103, Susceptibility To Fungal Infections	Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ...	OMIM:212050
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Thoracic scoliosis, Lumbar hyperlordosis, Dilated cardiomyopathy, Thoracic kyphosis, Left ventric...	ORPHA:206546
Immunodeficiency 105	Impaired lymphocyte transformation with phytohemagglutinin, Pancytopenia, Absence of lymph node g...	OMIM:619924
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Progressive hypotric...	OMIM:225060
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Genital ulcers, S...	OMIM:602450
Autoinflammation With Episodic Fever And Lymphadenopathy	Hepatomegaly, Microcytic anemia, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy	OMIM:618852
Pseudopelade Of Brocq	Sparse scalp hair, Alopecia, Abnormal hair morphology, Abnormality of the nail, Aplasia/Hypoplasi...	ORPHA:129
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Autoimmune thrombocytopenia, Follicular hyp...	OMIM:619846
Braddock-Carey Syndrome 1	Sparse hair, Curly hair	OMIM:619980
Hypotrichosis 14	Sparse pubic hair, Short eyelashes, Absent axillary hair, Sparse hair, Sparse body hair	OMIM:618275
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome	Abnormal mitral valve morphology, Cryptorchidism, Anemia, Hyperlordosis	ORPHA:1192
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8	Kyphosis, Scoliosis, Hyperlordosis	OMIM:600175
Adenocarcinoma Of The Esophagus	Lymphadenopathy	ORPHA:99976
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Mediasti...	OMIM:300853
Rigid Spine Syndrome	Hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:97244
Amaurosis-Hypertrichosis Syndrome	Abnormal eyelash morphology, Synophrys, Coarse hair, Thick eyebrow	ORPHA:1021
Mast Cell Sarcoma	Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy, Mastocytosis	ORPHA:66661
Pelvic Hypoplasia With Lower-Limb Arthrogryposis	Lumbar hyperlordosis, Scoliosis	OMIM:602484
Lymphoproliferative Syndrome 3	Hepatosplenomegaly, Reduced natural killer cell count, Lymphadenopathy	OMIM:618261
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Increased proportion of memory T cells, Hepatosplenomegaly, Increased B cell count, Lymphadenopathy	OMIM:618982
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3	Hyperlordosis	OMIM:607088
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Scoliosis, Hyperlordosis	OMIM:611067
Spinal Muscular Atrophy, Infantile, James Type	Lumbar hyperlordosis, Scoliosis	OMIM:619042
Noonan Syndrome 8	Curly hair	OMIM:615355
Ras-Associated Autoimmune Leukoproliferative Disorder	Hemolytic anemia, Pancytopenia, Hepatomegaly, Autoimmune thrombocytopenia, Follicular hyperplasia...	OMIM:614470
Congenital Myopathy 16	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	OMIM:618524
Spastic Paraplegia 87, Autosomal Recessive	Lumbar hyperlordosis	OMIM:619966
Myopathy, Distal, 1	Dilated cardiomyopathy, Lumbar hyperlordosis, Left atrial enlargement, Scoliosis	OMIM:160500
Mu-Heavy Chain Disease	Hepatomegaly, Abnormal B cell count, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:100024
Tricho-Retino-Dento-Digital Syndrome	Uncombable hair, Sparse hair	ORPHA:1264
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Abnormality of the tonsils, Secundum atrial septal defect, Decreased proportion of CD8-positive T...	OMIM:611926
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Hepatomegaly, Decreased proportion of marginal zone B cells, Autoimmune thrombocytopenia, Splenom...	OMIM:619375
Familial Anetoderma	Lumbar hyperlordosis	ORPHA:228277
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1	Cardiomyopathy, Lumbar hyperlordosis, Spinal rigidity	OMIM:609308
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Fluctuating splenomegaly, Neutropenia i...	OMIM:619220
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa...	OMIM:620135
Burkitt Lymphoma	Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th...	ORPHA:543
Naxos Disease	Curly hair, Subungual hyperkeratosis, Sparse eyebrow, Onycholysis, Nail dystrophy, Woolly hair, S...	OMIM:601214
Absence Deformity Of Leg-Cataract Syndrome	Scoliosis, Hyperlordosis	ORPHA:2310
Hypertrichosis, Congenital Anterior Cervical, With Peripheral Sensory And Motor Neuropathy	Anterior cervical hypertrichosis	OMIM:239840
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of CD4-pos...	OMIM:618534
Metaphyseal Chondrodysplasia, Spahr Type	Scoliosis, Hyperlordosis	ORPHA:2501
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Macroorchidism, Kyphoscoliosis, Cardiomegaly	OMIM:300886
Masa Syndrome	Kyphosis, Hyperlordosis	OMIM:303350
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16	Lumbar hyperlordosis	ORPHA:280333
Arrhythmogenic Right Ventricular Dysplasia, Familial, 12	Woolly hair	OMIM:611528
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	OMIM:603552
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:86893
Noonan Syndrome 7	Curly hair, Low posterior hairline	OMIM:613706
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Hyperlordosis, Cryptorchidism, Scoliosis, Left ventricular hypertrophy, Micropenis	OMIM:613156
Smith-Kingsmore Syndrome	Curly hair	OMIM:616638
Generalized Eruptive Histiocytosis	Histiocytosis, Leukemia, Hypereosinophilia, Lymphadenopathy	ORPHA:157991
Hypotrichosis-Intellectual Disability, Lopes Type	Sparse hair	ORPHA:2266
Congenital Toxoplasmosis	Hepatomegaly, Cardiomegaly, Lymphadenopathy, Anemia, Thrombocytopenia	ORPHA:858
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia	Cervical lymphadenopathy, B lymphocytopenia, Abnormally low T cell receptor excision circle level	OMIM:618987
Congenital Myopathy 2A, Typical, Autosomal Dominant	Dilated cardiomyopathy, Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:161800
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Hypergonadotropic hypogonadism, Hyperlordosis, Cryptorchidism, Kyphosis, Polycystic ovaries, Decr...	ORPHA:3085
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:616756
Trichothiodystrophy 4, Nonphotosensitive	Brittle hair, Sparse eyelashes, Abnormality of hair texture, Concave nail, Nail dystrophy, Small ...	OMIM:234050
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy	Hyperlordosis	ORPHA:363454
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:97290
Familial Papillary Or Follicular Thyroid Carcinoma	Goiter, Nodular goiter, Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology	ORPHA:319487
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:615290
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Hepatomegaly, Autoimmune hemoly...	OMIM:615559
King-Denborough Syndrome	Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Bilateral cryptorchi...	OMIM:619542
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Abscess, Abnormal CD4:CD8 ratio, Splenomegaly, Neutropenia, Lymphadenopathy, B lymphocytopenia, I...	OMIM:150550
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Curly hair	OMIM:300986
Striatonigral Degeneration, Childhood-Onset	Lumbar hyperlordosis	OMIM:617054
Ectodermal Dysplasia-Sensorineural Deafness Syndrome	Sparse hair, Coarse hair, Brittle hair	ORPHA:1883
Bazex-Dupre-Christol Syndrome	Coarse hair, Sparse hair, Trichoepithelioma, Pili torti, Trichorrhexis nodosa	OMIM:301845
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair	ORPHA:457485
Crisponi/Cold-Induced Sweating Syndrome 2	Lumbar hyperlordosis, Thoracolumbar scoliosis	OMIM:610313
Noonan Syndrome 4	Sparse eyebrow, Curly hair, High anterior hairline	OMIM:610733
Autosomal Dominant Spondylocostal Dysostosis	Hyperlordosis, Short neck, Abnormal sacrum morphology, Abnormal morphology of female internal gen...	ORPHA:1797
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Ritscher-Schinzel Syndrome 4	Curly hair	OMIM:619435
Immunodeficiency With Hyper-Igm, Type 5	Epididymitis, Lymphadenopathy	OMIM:608106
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Curly hair, Thick eyebrow, Highly arched eyebrow, Low posterior hairline	OMIM:617360
Diastrophic Dysplasia	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic cervical vertebrae	OMIM:222600
Mucolipidosis Iii Gamma	Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis	OMIM:252605
Anauxetic Dysplasia 2	Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin...	OMIM:617396
Alpha-Heavy Chain Disease	Hepatomegaly, Splenomegaly, Anemia, Lymphadenopathy	ORPHA:100025
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair	ORPHA:85184
Leukocyte Adhesion Deficiency, Type Iii	Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Abnormal lymph node morph...	OMIM:612840
Intellectual Developmental Disorder, Autosomal Dominant 23	Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Scoliosis	OMIM:615761
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3	Thoracic scoliosis, Hyperlordosis	ORPHA:62
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Hyperlordosis, Short neck, Kyphosis, Fused cervical vertebrae, Abnormal reticulocyte...	ORPHA:2522
Chops Syndrome	Curly hair, Thick hair, Synophrys, Coarse hair, Long eyelashes, Thick eyebrow	OMIM:616368
Odontotrichoungual-Digital-Palmar Syndrome	Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Noonan Syndrome 14	Sparse hair, Curly hair, Sparse eyebrow, Low posterior hairline	OMIM:619745
Immunodeficiency 32A	Lymphadenitis, Granuloma, Lymphadenopathy	OMIM:614893
Follicular Lymphoma	Splenomegaly, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:545
Nemaline Myopathy 5C, Autosomal Dominant	Scoliosis, Hyperlordosis	OMIM:620389
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia	OMIM:241090
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Right ventricular hypertrophy, Lumbar hyperlordosis, Scoliosis, Abnormal macrophage morphology	ORPHA:353
Ck Syndrome	Kyphosis, Scoliosis, Hyperlordosis	OMIM:300831
Dna2-Related Mitochondrial Dna Deletion Syndrome	Hyperlordosis	ORPHA:352470
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, Anemia, Hemophagocytosis, Thrombocytopenia	OMIM:613101
Immunodeficiency 27A	Splenomegaly, Leukocytosis, Enlarged mesenteric lymph node, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:209950
Trichohepatoenteric Syndrome 2	Brittle hair, Uncombable hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:614602
Fg Syndrome 3	Sparse hair, Frontal upsweep of hair, Fine hair	OMIM:300406
Cataract-Intellectual Disability-Hypogonadism Syndrome	Cryptorchidism, Hypogonadotropic hypogonadism, Scoliosis, Hyperlordosis	ORPHA:1387
Hypochondroplasia	Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:429
Myasthenic Syndrome, Congenital, 5	Scoliosis, Hyperlordosis	OMIM:603034
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hepatomegaly, Lumbar hyperlordosis, Short neck, Splenomegaly, Platyspondyly, Scoliosis, Vertebral...	OMIM:602557
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Lymphadenopathy	OMIM:617772
Peeling Skin Syndrome 1	Brittle hair, Onycholysis, Nail dystrophy	OMIM:270300
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, Decreased CD4:CD8 ratio	OMIM:618495
Pachyonychia Congenita 2	Sparse scalp hair, Dry hair, Subungual hyperkeratosis, Sparse eyebrow, Nail dystrophy, Nail dyspl...	OMIM:167210
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Absence of lymph node germinal center, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Absent ...	ORPHA:277
Hypotrichosis And Recurrent Skin Vesicles	Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Leukonychia, Sparse ha...	OMIM:613102
Trichothiodystrophy 6, Nonphotosensitive	Tiger tail banding, Brittle hair, Slow-growing hair	OMIM:616943
Spondyloepimetaphyseal Dysplasia, Shohat Type	Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi...	ORPHA:93352
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ...	OMIM:619802
Cold Agglutinin Disease	Back pain, Hemolytic anemia, Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:56425
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair	ORPHA:2221
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8	Woolly hair	OMIM:607450
Schnitzler Syndrome	Hepatomegaly, Splenomegaly, Leukocytosis, Lymphadenopathy, Anemia	ORPHA:37748
Myasthenic Syndrome, Congenital, 16	Hyperlordosis	OMIM:614198
Autoimmune Lymphoproliferative Syndrome	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:601859
Nemaline Myopathy 7	Lumbar hyperlordosis, Kyphoscoliosis	OMIM:610687
Ectodermal Dysplasia 11A, Hypohidrotic/Hair/Tooth Type, Autosomal Dominant	Sparse hair, Brittle hair, Absent nipple, Absent hair	OMIM:614940
Atelosteogenesis, Type Ii	Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef...	OMIM:256050
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Lumbar hyperlordosis, Spinal rigidity, Cardiomyopathy, Scoliosis, Left ventricular hypertrophy	ORPHA:86812
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Abnormality of the lymphatic system, Abnormal lymph n...	ORPHA:54251
Oculodentodigital Dysplasia	Curly hair, Brittle hair, Slow-growing hair, Abnormal fingernail morphology, Fine hair, Sparse ha...	ORPHA:2710
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Hepatomegaly, Decreased proportion of naive T cells, Lymph node hypoplasia, Abnormally low T cell...	ORPHA:276
Immunodeficiency 54	Hepatomegaly, Splenomegaly, Adrenocorticotropic hormone excess, Lymphadenopathy, Reduced natural ...	OMIM:609981
Lymphoproliferative Syndrome 1	Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Pericardial...	OMIM:613011
Immunodeficiency 109 With Lymphoproliferation	Splenomegaly, Pancytopenia, Generalized lymphadenopathy, Absent circulating B cells	OMIM:620282
Olmsted Syndrome 2	Sparse hair, Woolly hair, Alopecia universalis	OMIM:619208
Roifman Syndrome	Hepatomegaly, Biconvex vertebral bodies, Noncompaction cardiomyopathy, Ventricular septal defect,...	OMIM:616651
Caspase 8 Deficiency	Splenomegaly, Decreased CD4:CD8 ratio, Lymphadenopathy	OMIM:607271
Acrocapitofemoral Dysplasia	Ovoid vertebral bodies, Scoliosis, Hyperlordosis	ORPHA:63446
Familial Cold Autoinflammatory Syndrome 2	Splenomegaly, Leukocytosis, Lymphadenopathy	OMIM:611762
Mucopolysaccharidosis, Type Iiib	Hepatomegaly, Cardiomegaly, Splenomegaly, Ovoid thoracolumbar vertebrae, Asymmetric septal hypert...	OMIM:252920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Patent foramen ovale, Hyperlordosis	OMIM:615156
Infantile Sialic Acid Storage Disease	Hepatomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiomegaly	OMIM:269920
Immunodeficiency With Hyper-Igm, Type 3	Neutropenia, Absence of lymph node germinal center	OMIM:606843
Trichohepatoenteric Syndrome 1	Curly hair, Brittle hair, Fine hair, Sparse hair, Woolly hair, Trichorrhexis nodosa	OMIM:222470
Rosaï-Dorfman Disease	Anemia, Lymphadenopathy	ORPHA:158014
Spondyloepimetaphyseal Dysplasia, Handigodu Type	Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Abnormality of the ...	ORPHA:99642
Autoimmune Lymphoproliferative Syndrome, Type Iia	Hepatomegaly, Autoimmune hemolytic anemia, Chronic noninfectious lymphadenopathy, Eosinophilia, F...	OMIM:603909
Combined Immunodeficiency Due To Zap70 Deficiency	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Absence of CD8-positive T...	ORPHA:911
Craniofrontonasal Syndrome	Ridged nail, Curly hair, Split nail, Widow's peak, Low posterior hairline, Unilateral breast hypo...	OMIM:304110
Congenital Muscular Dystrophy Due To Lmna Mutation	Spinal rigidity, Hyperlordosis	ORPHA:157973
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Eosinophilia, Autoimmune thrombocytopenia, Decreased proportion of CD8-positive T cells, Lymphade...	ORPHA:169154
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Woolly hair, Sparse eyebrow, Trichorrhexis nodosa	OMIM:619691
Pfapa Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:42642
Immunodeficiency, Common Variable, 1	Hepatomegaly, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Decreased propo...	OMIM:607594
Osteopenia-Intellectual Disability-Sparse Hair Syndrome	Sparse scalp hair, Fine hair	ORPHA:2324
Pseudodiastrophic Dysplasia	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, T...	OMIM:264180
Indolent Systemic Mastocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Increased proportion of CD25+ mast cells, Mastocytos...	ORPHA:98848
Laryngeal Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Adrenocorticotropic hormone excess	ORPHA:100083
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Curly hair, Slow-growing hair, Highly arched eyebrow, Low posterior hairline, Coarse hair, Sparse...	OMIM:617506
Mucopolysaccharidosis, Type Iva	Hepatomegaly, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlordosis, Short neck,...	OMIM:253000
Trichohepatoneurodevelopmental Syndrome	Curly hair, Synophrys, Coarse hair, Long eyelashes, Hypoplastic nipples, Woolly hair, Thoracic hy...	OMIM:618268
Classic Mycosis Fungoides	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:2584
Congenital Myopathy 8	Scoliosis, Cardiomegaly	OMIM:618654
Progeroid Syndrome, Petty Type	Brittle hair, Abnormal hair morphology, Abnormality of the nail, Long eyelashes in irregular rows...	ORPHA:2963
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Right ventricular dilatation, Right ventricular hypertrophy, Scoliosis, Hyperlordosis	OMIM:253700
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Kyphoscoliosis, Hyperlordosis, Cryptorchidism, Increased vertebral height, Abnormal vertebral mor...	OMIM:616817
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Curly hair, Slow-growing hair, Absent eyelashes, Low posterior hairline, Sparse hair	OMIM:115150
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis	Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vertebrae, Scoliosis	OMIM:618363
Immunodeficiency With Hyper-Igm, Type 4	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Absence of lymph node germinal center	OMIM:608184
Immunodeficiency, Common Variable, 2	Hepatomegaly, Splenomegaly, Follicular hyperplasia, Lymphadenopathy	OMIM:240500
Pseudo-Torch Syndrome 3	Cardiomegaly, Lymphadenitis, Leukocytosis, Congenital thrombocytopenia, Anemia	OMIM:618886
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1	Spinal rigidity, Hyperlordosis	ORPHA:267
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, External genital hypoplasia, Lumba...	ORPHA:3041
Gm1 Gangliosidosis	Ventricular septal defect, Hyperlordosis, Kyphosis, Splenomegaly, Abnormal form of the vertebral ...	ORPHA:354
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Hyperlordosis	OMIM:618129
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant	Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v...	OMIM:184100
Hereditary Mucoepithelial Dysplasia	Sparse hair, Alopecia, Fine hair	ORPHA:1839
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits	Lumbar hyperlordosis, Scoliosis	OMIM:618167
Immunodeficiency 7	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Hypereosinophilia, Lymphadenopathy, Neut...	OMIM:615387
Cardiomyopathy, Dilated, With Woolly Hair, Keratoderma, And Tooth Agenesis	Woolly hair, Fragile nails, Nail dystrophy, Leukonychia	OMIM:615821
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodi...	OMIM:619698
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Brittle hair	ORPHA:50812
Craniofrontonasal Dysplasia	Abnormality of hair texture, Widow's peak, Low posterior hairline, Ridged fingernail, Woolly hair	ORPHA:1520
Activated Pi3K-Delta Syndrome	Hepatomegaly, Splenomegaly, Recurrent tonsillitis, Lymphadenopathy, B lymphocytopenia	ORPHA:397596
Vulto-Van Silfhout-De Vries Syndrome	Widow's peak, Horizontal eyebrow, Fine hair	OMIM:615828
Roifman Syndrome	Noncompaction cardiomyopathy, Biconvex vertebral bodies, Hypogonadotropic hypogonadism, Eosinophi...	ORPHA:353298
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5	Vertebral fusion, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis	OMIM:607155
Fish-Eye Disease	Hepatomegaly, Splenomegaly, Lymphadenopathy	ORPHA:79292
Fucosidosis	Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,...	OMIM:230000
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Scoliosis, Hyperlordosis	OMIM:617760
Weaver Syndrome	Deep-set nails, Abnormal fingernail morphology, Thin nail, Hypoplastic toenails, Fine hair	ORPHA:3447
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Vertebral fusion, Kyphosis, Scoliosis, Hyperlordosis	OMIM:606612
Congenital Myopathy 4A, Autosomal Dominant	Dilated cardiomyopathy, Lumbar hyperlordosis, Scoliosis	OMIM:255310
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Deafness-Lymphedema-Leukemia Syndrome	Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke...	ORPHA:3226
Neuraminidase Deficiency	Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom...	OMIM:256550
Ck Syndrome	Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:251383
Zinc Deficiency, Transient Neonatal	Alopecia	OMIM:608118
Nemaline Myopathy 2	Spinal rigidity, Scoliosis, Hyperlordosis	OMIM:256030
Lymphoproliferative Syndrome, X-Linked, 1	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Lymphocytosis, Hemoph...	OMIM:308240
Myopathy, Centronuclear, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:255200
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Rodrigues Blindness	Sparse hair, Fine hair	OMIM:268320
Trichothiodystrophy 5, Nonphotosensitive	Brittle hair, Slow-growing hair, Sparse eyebrow, Reduced hair sulfur content, Sparse hair, Tiger ...	OMIM:300953
Jansen-De Vries Syndrome	Ventricular septal defect, Bicuspid aortic valve, Hyperlordosis	OMIM:617450
Tularemia	Brain abscess, Abnormal nasopharyngeal adenoid morphology, Leukocytosis, Cervical lymphadenopathy...	ORPHA:3392
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17	Lumbar hyperlordosis	OMIM:613723
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9	Lumbar hyperlordosis	OMIM:613818
Acrogeria	Fine hair	ORPHA:2500
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Curly hair, Sparse scalp hair, Loose anagen hair, Long eyelashes, Sparse hair	OMIM:607721
Leishmaniasis	Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Thrombocytopenia, Lymph...	ORPHA:507
Myasthenic Syndrome, Congenital, 14	Scoliosis, Hyperlordosis	OMIM:616228
Amelo-Onycho-Hypohidrotic Syndrome	Hypoplastic toenails, Onycholysis, Abnormal fingernail morphology, Fine hair	ORPHA:1028
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Kyphoscoliosis, Cardiomegaly, Kyphosis, Cardiom...	OMIM:300280
Hemochromatosis, Type 1	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoospermia, Cardiomyopa...	OMIM:235200
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Mediastinal lymphadenopathy, Ovarian...	ORPHA:83469
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Atrial septal defec...	OMIM:618870
Silver-Russell Syndrome Due To 7P11.2P13 Microduplication	High anterior hairline, Long eyelashes, Fine hair	ORPHA:231137
Isolated Anencephaly	Thymus hyperplasia	ORPHA:563609
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Pappenheimer bodies, Sideroblastic anemia, Microcytic anemia, Hyperlordosis, Hypochromic anemia, ...	OMIM:600462
Lymphoproliferative Syndrome 2	Hepatomegaly, Pancytopenia, Aplastic anemia, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly, H...	OMIM:615122
Immunodeficiency With Hyper-Igm, Type 2	Lymphadenopathy	OMIM:605258
Griscelli Syndrome Type 2	Hepatomegaly, Pancytopenia, Splenomegaly, Lymphadenopathy, Hemophagocytosis, Neutropenia	ORPHA:79477
Noonan Syndrome 2	Sparse eyebrow, Curly hair, Low posterior hairline	OMIM:605275
Mulchandani-Bhoj-Conlin Syndrome	Scoliosis, Hyperlordosis	OMIM:617352
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Lumbar hyperlordosis	OMIM:609325
Cinca Syndrome	Eosinophilia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Anemia	OMIM:607115
Noonan Syndrome 10	Sparse eyebrow, Curly hair	OMIM:616564
Spondyloepimetaphyseal Dysplasia, Strudwick Type	Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation	OMIM:184250
Immunodeficiency 98 With Autoinflammation, X-Linked	Hepatomegaly, Autoimmune hemolytic anemia, Splenomegaly, Lymphadenopathy, B lymphocytopenia, Bone...	OMIM:301078
Myopathic Ehlers-Danlos Syndrome	Kyphosis, Kyphoscoliosis, Scoliosis, Hyperlordosis	ORPHA:536516
Giant Axonal Neuropathy	Woolly hair, Pili canaliculi	ORPHA:643
Systemic-Onset Juvenile Idiopathic Arthritis	Hepatomegaly, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:85414
Three M Syndrome 1	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta, Decreas...	OMIM:273750
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Abnormally low T cell receptor excision circle level, Pancytopenia, Generalized lymphadenopathy, ...	OMIM:618986
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Brittle hair, Nail dystrophy	ORPHA:75389
Sickle Cell Disease	Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Cho...	OMIM:603903
Autosomal Recessive Centronuclear Myopathy	Left ventricular hypertrophy, Abnormal heart valve morphology, Hyperlordosis	ORPHA:169186
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type	Lumbar hyperlordosis	ORPHA:156728
Chand Syndrome	Curly hair, Nail dysplasia	ORPHA:1401
Cohen Syndrome	Thoracic scoliosis, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, ...	OMIM:216550
Joubert Syndrome 37	Hepatomegaly, Lumbar hyperlordosis, Cryptorchidism, Micropenis, Decreased testicular size	OMIM:619185
Developmental And Speech Delay Due To Sox5 Deficiency	Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae	ORPHA:313892
Spondyloenchondrodysplasia With Immune Dysregulation	Lumbar hyperlordosis, Kyphoscoliosis, Autoimmune thrombocytopenia, Increased intervertebral space...	OMIM:607944
Trichotillomania	Alopecia	OMIM:613229
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Scoliosis, Hyperlordosis	ORPHA:2511
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Hemolytic anemia, Abscess, Perianal abscess, Splenomegaly, Lymphadenitis, Recurrent tonsillitis, ...	OMIM:618935
Pleural Mesothelioma	Hepatomegaly, Lymphadenopathy	ORPHA:50251
Usmani-Riazuddin Syndrome, Autosomal Dominant	Lumbar hyperlordosis, Thoracic kyphosis	OMIM:619467
X-Linked Emery-Dreifuss Muscular Dystrophy	Back pain, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Scoliosis, Hypertrophic cardiomy...	ORPHA:98863
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Microcytic anemia, Short neck, Hepatosplenomegaly, Lymphadenopathy, Scoliosis	OMIM:619750
Thoracomelic Dysplasia	Hyperlordosis, Short neck	ORPHA:1803
Progressive Pseudorheumatoid Arthropathy Of Childhood	Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,...	ORPHA:1159
Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis, Hypertrop...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis, Hypertrop...	ORPHA:98853
Heme Oxygenase 1 Deficiency	Hemolytic anemia, Hepatomegaly, Asplenia, Cervical lymphadenopathy, Lymphadenopathy, Coombs-posit...	OMIM:614034
Attrv122I Amyloidosis	Cardiomegaly, Spinal canal stenosis, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ven...	ORPHA:85451
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Back pain, Spinal rigidity, Hyperlordosis, Kyphosis, Dilated cardiomyopathy, Scoliosis	ORPHA:98855
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Back pain, Lumbar hyperlordosis	OMIM:167320
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ...	ORPHA:750
Myopathy, Scapulohumeroperoneal	Scoliosis, Hyperlordosis	OMIM:616852
Satoyoshi Syndrome	Hyperlordosis, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of the uterus, Abno...	ORPHA:3130
Adult Syndrome	Sparse scalp hair, Alopecia, Absent nipple, Nail pits, Fine hair, Hypoplastic nipples, Abnormalit...	ORPHA:978
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i...	OMIM:313400
Lateral Meningocele Syndrome	Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Abnormal form of ...	ORPHA:2789
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Cardiomyopathy, Abnormality of the vertebral column, Hyperlordosis	ORPHA:52430
Primary Myelofibrosis	Hepatomegaly, Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Thrombocyto...	ORPHA:824
Classic Hodgkin Lymphoma	Hepatomegaly, Splenomegaly, Bone marrow hypocellularity, Lymphadenopathy	ORPHA:391
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Plat...	ORPHA:582
Neuropathy, Congenital, With Arthrogryposis Multiplex	Hyperlordosis	OMIM:162370
Hereditary Sensory And Autonomic Neuropathy Type 2	Hyperlordosis	ORPHA:970
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Fine hair	ORPHA:3236
Cutis Laxa, Autosomal Recessive, Type Iie	Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:619451
Myopathy, Centronuclear, 1	Hyperlordosis	OMIM:160150
Schimke Immunoosseous Dysplasia	Pancytopenia, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Bilateral cryptorchidism,...	OMIM:242900
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans	Lumbar hyperlordosis	OMIM:165800
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Schwartz-Jampel Syndrome, Type 1	Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Short neck, Coronal cleft vertebrae, Pla...	OMIM:255800
Odontoonychodermal Dysplasia	Ridged nail, Sparse scalp hair, Dry hair, Short nail, Thin nail, Sparse eyebrow, Fine hair, Nail ...	OMIM:257980
Gamma-Heavy Chain Disease	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocyto...	ORPHA:100026
Sulfite Oxidase Deficiency, Isolated	Fine hair	OMIM:272300
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f...	OMIM:618652
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, Hypoplastic toenai...	ORPHA:444077
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome	Uncombable hair, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Abnormal hair morphology	ORPHA:3082
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Arthrogryposis, Distal, Type 3	Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Cryptorchidism, Scoliosis	OMIM:114300
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness	Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr...	OMIM:609616
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Thoracic kyphoscoliosis, Pancytopenia, Lumbar hyperlordosis, Hepatomegaly, Hypersplenism, Increas...	OMIM:613385
Netherton Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Abnormal hair morphology, Fine hair, Trichor...	ORPHA:634
Intellectual Disability And Myopathy Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:619719
Mucopolysaccharidosis, Type Ivb	Hepatomegaly, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis...	OMIM:253010
Mucopolysaccharidosis, Type Iiia	Synophrys, Coarse hair, Hirsutism	OMIM:252900
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Hyperlordosis	OMIM:613157
Rhizomelic Dysplasia, Patterson-Lowry Type	Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:2831
Menkes Disease	Sparse hair, Alopecia, Brittle hair	OMIM:309400
Lethal Congenital Contracture Syndrome 10	Thoracic scoliosis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Short neck, Hypopl...	OMIM:617022
Schimke Immuno-Osseous Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Thrombocytopenia, Platyspondyly, Decrea...	ORPHA:1830
Cantu Syndrome	Bicuspid aortic valve, Ovoid vertebral bodies, Short neck, Cardiomegaly, Pericardial effusion, Cu...	OMIM:239850
Purine Nucleoside Phosphorylase Deficiency	Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Splenomegaly, Ne...	OMIM:613179
Rapp-Hodgkin Syndrome	Sparse eyelashes, Slow-growing hair, Supernumerary nipple, Sparse eyebrow, Fine hair, Progressive...	OMIM:129400
Immunodeficiency 27B	Generalized lymphadenopathy	OMIM:615978
Muscular Dystrophy, Duchenne Type	Cardiomyopathy, Dilated cardiomyopathy, Scoliosis, Hyperlordosis	OMIM:310200
2Q32Q33 Microdeletion Syndrome	Sparse hair, Fine hair	ORPHA:251019
Trichodermodysplasia-Dental Alterations Syndrome	Sparse scalp hair, Brittle hair, Fine hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the...	ORPHA:3353
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly,...	ORPHA:98850
Omenn Syndrome	Hepatomegaly, Eosinophilia, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal lymphocyte morp...	ORPHA:39041
Wieacker-Wolff Syndrome	Hyperlordosis, Kyphosis, Scoliosis, Short neck	OMIM:314580
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ...	ORPHA:508533
Brachycephaly, Trichomegaly, And Developmental Delay	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Thick eyebrow	OMIM:617412
Hypochondroplasia	Widened interpedicular distance, Lumbar hyperlordosis	OMIM:146000
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Lymphadenopathy, B lymphocytopenia, Decreased proportion of memory B cel...	OMIM:618048
Amyotrophic Lateral Sclerosis 27, Juvenile	Scoliosis, Hyperlordosis	OMIM:620285
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Kyphoscoliosis, Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, ...	ORPHA:324410
Spondyloepimetaphyseal Dysplasia, Irapa Type	Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum	OMIM:271650
Adult-Onset Still Disease	Hepatomegaly, Pericarditis, Neutrophilia, Generalized lymphadenopathy, Splenomegaly, Leukocytosis...	ORPHA:829
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Right ventricular dilatation, Hepatomegaly, Hyperlordosis	ORPHA:369840
Pycnodysostosis	Decreased response to growth hormone stimulation test, Hyperlordosis, Kyphosis, Hepatosplenomegal...	ORPHA:763
Cyclic Neutropenia	Cyclic neutropenia, Perianal abscess, Cervical lymphadenopathy, Recurrent tonsillitis, Lymphadeno...	ORPHA:2686
Distal Duplication 6P	Abnormal eyelash morphology, Fine hair, Abnormal hair quantity	ORPHA:1745
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation te...	OMIM:602782
Sézary Syndrome	Hepatomegaly, Splenomegaly, Abnormal lymphocyte morphology, Lymphadenopathy	ORPHA:3162
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:101096
Felty Syndrome	Hepatomegaly, Pericarditis, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Bone marrow hypocell...	ORPHA:47612
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyelashes, Sparse eyebrow, Nail dystrophy, Woolly hair	OMIM:605676
Facioscapulohumeral Dystrophy	Hyperlordosis	ORPHA:269
Immunodeficiency 91 And Hyperinflammation	Hepatomegaly, Neutrophilia, Lymphadenopathy, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, T...	OMIM:619644
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Curly hair, Low anterior hairline, Long eyelashes, Horizontal eyebrow, High anterior hairline, Th...	OMIM:619950
Mucopolysaccharidosis, Type Iiic	Synophrys, Coarse hair, Hirsutism, Hypertrichosis	OMIM:252930
Oculoskeletodental Syndrome	Thoracic kyphosis, Scoliosis, Hyperlordosis	ORPHA:557003
Lig4 Syndrome	Hepatomegaly, Hypoplasia of penis, Pancytopenia, Cryptorchidism, Leukocytosis, Acute leukemia, Ly...	ORPHA:99812
Lipodystrophy, Congenital Generalized, Type 4	Hepatomegaly, Spinal rigidity, Hyperlordosis, Splenomegaly, Scoliosis	OMIM:613327
Typical Nemaline Myopathy	Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis	ORPHA:171436
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y	Lumbar hyperlordosis	ORPHA:435387
Gaucher Disease, Type Iiic	Hepatomegaly, Pancytopenia, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve ...	OMIM:231005
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Hepatomegaly, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenop...	OMIM:616100
Spondyloepiphyseal Dysplasia Tarda	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop...	ORPHA:93284
Griscelli Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukopenia, Bone marrow ...	ORPHA:381
Intellectual Developmental Disorder, Autosomal Dominant 52	Lumbar hyperlordosis, Bilateral cryptorchidism, Cryptorchidism, Lumbar scoliosis, Cervical C2/C3 ...	OMIM:617796
American Trypanosomiasis	Hepatomegaly, Splenomegaly, Myocarditis, Lymphadenopathy, Cardiomyopathy	ORPHA:3386
Spondylometaphyseal Dysplasia, Kozlowski Type	Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the o...	ORPHA:93314
Niemann-Pick Disease, Type A	Hepatomegaly, Bone-marrow foam cells, Microcytic anemia, Splenomegaly, Lymphadenopathy, Sea-blue ...	OMIM:257200
Steel Syndrome	Lumbar hyperlordosis, Scoliosis	OMIM:615155
Trichothiodystrophy 1, Photosensitive	Brittle hair, Trichoschisis, Fine hair, Fragile nails, Nail dystrophy, Small nail, Sparse hair, T...	OMIM:601675
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Ring Chromosome 12 Syndrome	Lumbar hyperlordosis, Secundum atrial septal defect, Cryptorchidism, Glandular hypospadias, Uteri...	ORPHA:1439
Netherton Syndrome	Sparse eyebrow, Sparse scalp hair, Brittle hair, Brittle scalp hair	OMIM:256500
Hall-Riggs Syndrome	Coarse hair, Slow-growing hair, Thick hair	ORPHA:2107
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Lumbar hyperlordosis, Short neck, Thrombocytopenia, Enlarged kidney, Hepatosplenomegaly, Lumbar k...	ORPHA:505248
Desbuquois Dysplasia 1	Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis	OMIM:251450
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia, Lymphadenopathy	OMIM:612783
Cahmr Syndrome	Generalized hypertrichosis	OMIM:211770
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10	Woolly hair	OMIM:610193
3M Syndrome	Hypospadias, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis	ORPHA:2616
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Hepatomegaly, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis	OMIM:618443
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Splenomegaly, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Lymphadenopathy,...	OMIM:615895
Three M Syndrome 3	Increased vertebral height, Hyperlordosis, Short neck	OMIM:614205
Agammaglobulinemia, X-Linked	Epididymitis, Cor pulmonale, Lymph node hypoplasia, T lymphocytopenia, B lymphocytopenia, Neutrop...	OMIM:300755
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Abnormality of the spleen, Lymphadenopathy, Myeloproliferative disorder, Lymphocytosis	ORPHA:79456
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Dry hair, Brittle hair, Nail dystrophy	ORPHA:93947
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Scapuloperoneal Spinal Muscular Atrophy	Kyphosis, Scoliosis, Hyperlordosis	OMIM:181405
Mycosis Fungoides	Lymphadenopathy	OMIM:254400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4	Hyperlordosis	OMIM:611588
Tonne-Kalscheuer Syndrome	Concave nail, Small nail, Fine hair	OMIM:300978
Pseudomyxoma Peritonei	Lymphadenopathy	ORPHA:26790
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Hyperlordosis, Abnormal form of the vertebral bodies, Short neck	ORPHA:3218
Macrophage Activation Syndrome	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Abnormal natu...	ORPHA:158061
3Mc Syndrome	Supernumerary nipple, Hyperlordosis, Bilateral cryptorchidism, Prominent coccyx, Scoliosis, Spina...	ORPHA:293843
Rhabdoid Tumor	Thrombocytopenia, Anemia, Lymphadenopathy	ORPHA:69077
Alpha-N-Acetylgalactosaminidase Deficiency	Scoliosis, Cardiomegaly	ORPHA:3137
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Spinal rigidity, Cardiomegaly, Right ventricular hypertrophy, Hyperlordosis	ORPHA:268
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Vertebral segmentation defect, Scoliosis, Hyperlordosis	ORPHA:1323
Cartilage-Hair Hypoplasia	Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Macrocytic anemia, Lumba...	OMIM:250250
Proteasome-Associated Autoinflammatory Syndrome 4	Hepatomegaly, Splenomegaly, Autoimmune hemolytic anemia, Lymphadenopathy	OMIM:619183
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel...	OMIM:606367
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis	OMIM:156500
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven...	OMIM:306955
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Hypoplasia of penis, Hypogonadotropic hypogonadism, Hyperlordosis	ORPHA:3068
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy...	ORPHA:457395
Cutis Laxa, Autosomal Recessive, Type Iia	Coarse hair, Brittle hair, Abnormality of hair texture	OMIM:219200
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Hypopituitarism, Increased B cell count, Absent peripheral lymph nodes in presence of infection, ...	ORPHA:98813
Cap Myopathy	Thoracic scoliosis, Lumbar hyperlordosis, Mitral valve prolapse	ORPHA:171881
Cinca Syndrome	Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Leukocytosis, Lymphadenopathy, Abnormal g...	ORPHA:1451
Pulmonary Non-Tuberculous Mycobacterial Infection	Pericardial effusion, Lymphadenopathy	ORPHA:411703
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Acute Monoblastic/Monocytic Leukemia	Acute monocytic leukemia, Leukocytosis, Cervical lymphadenopathy, Lymphocytosis, Hypochromic anem...	ORPHA:514
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Highly arched eyebrow, Low anterior hairline, Hirsutism, Woolly hair, Broad eyebrow	OMIM:619244
Medullary Thyroid Carcinoma	Nodular goiter, Primary hyperparathyroidism, Pheochromocytoma, Lymphadenopathy	ORPHA:1332
Congenital Myasthenic Syndromes With Glycosylation Defect	Lumbar hyperlordosis, Scoliosis	ORPHA:353327
Anauxetic Dysplasia 1	Lumbar hyperlordosis, Short neck, Platyspondyly, Cervical subluxation, Thoracic kyphosis, Aortic ...	OMIM:607095
Thymic Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma...	ORPHA:97289
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ...	ORPHA:93315
Boutonneuse Fever	Leukopenia, Cervical lymphadenopathy, Thrombocytopenia, Lymphadenopathy	ORPHA:83313
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Camurati-Engelmann Disease	Hepatomegaly, Hyperlordosis, Splenomegaly, Kyphosis, Leukopenia, Abnormality of the vertebral col...	ORPHA:1328
Thyroid Lymphoma	Goiter, Lymphadenopathy	ORPHA:97285
Mogs-Cdg	Hepatomegaly, Thoracic scoliosis, External genital hypoplasia, Cardiomegaly, Hepatosplenomegaly, ...	ORPHA:79330
Congenital Myopathy 10B, Mild Variant	Scoliosis, Hyperlordosis	OMIM:620249
Proteus-Like Syndrome	Splenomegaly, Thymus hyperplasia, Polycystic ovaries, Abnormality of the parathyroid gland	ORPHA:2969
Cartilage-Hair Hypoplasia	Hepatomegaly, Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordo...	ORPHA:175
Chromosome 10Q26 Deletion Syndrome	Lumbar hyperlordosis, Small scrotum, Short neck, Cryptorchidism, Atrial septal defect, Micropenis	OMIM:609625
Costello Syndrome	Deep-set nails, Curly hair, Thin nail, Concave nail, Sparse hair, Fragile nails	OMIM:218040
Idiopathic Pulmonary Hemosiderosis	Hepatomegaly, Iron deficiency anemia, Cardiomegaly, Hepatosplenomegaly	ORPHA:99931
Myotonia Permanens	Hyperlordosis	ORPHA:99735
Zttk Syndrome	Sparse eyebrow, Curly hair, Broad eyebrow	OMIM:617140
Microphthalmia, Lenz Type	Hypospadias, Hyperlordosis, Cryptorchidism, Kyphosis, Scoliosis	ORPHA:568
Dystonia 1, Torsion, Autosomal Dominant	Kyphosis, Scoliosis, Hyperlordosis	OMIM:128100
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Abnormal heart morphology, Cardiomyopathy, Hyperlordosis	ORPHA:26791
Fetal Hydantoin Syndrome	Coarse hair, Hypoplastic fingernail, Low posterior hairline	ORPHA:1912
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Decreased response to growth hormone stimulation test, Hyperlordosis, Hypoplasia of the odontoid ...	OMIM:616007
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly...	ORPHA:98849
Arthrogryposis, Distal, Type 5D	Hypoplastic labia majora, Hyperlordosis, Scoliosis, Short neck	OMIM:615065
Hereditary Amyloidosis With Primary Renal Involvement	Hepatomegaly, Primary testicular failure, Abnormal lymph node morphology, Lymphadenopathy, Hepato...	ORPHA:85450
Incontinentia Pigmenti	Ridged nail, Alopecia, Supernumerary nipple, Nail pits, Fine hair, Coarse hair, Breast aplasia, H...	OMIM:308300
Three M Syndrome 2	Hyperlordosis, Lumbar hyperlordosis, Short neck	OMIM:612921
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome	Pericarditis, Lumbar hyperlordosis, Mitral valve prolapse	ORPHA:2848
Chondrodysplasia Punctata, Autosomal Dominant	Sparse hair, Coarse hair	OMIM:118650
Spondyloepiphyseal Dysplasia Congenita	Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph...	ORPHA:94068
Spondyloepiphyseal Dysplasia Congenita	Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp...	OMIM:183900
Castleman Disease	Generalized lymphadenopathy, Follicular hyperplasia, Mediastinal lymphadenopathy, Thrombocytopeni...	ORPHA:160
Jaberi-Elahi Syndrome	Brittle hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:617988
Combined Oxidative Phosphorylation Deficiency 41	Anemia, Cardiomegaly	OMIM:618838
Scrub Typhus	Myocarditis, Splenomegaly, Lymphadenopathy	ORPHA:83317
19Q13.11 Microdeletion Syndrome	Supernumerary nipple, Fine hair, Sparse or absent eyelashes, Nail dysplasia, Sparse hair, Sparse ...	ORPHA:217346
Joint Contractures, Osteochondromas, And B-Cell Lymphoma	Vertebral compression fracture, Generalized lymphadenopathy, Cervical spinal canal stenosis	OMIM:620232
Revesz Syndrome	Nail pits, Fine hair, Nail dystrophy, Sparse hair, Ridged fingernail	OMIM:268130
Legionnaires Disease	Pericarditis, Splenomegaly, Myocarditis, Endocarditis, Lymphadenopathy, Bone marrow hypocellulari...	ORPHA:549
Ectodermal Dysplasia-Blindness Syndrome	Sparse hair, Abnormal fingernail morphology, Fine hair	ORPHA:1806
Anaplastic Thyroid Carcinoma	Goiter, Nodular goiter, Lymphadenopathy	ORPHA:142
Mucopolysaccharidosis, Type Vi	Hepatomegaly, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyphoscoliosis, Ante...	OMIM:253200
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypospadias, Ventricular septal defect, Cardiomegaly, Short neck, Hypertrophic cardiomyopathy, Pl...	OMIM:616897
Trichorhinophalangeal Syndrome, Type I	Slow-growing hair, Thin nail, Concave nail, Leukonychia, Fine hair, Thin eyebrow, Sparse hair, Sp...	OMIM:190350
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Synophrys, Fine hair	OMIM:619428
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, Spina bifida occulta, Scoliosis, Hyperlordosis	ORPHA:2780
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Alopecia, Fine hair	ORPHA:228390
Metaphyseal Chondrodysplasia, Schmid Type	Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology	ORPHA:174
Lipodystrophy, Familial Partial, Type 6	Lumbar hyperlordosis	OMIM:615980
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Martsolf Syndrome 1	Thoracic scoliosis, Lumbar hyperlordosis, Hypogonadotropic hypogonadism, Cryptorchidism, Cardiomy...	OMIM:212720
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Myopathy, Myofibrillar, 7	Lumbar hyperlordosis, Thoracic kyphosis, Scoliosis, Spinal rigidity	OMIM:617114
X-Linked Dominant Chondrodysplasia Punctata	Sparse eyelashes, Abnormal hair pattern, Sparse eyebrow, Scarring alopecia of scalp, Coarse hair,...	ORPHA:35173
Multiple Endocrine Neoplasia, Type Iib	Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Parathyroid hyperplasia, Nodular goiter	OMIM:162300
Otospondylomegaepiphyseal Dysplasia	Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp...	ORPHA:1427
Mevalonic Aciduria	Normocytic hypoplastic anemia, Kyphoscoliosis, Fluctuating splenomegaly, Fluctuating hepatomegaly...	OMIM:610377
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type	Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies	OMIM:608728
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Lumbar hyperlordosis, Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, ...	ORPHA:2232
Trichothiodystrophy 3, Photosensitive	Tiger tail banding, Brittle hair, Trichorrhexis nodosa	OMIM:616395
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Hepatomegaly, Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thr...	ORPHA:79124
Congenital Muscular Dystrophy With Cerebellar Involvement	Cardiomyopathy, Lumbar hyperlordosis	ORPHA:370959
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Pseudoachondroplasia	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea...	OMIM:177170
Spinocerebellar Ataxia-Dysmorphism Syndrome	Coarse hair	ORPHA:1185
Multiple Endocrine Neoplasia Type 2	Cervical neoplasm, Kyphoscoliosis, Hyperlordosis, Thyroid C cell hyperplasia, Cervical lymphadeno...	ORPHA:653
Dysostosis, Stanescu Type	Hyperlordosis, Kyphosis, Scoliosis, Short neck	ORPHA:1798
Hypocomplementemic Urticarial Vasculitis	Hepatomegaly, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Lymphadenopathy	ORPHA:36412
Middle Ear Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100084
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Sparse hair, Synophrys, Low anterior hairline, Fine hair	ORPHA:391408
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Lymphadenopathy, Anemia, Coombs-positive hemolytic ane...	OMIM:304790
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hepatomegaly, Hemolytic anemia, Splenomegaly, Lymphadenopathy, Thrombocytopenia	ORPHA:169090
Gorlin-Chaudhry-Moss Syndrome	Coarse hair, Low anterior hairline, Generalized hirsutism	ORPHA:2095
Meige Disease	Lymph node hypoplasia, Absence of lymph node germinal center	ORPHA:90186
Achondroplasia	Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca...	ORPHA:15
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus	Hepatomegaly, Hyperlordosis, Hypoplasia of the odontoid process, Irregular vertebral endplates, P...	OMIM:226980
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Lumbar hyperlordosis, Ventricular septal defect, External genital hypoplasia, Short neck, Cryptor...	ORPHA:251028
Mixed Connective Tissue Disease	Hemolytic anemia, Hepatomegaly, Pericarditis, Splenomegaly, Mediastinal lymphadenopathy, Myocardi...	ORPHA:809
Kikuchi-Fujimoto Disease	Hepatomegaly, Generalized lymphadenopathy, Splenomegaly, Cervical lymphadenopathy, Thrombocytopen...	ORPHA:50918
Smith-Mccort Dysplasia 2	Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck	OMIM:615222
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p...	OMIM:600802
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Nail dystrophy, Nail dysplasia, Sparse hair, Chronic monilial nail infection	OMIM:158310
Symptomatic Form Of Hfe-Related Hemochromatosis	Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul...	ORPHA:465508
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Sparse eyebrow, Brittle hair	OMIM:618810
Poems Syndrome	Pericardial effusion, Lymphadenopathy, Hypogonadism, Thrombocytosis, Sclerotic vertebral endplate...	ORPHA:2905
Koolen-De Vries Syndrome Due To A Point Mutation	Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Sacral dimple, Hypospadias, Decreased response to growth hormone stimulation test, Testicular neo...	ORPHA:363958
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly	Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,...	OMIM:618019
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells, Lymphadenopathy	OMIM:617099
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Back pain, Lumbar hyperlordosis, Decreased response to growth hormone stimulation test, Lumbar ky...	OMIM:619234
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Medial flaring of the eyebrow, Sparse scalp hair, Thick eyebrow, Curly hair, Synophrys, Long eyel...	OMIM:619503
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233710
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617821
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Autoimmune hemolytic anemia, Pure red cell aplasia, Autoimmune thrombocytopenia, Sp...	ORPHA:436159
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly, Dysplastic sacrum, Severe platyspondyly, Short neck	OMIM:613320
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Hyperlordosis, Abnormal T cell subset distribution, B lymphocytopenia, Decreased proportion of CD...	ORPHA:221139
Intellectual Disability, Buenos-Aires Type	Abnormal fingernail morphology, Hyperconvex thumb nails, Fine hair	ORPHA:3079
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Generalized lymphadenopathy, Autoimmune hemolytic anemia, Chronic neutropenia, Auto...	OMIM:614700
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Eosinophilia, Lymphocytosis, Lymphadenopathy	ORPHA:139402
Pfeiffer Syndrome	Hyperlordosis, Short neck	ORPHA:710
Costello Syndrome	Deep-set nails, Abnormal fingernail morphology, Concave nail, Abnormal hair morphology, Hypoplast...	ORPHA:3071
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Stiff-Person Syndrome	Lumbar hyperlordosis, Anemia	OMIM:184850
Pelvis-Shoulder Dysplasia	Back pain, Lumbar hyperlordosis, Spina bifida occulta	OMIM:169550
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Lumbar hyperlordosis, Scoliosis	OMIM:601152
Proteasome-Associated Autoinflammatory Syndrome 3	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Galloway-Mowat Syndrome 9	Coarse hair	OMIM:619603
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Synophrys, Long eyelashes, Fine hair	OMIM:620250
Lymphatic Filariasis	Orchitis, Lymphadenitis, Abnormality of the lymphatic system, Epididymitis, Vaginal hydrocele, Hy...	ORPHA:2035
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:233690
Saethre-Chotzen Syndrome	Cryptorchidism, Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis	ORPHA:794
Trichorhinophalangeal Syndrome Type 1	Scoliosis, Hyperlordosis	ORPHA:77258
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Hepatomegaly, Abnormal dense granules, Splenomegaly, T...	OMIM:214500
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Cryptorchidism, Lumbar hyperlordosis	OMIM:602471
Familial Pancreatic Carcinoma	Back pain, Pancreatic adenocarcinoma, Lymphadenopathy, Hepatosplenomegaly, Ovarian carcinoma, Per...	ORPHA:1333
Acute Promyelocytic Leukemia	Pancytopenia, Thrombocytopenia, Leukocytosis, Lymphadenopathy, Leukopenia, Neutropenia, Anemia	ORPHA:520
Klatskin Tumor	Hepatomegaly, Lymphadenopathy	ORPHA:99978
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Absent eyebrow, Brittle hair, Absent nipple, Sparse eyelashes, Concave nail, Absent eyelashes, Sp...	OMIM:305100
Cutaneous Mastocytoma	Lymphadenopathy	ORPHA:79455
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hepatomegaly, Hyperlordosis, Precocious puberty, Hepatosplenomegaly, Cholelithiasis	OMIM:301066
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hepatomegaly, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Leukopenia, Hemophagocytosis, Anemia	OMIM:267700
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Brain abscess, Lumbar hyperlordosis, Kyphosis, Uterine leiomyoma, Platyspondyly	OMIM:616482
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Sparse eyelashes, Hyperconvex nail, Supernumerary nipple, Sparse eyebrow, Hyperconvex fingernails...	ORPHA:1071
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hepatomegaly, Pancytopenia, Splenomegaly, Thrombocytopenia, Lymphadenopathy, Hepatosplenomegaly, ...	OMIM:603553
Papa Syndrome	Lymphadenopathy	ORPHA:69126
Nephroblastoma	Lymphadenopathy	ORPHA:654
Cerebrofaciothoracic Dysplasia	Abnormal hair pattern, Synophrys, Low posterior hairline, Coarse hair, Thick eyebrow	ORPHA:1394
Familial Hemophagocytic Lymphohistiocytosis	Hepatomegaly, Splenomegaly, Lymphadenopathy, Anemia, Hemophagocytosis, Neutropenia, Thrombocytopenia	ORPHA:540
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Hypogonadism, Hyperlordosis	ORPHA:3253
Orofaciodigital Syndrome Type 3	Abnormality of hair texture	ORPHA:2752
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Neutropenia, Biconcave ve...	OMIM:271510
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Pericarditis, Orchitis, Splenomegaly, Abnormal sacroiliac joint morphology, Leukocytosis, Lymphad...	ORPHA:32960
Cantú Syndrome	Abnormal heart valve morphology, Ovoid vertebral bodies, Cardiomegaly, Short neck, Cuboid-shaped ...	ORPHA:1517
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Coronal cleft vertebrae, Beaking of vertebral bodies, Lumbar hyperlordosis, Platyspondyly	OMIM:215150
Pure Mitochondrial Myopathy	Lumbar hyperlordosis, Scoliosis	ORPHA:254854
Kaposi Sarcoma	Abnormality of the spleen, Generalized lymphadenopathy	ORPHA:33276
Immunodeficiency With Hyper-Igm, Type 1	Hemolytic anemia, Hepatomegaly, Absence of lymph node germinal center, Splenomegaly, Enlarged ton...	OMIM:308230
Autoimmune Lymphoproliferative Syndrome	Reticulocytosis, Autoimmune hemolytic anemia, Hepatomegaly, Chronic noninfectious lymphadenopathy...	ORPHA:3261
Squamous Cell Carcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424019
Langer Mesomelic Dysplasia	Lumbar hyperlordosis	OMIM:249700
Dyskeratosis Congenita, Autosomal Dominant 3	Premature graying of hair, Alopecia, Nail dysplasia, Fine hair	OMIM:613990
Q Fever	Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, ...	ORPHA:781
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg...	OMIM:618278
Pediatric Systemic Lupus Erythematosus	Pericardial effusion, Lymphadenopathy, Leukopenia, Microangiopathic hemolytic anemia, Lymphopenia...	ORPHA:93552
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Fine hair	ORPHA:363686
Schwartz-Jampel Syndrome	Abnormally ossified vertebrae, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Abnormally s...	ORPHA:800
Dyggve-Melchior-Clausen Disease	Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th...	OMIM:223800
Immunodeficiency 55	Absent natural killer cells, Lymphopenia, Neutropenia, Lymphadenopathy	OMIM:617827
Weill-Marchesani Syndrome 1	Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio...	OMIM:277600
Acromesomelic Dysplasia 1	Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu...	OMIM:602875
Pelvis-Shoulder Dysplasia	Ambiguous genitalia, Lumbar hyperlordosis, Prominent protruding coccyx, Abnormal form of the vert...	ORPHA:2839
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:612813
Fucosidosis	Hepatomegaly, Kyphosis, Anterior beaking of lumbar vertebrae, Cardiomegaly	ORPHA:349
Sandhoff Disease	Hepatomegaly, Cardiomegaly, Hepatosplenomegaly	OMIM:268800
Acute Interstitial Pneumonia	Pericardial effusion, Reduced hematocrit, Lymphadenopathy	ORPHA:79126
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Sparse hair, Nail dysplasia, Aplasia/Hypoplasia of the eyebrow, Fine hair	OMIM:614091
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture	ORPHA:88618
Opitz-Kaveggia Syndrome	Sacral dimple, Lumbar hyperlordosis, Hypospadias, Short neck, Cryptorchidism, Abnormal heart morp...	OMIM:305450
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Sparse eyebrow, Curly hair, Broad lateral eyebrow	ORPHA:500150
Ogden Syndrome	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:276432
Distal Deletion 10Q	Atrial septal defect, Lumbar hyperlordosis, Spina bifida occulta	ORPHA:96148
Frontorhiny	Hypopituitarism, Lumbar hyperlordosis, Scoliosis	ORPHA:391474
Hyper-Igd Syndrome	Neutrophilia, Splenomegaly, Lymphadenitis, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly	OMIM:260920
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Multiple Sulfatase Deficiency	Coarse hair, Thick eyebrow	ORPHA:585
Tangier Disease	Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Hepatosplenomegaly, Anemia, Lef...	ORPHA:31150
Acrofacial Dysostosis, Catania Type	Coarse hair, Abnormal hair pattern	ORPHA:1786
T-Cell Immunodeficiency With Thymic Aplasia	Decreased proportion of naive T cells, Aplasia of the thymus, Lymphadenopathy, T lymphocytopenia,...	ORPHA:83471
Intellectual Developmental Disorder, Autosomal Dominant 29	Cryptorchidism, Lumbar hyperlordosis, Hyperlordosis	OMIM:616078
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Curly hair, Hypoplastic nipples, Hypertrichosis	ORPHA:480880
Alexander Disease	Hyperlordosis, Precocious puberty, Kyphosis, Short neck, Scoliosis	ORPHA:58
Brucellosis	Hepatomegaly, Pericarditis, Liver abscess, Lung abscess, Hypersplenism, Splenomegaly, Orchitis, E...	ORPHA:1304
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Spondyloepimetaphyseal Dysplasia, Aggrecan Type	Lumbar hyperlordosis, Short neck	ORPHA:171866
Argininosuccinic Aciduria	Dry hair, Brittle hair, Trichorrhexis nodosa	OMIM:207900
Stiff Person Spectrum Disorder	Lumbar hyperlordosis	ORPHA:3198
Acute Generalized Exanthematous Pustulosis	Neutrophilia, Eosinophilia, Leukocytosis, Lymphadenopathy, Neutropenia	ORPHA:293173
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:608013
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Fine hair	ORPHA:935
Macrocephaly/Autism Syndrome	Coarse hair	OMIM:605309
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Thick eyebrow, Fine hair	OMIM:614800
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Thymus hyperplasia	OMIM:619036
Mandibuloacral Dysplasia With Type B Lipodystrophy	Sparse hair, Alopecia, Brittle hair	OMIM:608612
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture	ORPHA:96169
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Hyperlordosis, Cryptorchidism, Pineal cyst...	OMIM:615873
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p...	ORPHA:3427
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Brittle hair	OMIM:236200
Bethlem Myopathy	Lumbar hyperlordosis, Scoliosis, Spinal rigidity	ORPHA:610
Frontonasal Dysplasia 2	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Fine hair, Sparse hair	OMIM:613451
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Ventricular septal defect, Kyphos...	OMIM:143095
Mucopolysaccharidosis-Plus Syndrome	Synophrys, Low anterior hairline, Low posterior hairline, Coarse hair, Long eyelashes, Hirsutism	OMIM:617303
Spondylocarpotarsal Synostosis Syndrome	Vertebral fusion, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the odontoid process,...	OMIM:272460
Sting-Associated Vasculopathy, Infantile-Onset	Follicular hyperplasia, Paratracheal lymphadenopathy, Leukopenia, Thrombocytosis, Lymphopenia, An...	OMIM:615934
H Syndrome	Microcytic anemia, Lymphadenopathy, Hepatosplenomegaly, Azoospermia, Hypogonadism, Micropenis, De...	ORPHA:168569
Neuroendocrine Tumor Of The Colon	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100080
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Hepatomegaly, Pancytopenia, Splenomegaly, Leukocytosis, Dilated cardiomyopathy, Lymphadenopathy, ...	OMIM:615688
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Cardiomegaly, Hyperlordosis, Scoliosis, Left ventricular hypertrophy, Hypertrophic ...	ORPHA:365
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Aplasia/Hypoplasia of the eyebrow, Aplastic/hypoplastic toenail, Supernumerary nipple, Fine hair	ORPHA:1812
Pancreatoblastoma	Pancreatic calcification, Abnormal lymph node morphology	ORPHA:677
Cutaneous Neuroendocrine Carcinoma	Lymphoid leukemia, Chronic noninfectious lymphadenopathy	ORPHA:79140
Hyperimmunoglobulinemia D With Periodic Fever	Hepatomegaly, Lymphadenopathy	ORPHA:343
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	ORPHA:50814
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Hepatomegaly, Mediastinal lymphadenopathy, Leukocytosis, Mitral valve prolapse, Hilar lymph node ...	OMIM:620233
Melkersson-Rosenthal Syndrome	Lymphadenopathy	ORPHA:2483
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Cardiomyopathy, Scoliosis, Hyperlordosis	ORPHA:258
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Granulomatous Disease, Chronic, X-Linked	Hepatomegaly, Liver abscess, Splenomegaly, Lymphadenitis, Lymphadenopathy, Impaired oxidative bur...	OMIM:306400
Acromesomelic Dysplasia 4	Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte...	OMIM:619636
Hallermann-Streiff Syndrome	Cryptorchidism, Scoliosis, Hyperlordosis	OMIM:234100
Achondroplasia	Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis...	OMIM:100800
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Cardiomegaly, Hypoplasia of t...	OMIM:252500
Cardiofaciocutaneous Syndrome	Brittle hair, Slow-growing hair, Abnormal eyelash morphology, Low posterior hairline, Fine hair, ...	ORPHA:1340
Cranioectodermal Dysplasia 3	Sparse hair, Broad nail, Short nail, Fine hair	OMIM:614099
Distal 22Q11.2 Microdeletion Syndrome	Atrial septal defect, Truncus arteriosus, Ventricular septal defect, Hyperlordosis	ORPHA:261330
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Sparse hair, Sparse body...	ORPHA:2108
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Cervical lymphadenopathy, Decreased mean platelet volume, Lymphadenopathy, Lymphocytosis, Thrombo...	OMIM:617718
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Kyphoscoliosis, Cardiom...	OMIM:300967
Diamond-Blackfan Anemia 21	Synophrys, Coarse hair, Horizontal eyebrow, Widow's peak	OMIM:620072
Congenital Fiber-Type Disproportion Myopathy	Kyphoscoliosis, Hyperlordosis, Cor pulmonale, Abnormal heart morphology, Scoliosis	ORPHA:2020
Cutis Laxa, Autosomal Recessive, Type Iiib	Sparse hair, Fine hair	OMIM:614438
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Ventricular septal defect, Kyphoscoliosis, Hyperlordosis, Abnormal heart morphology, Mitral valve...	ORPHA:363700
Common Variable Immunodeficiency	Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Lymphadenopathy, Lymphopenia	ORPHA:1572
Pulmonary Capillary Hemangiomatosis	Pericardial effusion, Mediastinal lymphadenopathy, Lymphadenopathy	ORPHA:199241
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Lumbar hyperlordosis, Hypospadias, Ventricular septal defect, Cryptorchidism, Scoliosis, Annular ...	OMIM:616975
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Hepatomegaly, Scoliosis, Hyperlordosis	OMIM:615356
Bronchial Neuroendocrine Tumor	Hepatomegaly, Chronic noninfectious lymphadenopathy, Elevated circulating growth hormone concentr...	ORPHA:97287
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dry hair, Low anterior hairline	OMIM:618569
Trisomy 20P	Thick hair, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, Coarse hair, Th...	ORPHA:261318
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Abnormal thymus morphology, Lumbar hemivertebrae, Cardiomegaly	ORPHA:2463
Selective Igm Deficiency	Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Lymphadenitis, Decreas...	ORPHA:331235
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Pancytopenia, Pericardial effusion, Splenomegaly, Thrombocytopenia...	ORPHA:167
Desbuquois Dysplasia 2	Platyspondyly, Lumbar hyperlordosis, Short neck	OMIM:615777
Waldenström Macroglobulinemia	Normocytic anemia, Hepatomegaly, Abnormality of neutrophils, Splenomegaly, Lymphadenopathy, Leukemia	ORPHA:33226
Periodic Fever, Familial, Autosomal Dominant	Hepatomegaly, Cervical lymphadenopathy	OMIM:142680
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cryptorchidism, Scoliosis, Cardiomegaly	OMIM:618143
Oculodentodigital Dysplasia, Autosomal Recessive	Sparse hair, Sparse eyelashes, Fine hair	OMIM:257850
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Igg4-Related Submandibular Gland Disease	Eosinophilia, Prostatitis, Enlarged lacrimal glands, Abnormal pancreas morphology, Lymphadenopath...	ORPHA:449432
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia, Sparse hair	OMIM:612199
Split Cord Malformation	Back pain, Abnormal thoracic spine morphology, Low back pain, Hypospadias, Kyphoscoliosis, Hyperl...	ORPHA:573278
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture	ORPHA:79351
Mucopolysaccharidosis Type 3	Hepatomegaly, Adenoiditis, Cardiomegaly, Splenomegaly, Recurrent tonsillitis, Abnormal form of th...	ORPHA:581
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Short neck, Mitral valve prolapse, Platyspondyly, Scoliosis,...	OMIM:245600
Neuroendocrine Tumor Of The Rectum	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hepatomegaly, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morphology	ORPHA:100082
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Coarse hair, Nail dysplasia	OMIM:612394
Glycogen Storage Disease Ii	Hepatomegaly, Splenomegaly, Cardiomegaly	OMIM:232300
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Cardiomegaly, Abnormal form of the vertebral bodies, ...	ORPHA:904
Spondylometaphyseal Dysplasia, Algerian Type	Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis	OMIM:184253
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Brittle hair	OMIM:619184
Weill-Marchesani Syndrome 2	Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio...	OMIM:608328
Immunodeficiency 31C	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Autoimmune hemolytic an...	OMIM:614162
Genitopatellar Syndrome	Sparse scalp hair, Fine hair	ORPHA:85201
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak	ORPHA:1974
Koolen-De Vries Syndrome	Fair hair, Abnormality of hair texture	OMIM:610443
Multiple Myeloma	Splenomegaly, Vertebral compression fracture, Anemia, Lymphadenopathy	ORPHA:29073
Coccidioidomycosis	Abnormal sperm morphology, Pericarditis, Eosinophilia, Abscess, Abnormality of the spleen, Medias...	ORPHA:228123
Carney Triad	Mediastinal lymphadenopathy, Pheochromocytoma, Anemia, Lymphadenopathy	ORPHA:139411
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Sparse hair, Coarse hair, Thick hair	ORPHA:357074
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Sparse hair, Brittle hair, Fine hair	OMIM:618891
Mucopolysaccharidosis, Type Iiid	Synophrys, Hirsutism, Coarse hair, Facial hirsutism, Thick eyebrow	OMIM:252940
Malt Lymphoma	Mediastinal lymphadenopathy, Anemia, Lymphadenopathy	ORPHA:52417
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Trichothiodystrophy	Ridged nail, Sparse scalp hair, Split nail, Brittle hair, Concave nail, Tiger tail banding, Alope...	ORPHA:33364
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Spondylolysis, Scoliosis, Spondylolisthesis	ORPHA:2614
Graft Versus Host Disease	Hemophagocytosis, Lymphadenopathy, Hepatosplenomegaly	ORPHA:39812
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay	Brittle hair	OMIM:616084
2P15P16.1 Microdeletion Syndrome	Sparse eyebrow, Long eyelashes, Supernumerary nipple, Fine hair	ORPHA:261349
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Atrial septal defect, Lumbar hyperlordosis, Scoliosis	ORPHA:522077
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Accessory spleen, Hepatomegaly, Ventricular septal defect, Splenomegaly, Lymphadenopathy, Polyspl...	OMIM:619418
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
Cerebellofaciodental Syndrome	Sparse eyebrow, Fine hair	OMIM:616202
Nail-Patella Syndrome	Back pain, Lumbar hyperlordosis, Scoliosis	OMIM:161200
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Abnormality of the cervical spine, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:85408
Oculodentodigital Dysplasia	Dry hair, Slow-growing hair, Fine hair, Sparse hair, Fragile nails	OMIM:164200
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Kyphosis, Scoliosis, Hyperlordosis	OMIM:617011
Farber Disease	Thrombocytopenia, Lymphadenopathy, Anemia, Hepatosplenomegaly	ORPHA:333
Craniolenticulosutural Dysplasia	Sparse hair, Coarse hair, Brittle hair	OMIM:607812
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia in presence o...	ORPHA:37042
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Mucopolysaccharidosis, Type Vii	Coarse hair, Thick eyebrow, Hirsutism	OMIM:253220
Syndromic Diarrhea	Hypopigmentation of hair, Brittle hair, Uncombable hair, Woolly hair, Trichorrhexis nodosa	ORPHA:84064
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Aplasia/Hypoplasia of the eyebrow, Fine hair	ORPHA:2637
Weaver Syndrome	Sparse hair, Thin nail, Deep-set nails, Fine hair	OMIM:277590
Hennekam Syndrome	Pericardial effusion, Splenomegaly, Pulmonary lymphangiectasia, Lymphadenopathy, Lymphangioma, Ly...	ORPHA:2136
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Thick eyebrow	ORPHA:1896
Ablepharon Macrostomia Syndrome	Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Fine hair, Sparse hair, Breast hypoplasia	ORPHA:920
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Aicardi-Goutières Syndrome	Neonatal alloimmune thrombocytopenia, Cardiomegaly, Chronic lymphatic leukemia, Hepatosplenomegal...	ORPHA:51
Neurodegeneration And Seizures Due To Copper Transport Defect	Glandular hypospadias, Cardiomegaly	OMIM:620306
Lymphangioleiomyomatosis	Abnormality of the lymphatic system, Chylopericardium, Lymphadenopathy, Abnormal morphology of fe...	ORPHA:538
Neuroendocrine Tumor Of Stomach	Iron deficiency anemia, Chronic noninfectious lymphadenopathy, Abnormal pulmonary valve cusp morp...	ORPHA:100075
Lateral Meningocele Syndrome	Coarse hair	OMIM:130720
Nicolaides-Baraitser Syndrome	Absent eyebrow, Dry hair, Sparse scalp hair, Low anterior hairline, Low posterior hairline, Long ...	OMIM:601358
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness	Lumbar hyperlordosis, Scoliosis	OMIM:250420
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Short neck, Cardiomega...	OMIM:300855
Idiopathic Hypereosinophilic Syndrome	Generalized lymphadenopathy, Neutrophilia, Eosinophilia, Splenomegaly, Cervical lymphadenopathy, ...	ORPHA:3260
Woodhouse-Sakati Syndrome	Sparse hair, Alopecia, Fine hair	OMIM:241080
Proteus Syndrome	Thymus hyperplasia, Testicular neoplasm, Neoplasm of the thymus, Kyphosis, Splenomegaly, Long pen...	ORPHA:744
Adrenomyeloneuropathy	Frontal balding, Fine hair	ORPHA:139399
Cerebellar-Facial-Dental Syndrome	Sparse hair, Sparse eyebrow, Fine hair	ORPHA:444072
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial...	ORPHA:96191
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Ileal Neuroendocrine Tumor	Iron deficiency anemia, Tricuspid stenosis, Pulmonic stenosis, Lymphadenopathy	ORPHA:100078
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Familial Mediterranean Fever	Orchitis, Splenomegaly, Pericarditis, Lymphadenopathy	ORPHA:342
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Onycholysis, Nail dystrophy	OMIM:614748
Scalp-Ear-Nipple Syndrome	Sparse axillary hair, Sparse pubic hair, Fine hair, Patchy alopecia, Breast aplasia, Nail dysplas...	OMIM:181270
Abetalipoproteinemia	Reticulocytosis, Hepatomegaly, Kyphoscoliosis, Cardiomegaly, Acanthocytosis, Anemia	ORPHA:14
Sponastrime Dysplasia	Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Precocious puberty, Hyperconvex vertebral body...	ORPHA:93357
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla...	OMIM:130650
Kawasaki Disease	Pericarditis, Abnormal heart valve morphology, Myocarditis, Leukocytosis, Cervical lymphadenopath...	ORPHA:2331
Dubowitz Syndrome	Sparse scalp hair, Abnormal fingernail morphology, Hypoplastic toenails, Low anterior hairline, F...	ORPHA:235
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Sparse hair, Fine hair, Highly arched eyebrow, Low posterior hairline	OMIM:613563
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:308552
Immunodeficiency 82 With Systemic Inflammation	Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, T l...	OMIM:619381
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Kyphosis, Micropenis, Lumbar hyperlordosis, Kyphoscoliosis	ORPHA:457359
Proteasome-Associated Autoinflammatory Syndrome 1	Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Thrombocytopenia, Epididymitis, Lymp...	OMIM:256040
Acrocapitofemoral Dysplasia	Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis	OMIM:607778
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Marburg Hemorrhagic Fever	Back pain, Reticulocytosis, Lymphopenia, Pericarditis, Orchitis, Neutrophilia in presence of infe...	ORPHA:99826
Autosomal Recessive Malignant Osteopetrosis	Hepatomegaly, Abnormal pulmonary valve morphology, Splenomegaly, Lymphadenopathy, Anemia	ORPHA:667
Sarcoidosis	Hemolytic anemia, Hepatomegaly, Eosinophilia, Abnormal reproductive system morphology, Thrombocyt...	ORPHA:797
Liver Disease, Severe Congenital	Hepatomegaly, Hypospadias, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Bili...	OMIM:619991
Neuroendocrine Neoplasm Of Appendix	Hepatomegaly, Tricuspid stenosis, Chronic noninfectious lymphadenopathy, Ovarian neoplasm, Adreno...	ORPHA:100079
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Crimean-Congo Hemorrhagic Fever	Hepatomegaly, Pancytopenia, Neutrophilia, Orchitis, Splenomegaly, Leukocytosis, Epididymitis, Thr...	ORPHA:99827
Branchiooculofacial Syndrome	Hypospadias, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Cryptorchidism, Ectopic t...	OMIM:113620
Behçet Disease	Pericarditis, Orchitis, Splenomegaly, Endocarditis, Lymphadenopathy, Abnormal myocardium morphology	ORPHA:117
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega...	ORPHA:75565
Sarcoidosis, Susceptibility To, 1	Hepatomegaly, Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Splenomegaly, Medi...	OMIM:181000
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Abnormal pancreas morphology, Pseudohyp...	ORPHA:116
Turnpenny-Fry Syndrome	Thoracic kyphoscoliosis, Lumbar hyperlordosis, Mitral valve prolapse, Tricuspid valve prolapse, A...	OMIM:618371
Mucolipidosis Type Ii	Dry hair, White hair, Fine hair	ORPHA:576
Marshall-Smith Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow, Hypertrichosis	OMIM:602535
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Synophrys, Hypoplastic sweat glands, Thick eyebrow, Abnormality of hair texture	ORPHA:73223
Shprintzen Omphalocele Syndrome	Kyphosis, Lumbar hyperlordosis, Scoliosis	OMIM:182210
Orofaciodigital Syndrome Type 1	Sparse hair, Alopecia, Coarse hair, Brittle hair	ORPHA:2750
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Generalized lymphadenopathy, Hepatomegaly, Pericardial effusion, ...	OMIM:615846
Congenital Tracheomalacia	Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear...	ORPHA:95430
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Scoliosis, Cardiomegaly	ORPHA:91387
Noonan Syndrome	Abnormal hair quantity, Coarse hair, Low posterior hairline	ORPHA:648
Lysinuric Protein Intolerance	Sparse hair, Fine hair	OMIM:222700
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Lymphadenopathy, Enlargement of parotid gland, Nodular goiter, Abnormal...	ORPHA:79078
Cranioectodermal Dysplasia 1	Slow-growing hair, Thin nail, Short nail, Fine hair, Sparse hair	OMIM:218330
Igg4-Related Ophthalmic Disease	Eosinophilia, Orchitis, Abnormality of the anterior pituitary, Enlarged lacrimal glands, Lymphade...	ORPHA:449563
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Bohring-Opitz Syndrome	Cholelithiasis, Annular pancreas, Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Menkes Disease	Sparse hair, Woolly hair, Hypopigmentation of hair	ORPHA:565
Malakoplakia	Orchitis, Prostate neoplasm, Follicular hyperplasia	ORPHA:556
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Polycystic ovaries	ORPHA:137675
Hajdu-Cheney Syndrome	Abnormal fingernail morphology, Synophrys, Low anterior hairline, Coarse hair, Generalized hirsut...	ORPHA:955
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell a...	ORPHA:99889
Orofaciodigital Syndrome I	Sparse hair, Alopecia, Dry hair	OMIM:311200
Iniencephaly	Absent vertebra, Hyperlordosis	ORPHA:63259
Cherubism	Submandibular lymph node enlargement	OMIM:118400
Primary Sjögren Syndrome	Normocytic anemia, Lymphopenia, Thrombocytopenia, Lymphadenopathy, Leukopenia, Normochromic anemi...	ORPHA:289390
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Highly arched eyebrow, Fine hair, Hypoplastic nipples, Sparse hair, Sparse lateral eyebrow	OMIM:280000
Chime Syndrome	Sparse hair, Fine hair	ORPHA:3474
Igg4-Related Kidney Disease	Pericarditis, Eosinophilia, Lymphadenitis, Abnormality of the anterior pituitary, Lymphadenopathy...	ORPHA:449395
Fontaine Progeroid Syndrome	Sparse scalp hair, Absent nipple, Synophrys, Low anterior hairline, Low posterior hairline, Coars...	OMIM:612289
Occipital Horn Syndrome	Coarse hair, Pili torti	OMIM:304150
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia, Lymphadenopathy	ORPHA:536
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Cockayne Syndrome B	Sparse hair, Dry hair, Abnormal hair morphology	OMIM:133540
Melnick-Needles Syndrome	Coarse hair, Frontal hirsutism	OMIM:309350
Blau Syndrome	Pericarditis, Splenomegaly, Lymphadenopathy, Abnormal salivary gland morphology, Anemia	ORPHA:90340
Yunis-Varon Syndrome	Hypospadias, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C...	ORPHA:3472
Adenocarcinoma Of The Anal Canal	Lymphadenopathy	ORPHA:424016
Gallbladder Neuroendocrine Tumor	Chronic noninfectious lymphadenopathy	ORPHA:100086
Distal Deletion 12Q	Small nail, Fine hair	ORPHA:96149
Myhre Syndrome	Sparse hair, Thick eyebrow, Fine hair	OMIM:139210
Cockayne Syndrome Type 3	Premature graying of hair, Dry hair	ORPHA:90324
Cockayne Syndrome A	Sparse hair, Dry hair	OMIM:216400
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Focal Dermal Hypoplasia	Ridged nail, Brittle hair, Supernumerary nipple, Patchy alopecia, Nail dystrophy, Hypoplastic nip...	OMIM:305600
Coffin-Siris Syndrome 1	Sparse scalp hair, Dry hair, Hypoplastic fifth fingernail, Lumbosacral hirsutism, Long eyelashes,...	OMIM:135900
Occipital Horn Syndrome	Coarse hair, Thick hair	ORPHA:198
Renpenning Syndrome 1	Sparse hair, Brittle hair, Sparse lateral eyebrow	OMIM:309500
Leptospirosis	Hepatomegaly, Pericarditis, Thrombocytopenia, Lymphadenopathy	ORPHA:509
Spondyloepimetaphyseal Dysplasia, X-Linked	Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat...	OMIM:300106
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Brittle hair	OMIM:124000
Coffin-Lowry Syndrome	Hyperconvex fingernails, Coarse hair, Thick eyebrow, Highly arched eyebrow	OMIM:303600
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Fine hair	ORPHA:534
Neuroocular Syndrome	Brittle hair, Highly arched eyebrow, Synophrys, Long eyelashes, Small nail, Distichiasis, Thick e...	OMIM:619539
Chikungunya	Cervical lymphadenopathy, Lymphadenopathy	ORPHA:324625
Cockayne Syndrome	Dry hair, Fine hair	ORPHA:191
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Fine hair, Sparse hair	OMIM:210710
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
African Trypanosomiasis	Hepatomegaly, Pericarditis, Splenomegaly, Myocarditis, Hepatosplenomegaly, Abnormal prolactin lev...	ORPHA:3385
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Coarse hair	ORPHA:83617
Noonan Syndrome 1	Woolly hair, Low posterior hairline	OMIM:163950
Microphthalmia, Syndromic 1	Lumbar hyperlordosis, Hypospadias, Bicuspid aortic valve, Kyphoscoliosis, Cryptorchidism, Scoliosis	OMIM:309800
Generalized Arterial Calcification Of Infancy	Ventricular hypertrophy, Cardiomegaly, Pericardial effusion, Myocardial calcification, Fused cerv...	ORPHA:51608
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Hyperconvex nail, Fine hair, High anterior hairline, Fragile nails	OMIM:613406
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Scoliosis, Subvalvular aort...	OMIM:182250
Vascular Ehlers-Danlos Syndrome	Abnormal eyelash morphology, Alopecia, Aplasia/Hypoplasia of the eyebrow, Abnormality of hair tex...	ORPHA:286
Alström Syndrome	Frontal balding, Hirsutism, Fine hair	ORPHA:64

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 Krt27

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 Krt27.

No publications found that use IMPC mice or data for Krt27.

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MGI Allele	Allele Type	Produced
Krt27^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Krt27^{em1(IMPC)Ccpcz}	Exon Deletion	Mice, Tissue

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: Krt27 MGI:1339999

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

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X-ray

X-ray

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X-ray

Human diseases caused by Krt27 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data