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Gene: Prop1 MGI:109330

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
paired like homeodomain factor 1
Synonyms:
Prop-1,  prophet of Pit1,  prophet of Pit-1

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Prop1 mutations

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

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

The table below shows human diseases associated to Prop1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494

The table below shows human diseases predicted to be associated to Prop1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Lactate Dehydrogenase B Deficiency
Reduced lactate dehydrogenase B level OMIM:614128
Hydroxyacyl Glutathione Hydrolase Deficiency
Glyoxalase deficiency OMIM:614033
Deoxyribose-5-Phosphate Aldolase Deficiency
Abnormal circulating enzyme concentration or activity OMIM:125460
Pituitary Adenoma 5, Multiple Types
Pituitary adenoma OMIM:617540
Alcohol Sensitivity, Acute
Reduced acetaldehyde dehydrogenase level OMIM:610251
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Delayed Puberty, Self-Limited
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Decreased circula... OMIM:619613
Hypogonadotropic Hypogonadism 22 With Or Without Anosmia
Reduced response to gonadotropin-releasing hormone stimulation test, Decreased serum testosterone... OMIM:616030
Hypogonadotropic Hypogonadism 8 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Decreased circulating luteiniz... OMIM:614837
Hypogonadotropic Hypogonadism 13 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating luteinizing hormone level, Hypoplasia of the... OMIM:614842
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Spermatogenic Failure 15
Male infertility, Non-obstructive azoospermia, Abnormal circulating testosterone concentration, S... OMIM:616950
Hypogonadotropic Hypogonadism 27 Without Anosmia
Decreased circulating follicle stimulating hormone concentration, Reduced response to gonadotropi... OMIM:619755
Acatalasemia
Reduced catalase level OMIM:614097
Spermatogenic Failure 14
Male infertility, Abnormal prolactin level, Azoospermia, Abnormal circulating testosterone concen... OMIM:615842
Hypogonadotropic Hypogonadism 16 With Or Without Anosmia
Decreased serum testosterone concentration, Cryptorchidism, Primary amenorrhea, Decreased circula... OMIM:614897
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... OMIM:620103
Bdv Syndrome
Decreased thyroid-stimulating hormone level, Decreased serum testosterone concentration, Hypogona... OMIM:619326
Hypogonadotropic Hypogonadism 10 With Or Without Anosmia
Hypogonadotropic hypogonadism, Primary amenorrhea, Decreased circulating luteinizing hormone leve... OMIM:614839
Spermatogenic Failure 2
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... OMIM:108420
Polyendocrine-Polyneuropathy Syndrome
Hypoinsulinemia, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decreased circulat... ORPHA:453533
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Cryptorchi... OMIM:308750
Hyperprolactinemia
Female infertility, Menorrhagia, Oligomenorrhea, Increased circulating prolactin concentration OMIM:615555
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Decreased circulating ... OMIM:228300
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin... OMIM:620303
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Pituitary Hormone Deficiency, Combined, 6
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased circulating A... OMIM:613986
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:308700
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Isolated Growth Hormone Deficiency, Type Ii
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te... OMIM:173100
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Decreased response to growth hormone stimulation test, Crackles, Elevated c... OMIM:610978
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Elevated circulating luteinizing hormone level, Fe... OMIM:612310
Pituitary Hormone Deficiency, Combined, 3
Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati... OMIM:221750
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Adrenal Hypoplasia, Congenital, With Absent Pituitary Luteinizing Hormone
Congenital adrenal hypoplasia, Cryptorchidism, Micropenis, Decreased circulating luteinizing horm... OMIM:202150
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test OMIM:615925
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Persistent Mullerian Duct Syndrome, Types I And Ii
Bilateral cryptorchidism, Decreased cirrculating antimullerian hormone circulation, Male infertility OMIM:261550
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Pituicytoma
Decreased serum testosterone concentration, Decreased female libido, Hypogonadotropic hypogonadis... ORPHA:251623
Hypothyroidism, Central, With Testicular Enlargement
Reduced TSH response to thyrotrophin-releasing hormone stimulation test, Inappropriately normal t... OMIM:300888
Cerebellar Dysfunction, Impaired Intellectual Development, And Hypogonadotropic Hypogonadism
Hypogonadotropic hypogonadism, Cryptorchidism, Decreased circulating luteinizing hormone level, D... OMIM:619761
Female Infertility Due To Oocyte Meiotic Arrest
Female infertility, Polycystic ovaries, Abnormal spermatogenesis, Oocyte arrest at metaphase I, A... ORPHA:488191
Isolated Growth Hormone Deficiency, Type Ib
Micropenis, Reduced circulating growth hormone concentration, Decreased response to growth hormon... OMIM:612781
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia OMIM:618160
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Abnormality of female external genitalia, Increased circulating gonadotropin level,... ORPHA:168563
Septooptic Dysplasia
Diabetes insipidus, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:182230
Isochromosomy Yp
Male infertility, Azoospermia, Primary gonadal insufficiency, Ambiguous genitalia, Decreased test... ORPHA:98797
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Pri... OMIM:614129
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Cryptorchidism, Primar... OMIM:614841
Spermatogenic Failure 57
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testicular size, Male i... OMIM:619528
Spermatogenic Failure 50
Decreased testicular size, Azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619145
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Premature Ovarian Failure 2B
Premature ovarian insufficiency, Primary amenorrhea, Female infertility, Delayed puberty OMIM:300604
Spermatogenic Failure 32
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:618115
Spermatogenic Failure 71
Non-obstructive azoospermia, Sertoli cell-only phenotype, Male infertility OMIM:619831
Spermatogenic Failure 75
Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone level, Male infert... OMIM:619949
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Hypogonadotropic Hypogonadism 25 With Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Decreased serum testosterone concentratio... OMIM:618841
Culler-Jones Syndrome
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Hypogonad... OMIM:615849
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
Intellectual Developmental Disorder, X-Linked, With Panhypopituitarism
Panhypopituitarism, Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:300123
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Maternal diabetes, Atelectasis... ORPHA:70588
Hepatic Adenomas, Familial
Maturity-onset diabetes of the young, Polycystic ovaries OMIM:142330
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Ring Chromosome Y Syndrome
Bifid scrotum, Male infertility, Ambiguous genitalia, Streak ovary, Hypospadias, Unilateral crypt... ORPHA:261529
Obesity Due To Congenital Leptin Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:66628
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Panhypopituitarism, X-Linked
Panhypopituitarism OMIM:312000
46,Xx Testicular Difference Of Sex Development
Ambiguous genitalia, Male hypogonadism, Decreased testicular size, Polycystic ovaries ORPHA:393
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Primary amenorrhea, ... OMIM:273250
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Reduced circulating prolactin concentration OMIM:264120
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Recurrent upper respiratory tract infectio... OMIM:616784
Obesity Due To Leptin Receptor Gene Deficiency
Hypergonadotropic hypogonadism, Decreased serum leptin, Insulin-resistant diabetes mellitus, Abse... ORPHA:179494
Non-Acquired Isolated Growth Hormone Deficiency
Anterior hypopituitarism ORPHA:631
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Secondary amenorrhea, ... OMIM:615300
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Infe... OMIM:615872
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... ORPHA:67045
Gonadoblastoma
Female external genitalia in individual with 46,XY karyotype, Gonadal calcification, Increased se... ORPHA:206484
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:225250
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Pituitary Dwarfism With Large Sella Turcica
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:262710
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Prostate cancer, Ovarian neoplasm OMIM:616534
Hypothyroidism, Congenital, Nongoitrous, 7
Decreased circulating T4 concentration, Reduced TSH response to thyrotrophin-releasing hormone st... OMIM:618573
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98754
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Abnormality of the ovary, Hypogonadism, Decreased testicular size ORPHA:1875
46,Xx Gonadal Dysgenesis
Streak ovary, Premature ovarian insufficiency, Increased circulating gonadotropin level, Decrease... ORPHA:243
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia
Decreased testicular size, Cryptorchidism, Micropenis, Small pituitary gland OMIM:614880
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Small pituitary gland, Delayed puberty, Micropenis OMIM:612702
Isochromosomy Yq
Decreased testicular size, Male infertility, Gonadal tissue inappropriate for external genitalia ... ORPHA:98798
Polyendocrine-Polyneuropathy Syndrome
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th... OMIM:616113
Adenohypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95512
Panhypophysitis
Decreased circulating cortisol level, Decreased female libido, Reduced circulating prolactin conc... ORPHA:95513
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:98793
Male Infertility Due To Acephalic Spermatozoa
Male infertility, Androgen insufficiency, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm ... ORPHA:529970
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Small scrotum, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas... ORPHA:177901
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Ovarian Dysgenesis 2
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Secondary amenorrh... OMIM:300510
Spermatogenic Failure 73
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619878
Spermatogenic Failure 59
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619645
Spermatogenic Failure 60
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619646
Spermatogenic Failure 74
Non-obstructive azoospermia, Spermatogenesis maturation arrest, Male infertility OMIM:619937
Premature Ovarian Failure 5
Streak ovary, Premature ovarian insufficiency, Secondary amenorrhea, Primary amenorrhea, Hypoplas... OMIM:611548
Pituitary Deficiency Due To Empty Sella Turcica Syndrome
Decreased response to growth hormone stimulation test, Precocious puberty, Pituitary adenoma, Adr... ORPHA:91354
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal sperm tail morpho... ORPHA:399808
Meningioma
Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy... ORPHA:2495
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Pituitary Stalk Interruption Syndrome
Death in infancy, Ectopic posterior pituitary, Hypoplasia of penis, Adrenal hypoplasia, Cryptorch... ORPHA:95496
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Micropenis, Pituitary hypothyroidism, Anterior pituitary hypoplasia OMIM:619983
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Diabetes mellitus, Pneumonia, Cough, Nonproductive cough, Dyspnea, Pneumoth... ORPHA:36238
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Bi... OMIM:300219
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
Gangliocytoma
Decreased female libido, Pituitary null cell adenoma, Elevated circulating growth hormone concent... ORPHA:251937
Oocyte/Zygote/Embryo Maturation Arrest 9
Oocyte arrest at metaphase I, Female infertility OMIM:619011
Laryngeal Neuroendocrine Tumor
Adrenocorticotropic hormone excess, Increased serum serotonin, Elevated circulating calcitonin co... ORPHA:100083
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Retinal Dystrophy With Or Without Extraocular Anomalies
Premature ovarian insufficiency, Secondary amenorrhea, Goiter OMIM:617175
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Hypothyroidism Due To Tsh Receptor Mutations
Reduced radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentration... ORPHA:90673
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Spermatogenic Failure 25
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia OMIM:617960
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Spermatogenic Failure 62
Non-obstructive azoospermia, Male infertility OMIM:619673
Spermatogenic Failure 61
Non-obstructive azoospermia, Male infertility OMIM:619672
Spermatogenic Failure 52
Male infertility, Azoospermia OMIM:619202
Spermatogenic Failure 4
Male infertility, Azoospermia OMIM:270960
Spermatogenic Failure, Y-Linked, 2
Male infertility, Azoospermia OMIM:415000
Spermatogenic Failure 23
Male infertility, Azoospermia OMIM:617707
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Central adrenal insufficiency, Hypogonadotropic hypogonadism, Small pituitary gland, Delayed puberty OMIM:612079
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Oocyte/Zygote/Embryo Maturation Arrest 2
Oocyte arrest at metaphase I, Female infertility OMIM:616780
Oocyte/Zygote/Embryo Maturation Arrest 4
Oocyte arrest at metaphase I, Female infertility OMIM:617743
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Elevated circulating luteinizing hormone le... ORPHA:99429
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Hypercholesterolemia, Decreased circulating T4 conce... ORPHA:90674
Perrault Syndrome 6
Streak ovary, Premature ovarian insufficiency, Irregular menstruation, Primary amenorrhea, Second... OMIM:617565
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Oocyte/Zygote/Embryo Maturation Arrest 14
Oocyte maturation arrest, Female infertility OMIM:620276
Oocyte/Zygote/Embryo Maturation Arrest 5
Lack of oocyte pronucleus formation, Female infertility OMIM:617996
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia, Hypogonadism... OMIM:615993
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Ovarian Dysgenesis 8
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplastic labia majora, Dec... OMIM:618187
Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-activating factor acetylhydrolase deficiency OMIM:614278
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypertriglyceridemia, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect,... OMIM:619013
Septo-Optic Dysplasia Spectrum
Hypoplasia of penis, Anterior pituitary hypoplasia, Maternal diabetes, Cryptorchidism, Abnormalit... ORPHA:3157
Deafness-Infertility Syndrome
Male infertility, Azoospermia ORPHA:94064
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Anaplasti... ORPHA:142
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Hypertriglyceridemia 1
Hypopituitarism, Hypertriglyceridemia OMIM:145750
Oocyte/Zygote/Embryo Maturation Arrest 8
Female infertility OMIM:619009
Oocyte/Zygote/Embryo Maturation Arrest 13
Female infertility OMIM:620154
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Developmental And Epileptic Encephalopathy 108
Small pituitary gland OMIM:620115
Oocyte/Zygote/Embryo Maturation Arrest 12
Female infertility OMIM:619697
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... OMIM:613239
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Oocyte/Zygote/Embryo Maturation Arrest 10
Female infertility OMIM:619176
Bonnemann-Meinecke-Reich Syndrome
Decreased response to growth hormone stimulation test ORPHA:1261
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Endocardial Fibroelastosis
Cryptorchidism, Anterior hypopituitarism, Hypoplasia of penis ORPHA:2022
Premature Ovarian Failure 19
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility OMIM:619245
Thyroid Lymphoma
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Hypothyroidism... ORPHA:97285
Spermatogenic Failure 35
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618341
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Oliver-Mcfarlane Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulat... OMIM:275400
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... ORPHA:140896
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Gonadotropin deficiency, Hyperinsulinemia,... ORPHA:71526
Sim1-Related Prader-Willi-Like Syndrome
Small scrotum, External genital hypoplasia, Xerostomia, Clitoral hypoplasia, Premature adrenarche... ORPHA:398079
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Acromelic Frontonasal Dysplasia
Upper airway obstruction, Cryptorchidism, Hypopituitarism, Anterior pituitary hypoplasia ORPHA:1827
Normosmic Congenital Hypogonadotropic Hypogonadism
Decreased serum testosterone concentration, Hypogonadotropic hypogonadism, Female hypogonadism, N... ORPHA:432
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Congenital Disorder Of Glycosylation, Type Iiq
Small pituitary gland OMIM:617395
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Spermatogenic Failure 20
Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Male infertility OMIM:617593
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
X-Linked Intellectual Disability, Van Esch Type
Hypergonadotropic hypogonadism, Cryptorchidism, Increased circulating gonadotropin level, Absence... ORPHA:163976
Spermatogenic Failure 72
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:619867
Spermatogenic Failure 34
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... OMIM:618153
Hypergonadotropic Hypogonadism And Partial Alopecia
Streak ovary, Hypergonadotropic hypogonadism OMIM:241090
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Female infertility, Goiter OMIM:617577
Spermatogenic Failure, X-Linked, 5
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... OMIM:301099
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Hypogonadism, Micropenis, ... ORPHA:3363
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Non-obstructive azoospermia, Cryptorchidism, Increa... ORPHA:2232
Cog2-Cdg
Small pituitary gland ORPHA:435934
Combined Pituitary Hormone Deficiencies, Genetic Forms
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:95494
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... ORPHA:95613
Sheehan Syndrome
Dyspareunia, Decreased circulating cortisol level, Decreased female libido, Reduced circulating p... ORPHA:91355
Leptin Receptor Deficiency
Diabetes mellitus, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:614963
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Papillary thyroid carcinoma, Nodular goiter, Chronic lung disease, ... ORPHA:319487
Mitochondrial Complex I Deficiency, Nuclear Type 3
Lethargy, Respiratory insufficiency, Death in childhood OMIM:618224
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Sex reversal, Hypoplasia... OMIM:612965
Spermatogenic Failure 33
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618152
Spermatogenic Failure 37
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:618429
Spermatogenic Failure 18
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:617576
Spermatogenic Failure 46
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... OMIM:619095
Spermatogenic Failure 27
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:617965
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Familial Hyperprolactinemia
Hemorrhagic ovarian cyst, Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea ORPHA:397685
Hydatidiform Mole, Recurrent, 3
Female infertility OMIM:618431
Hydatidiform Mole, Recurrent, 4
Female infertility OMIM:618432
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Elevated circulating growt... ORPHA:300373
Perrault Syndrome 2
Streak ovary, Amenorrhea OMIM:614926
Spermatogenic Failure 43
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... OMIM:618751
Spermatogenic Failure 19
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:617592
Spermatogenic Failure 82
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... OMIM:620353
Spermatogenic Failure 49
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619144
Spermatogenic Failure 45
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... OMIM:619094
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Osteosclerosis With Ichthyosis And Premature Ovarian Failure
Hypoplasia of the ovary, Premature ovarian insufficiency OMIM:609993
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Spermatogenic Failure 65
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619712
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Hypogonadism, Decreased serum testoster... OMIM:300869
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Decreased fertility in males, Delayed puberty, ... ORPHA:2965
Ovarian Fibroma
Gonadal calcification, Ovarian fibroma, Abnormality of the ovary ORPHA:314473
Spermatogenic Failure 48
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia OMIM:619108
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Spermatogenic Failure 29
Non-obstructive azoospermia, Male infertility, Immotile sperm OMIM:618091
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Deeah Syndrome
Death in infancy, Neonatal respiratory distress, Decreased response to growth hormone stimulation... OMIM:619004
Spermatogenic Failure 17
Male infertility OMIM:617214
Isolated Exencephaly
Anterior pituitary hypoplasia, Posterior pituitary agenesis, Maternal diabetes ORPHA:563612
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Spermatogenic Failure 56
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... OMIM:619515
Spermatogenic Failure 83
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... OMIM:620354
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Ovarian Fibrothecoma
Ovarian fibroma, Metrorrhagia, Abnormal circulating hormone concentration, Abnormal endometrium m... ORPHA:314478
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Nodular goiter, Papillary thyroid carcinoma, Chronic lung disease, Goiter ORPHA:97290
Oocyte/Zygote/Embryo Maturation Arrest 11
Female infertility OMIM:619643
Oocyte/Zygote/Embryo Maturation Arrest 7
Female infertility OMIM:618550
Oocyte/Zygote/Embryo Maturation Arrest 6
Female infertility OMIM:618353
Progesterone Resistance
Female infertility OMIM:264080
Oocyte/Zygote/Embryo Maturation Arrest 18
Female infertility OMIM:620332
Oocyte/Zygote/Embryo Maturation Arrest 19
Female infertility OMIM:620333
Oocyte/Zygote/Embryo Maturation Arrest 15
Female infertility OMIM:616814
Oocyte/Zygote/Embryo Maturation Arrest 1
Female infertility OMIM:615774
Oocyte/Zygote/Embryo Maturation Arrest 3
Female infertility OMIM:617712
Spermatogenic Failure, X-Linked, 3
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... OMIM:301059
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion, Depression ORPHA:73267
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Spermatogenic Failure 22
Non-obstructive azoospermia, Male infertility, Cryptozoospermia OMIM:617706
Pituitary Dermoid And Epidermoid Cysts
Enlarged pituitary gland, Neoplasm of the anterior pituitary, Oligozoospermia, Hypogonadism, Olig... ORPHA:91351
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Lethargy, Cyanosis ORPHA:71277
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure, Adrenal insufficiency, Lethargy, Pancreatitis OMIM:619386
Perrault Syndrome 1
Increased circulating gonadotropin level, Gonadal dysgenesis, Primary amenorrhea OMIM:233400
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Spermatogenic Failure, X-Linked, 6
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... OMIM:301101
Thymic Neuroendocrine Tumor
Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of the thymus, Pituitary ade... ORPHA:97289
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Fused labia minora, Ambiguous genitalia, female, Abnormality of the uterus, Abnormal vagina morph... ORPHA:2975
Blepharochalasis And Double Lip
Goiter OMIM:109900
Rhyns Syndrome
Hypopituitarism ORPHA:140976
Joubert Syndrome 38
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Small pituitary gland,... OMIM:619476
Spermatogenic Failure 80
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... OMIM:620222
Spermatogenic Failure 40
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... OMIM:618664
Spermatogenic Failure 76
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... OMIM:620084
Spermatogenic Failure 58
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... OMIM:619585
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Hypergonadotropic hypogonadism, Polycystic ovaries ORPHA:2229
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Idiopathic Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iodine upta... ORPHA:95717
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Spermatogenic Failure 54
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... OMIM:619379
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter OMIM:600791
Thyroid Dyshormonogenesis 1
Lethargy, Hypothyroidism, Goiter OMIM:274400
Plin1-Related Familial Partial Lipodystrophy
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... ORPHA:280356
Hjv Or Hamp-Related Hemochromatosis
Diabetes mellitus, Abnormality of endocrine pancreas physiology, Impotence, Hypogonadism, Lethargy ORPHA:79230
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Ir... OMIM:110100
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Triple A Syndrome
Anterior hypopituitarism, Adrenal insufficiency, Respiratory insufficiency ORPHA:869
Primary Ciliary Dyskinesia
Male infertility, Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchov... ORPHA:244
Spermatogenic Failure 42
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... OMIM:618745
Spermatogenic Failure 47
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella OMIM:619102
Kearns-Sayre Syndrome
Anterior hypopituitarism ORPHA:480
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Goiter OMIM:210740
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Spermatogenic Failure 70
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia OMIM:619828
Spermatogenic Failure 39
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... OMIM:618643
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Hypogonadotropic hypogonadism, Decreased ... ORPHA:177907
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Cyanosis, Hypospadias, Scrotal hypospadias, Elevated circulating luteinizing hormo... OMIM:250790
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Abnormal endocrine physiology, Hyperthyroidism, Elevated circula... ORPHA:562
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Tetragametic Chimerism
Bifid scrotum, True hermaphroditism, Ovotestis, Cryptorchidism, Perineal hypospadias, Abnormality... ORPHA:199310
Rudiger Syndrome
Ovarian cyst, Micropenis, Bicornuate uterus OMIM:268650
Satoyoshi Syndrome
Nephrogenic diabetes insipidus, Hypoplasia of the uterus, Hypoplasia of the ovary, Abnormality of... ORPHA:3130
Snakebite Envenomation
Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis, Hypopitu... ORPHA:449285
Pallister-Hall-Like Syndrome
Death in infancy, Micropenis, Pulmonary hypoplasia, Hypothalamic hamartoma, Anterior hypopituitarism OMIM:241800
49,Xxxyy Syndrome
Decreased serum testosterone concentration, External genital hypoplasia, Abnormality of the testi... ORPHA:261534
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Decreased circulating cortisol level, Decreased response to growth hormone stimulation test, Adre... OMIM:609734
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Pituitary Deficiency Due To Rathke Cleft Cysts
Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Pit... ORPHA:91350
Acth Deficiency, Isolated
Jaundice, Decreased circulating cortisol level, Adrenocorticotropic hormone deficiency, Adrenal h... OMIM:201400
Leukoencephalopathy With Vanishing White Matter 1
Premature ovarian insufficiency, Decreased circulating progesterone, Secondary amenorrhea, Primar... OMIM:603896
Spermatogenic Failure 79
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:620196
Adrenocortical Carcinoma
Increased urinary cortisol level, Diabetes mellitus, Paradoxical increased cortisol secretion on ... ORPHA:1501
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
Spermatogenic Failure 11
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:615081
Spermatogenic Failure 10
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia OMIM:614822
Spermatogenic Failure 7
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia OMIM:612997
Magel2-Related Prader-Willi-Like Syndrome
Recurrent respiratory infections, Premature pubarche, Small scrotum, External genital hypoplasia,... ORPHA:398069
Spermatogenic Failure 78
Male infertility, Microcephalic sperm head, Tapered sperm head OMIM:620170
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Hemochromatosis, Type 2A
Hypogonadotropic hypogonadism, Azoospermia, Infertility, Lethargy, Amenorrhea OMIM:602390
Mehmo Syndrome
Male hypogonadism, Micropenis, Decreased response to growth hormone stimulation test, Delayed pub... OMIM:300148
Developmental And Epileptic Encephalopathy 40
Lethargy, Hyaline membranes OMIM:617065
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Bilateral cryptorchidism, Cryptorchidis... OMIM:613457
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm
Abnormal sperm morphology, Male infertility, Immotile sperm OMIM:608653
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Polyembryoma
Abnormal circulating gonadotropin concentration, Isosexual precocious puberty, Abnormality of the... ORPHA:180229
Prader-Willi Syndrome
Small scrotum, Decreased response to growth hormone stimulation test, External genital hypoplasia... ORPHA:739
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Lethargy ORPHA:26792
Febrile Infection-Related Epilepsy Syndrome
Lethargy, Sinusitis, Cough ORPHA:163703
Insulinoma
Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathyroidism,... ORPHA:97279
Spermatogenic Failure 36
Abnormal sperm morphology, Male infertility OMIM:618420
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Elevated circulating thyroid-stimulating hormone concentration, Congenital ... ORPHA:226313
Spermatogenic Failure 41
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella OMIM:618670
Deafness-Infertility Syndrome
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... OMIM:611102
Boucher-Neuhauser Syndrome
Decreased circulating gonadotropin concentration, Hypogonadotropic hypogonadism OMIM:215470
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia... ORPHA:276608
Woodhouse-Sakati Syndrome
Decreased serum testosterone concentration, Streak ovary, Hypoplasia of the fallopian tube, Decre... ORPHA:3464
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Multifocal Atrial Tachycardia
Dyspnea, Cryptorchidism, Tachypnea, Lethargy, Hypothyroidism ORPHA:3282
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Hyperhidrosis, Pheochromocytoma, Elevated circulating calcitonin con... ORPHA:1332
Spermatogenic Failure 1
Male infertility, Cryptozoospermia, Oligozoospermia OMIM:258150
Thyrocerebroretinal Syndrome
Goiter OMIM:274240
Septopreoptic Holoprosencephaly
Precocious puberty, Anterior hypopituitarism, Central diabetes insipidus ORPHA:280195
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Recurrent respiratory infections, Hypoparathyroidism, Thyroid hemiagenesis, R... ORPHA:209905
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Abnormality of the uterus, Gonadoblastoma, Abnormal va... OMIM:194072
Mitochondrial Complex I Deficiency, Nuclear Type 9
Neonatal death, Lethargy, Breathing dysregulation, Hypoventilation OMIM:618232
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Burkitt Lymphoma
Abnormality of the ovary ORPHA:543
Thyrocerebrorenal Syndrome
Euthyroid goiter ORPHA:3327
Early Myoclonic Encephalopathy
Recurrent respiratory infections, Lethargy ORPHA:1935
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Classic Galactosemia
Male infertility, Decreased serum insulin-like growth factor 1, Premature ovarian insufficiency, ... ORPHA:79239
Igg4-Related Thyroid Disease
Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland morphology, Gra... ORPHA:64744
Lethal Infantile Mitochondrial Myopathy
Lethargy, Neonatal respiratory distress ORPHA:254857
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
X-Linked Hypohidrotic Ectodermal Dysplasia
Type I diabetes mellitus, Anterior hypopituitarism, Hypohidrosis ORPHA:181
Orthostatic Hypotension 1
Retrograde ejaculation, Reduced circulating prolactin concentration OMIM:223360
Mitochondrial Complex I Deficiency, Nuclear Type 4
Lethargy, Apnea, Death in childhood OMIM:618225
14Q22Q23 Microdeletion Syndrome
Small scrotum, Anterior pituitary hypoplasia, Adrenal hypoplasia, Cryptorchidism, Abnormality of ... ORPHA:264200
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Gonadal calcification, Oxygen desaturation on exertio... ORPHA:60025
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... OMIM:619751
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Excessive insulin response to... ORPHA:276575
Short Stature-Wormian Bones-Dextrocardia Syndrome
Cryptorchidism, Anterior hypopituitarism, Midshaft hypospadias ORPHA:2863
Testicular Agenesis
Decreased serum testosterone concentration, Abnormal vas deferens morphology, Urethrovaginal fist... ORPHA:325124
Microphthalmia, Syndromic 3
Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Hypospadias, Cryptorchidism, Hypoth... OMIM:206900
Familial Peripheral Male-Limited Precocious Puberty
Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism ORPHA:3000
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Apnea, Adrenal hypoplasia OMIM:240200
Spermatogenic Failure 5
Male infertility, Multiflagellar spermatozoa, Macrozoospermia OMIM:243060
Fraser-Like Syndrome
Ovarian cyst OMIM:229230
Spermatogenic Failure 3
Male infertility, Reduced sperm motility OMIM:606766
Spermatogenic Failure, Y-Linked, 1
Male infertility, Reduced sperm motility OMIM:400042
Spermatogenic Failure 55
Male infertility, Reduced sperm motility OMIM:619380
Oocyte/Zygote/Embryo Maturation Arrest 17
Female infertility, Amenorrhea OMIM:620319
Oocyte/Zygote/Embryo Maturation Arrest 20
Female infertility, Amenorrhea OMIM:620383
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Spermatogenic Failure 21
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617644
Spermatogenic Failure 16
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:617187
Spermatogenic Failure 44
Male infertility, Acephalic spermatozoa, Reduced sperm motility OMIM:619044
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia, Type I diabetes mellitus, Hyperinsul... ORPHA:276580
Holoprosencephaly 9
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:610829
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Pituitary Gigantism
Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, Increased circulati... ORPHA:99725
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Pendred Syndrome
Hyperparathyroidism, Respiratory insufficiency, Thyroid carcinoma, Hypothyroidism, Goiter ORPHA:705
46,Xx Ovotesticular Difference Of Sex Development
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... ORPHA:2138
Glycine Encephalopathy 1
Lethargy, Death in infancy OMIM:605899
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Aromatase Deficiency
Ovarian cyst, Hypergonadotropic hypogonadism, Female pseudohermaphroditism OMIM:613546
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Lethargy, Respiratory insufficiency due to muscle weakness OMIM:613561
Isolated Atp Synthase Deficiency
Hypogonadism, Lethargy, Hypothyroidism, Respiratory distress ORPHA:254913
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Bradykinesia, Lethargy, Death in childhood OMIM:618683
Maternal Uniparental Disomy Of Chromosome 2
Neonatal respiratory distress, Premature ovarian insufficiency, Miscarriage, Decreased response t... ORPHA:96179
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Spermatogenic Failure 64
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... OMIM:619696
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Immunodeficiency 54
Recurrent respiratory infections, Respiratory insufficiency, Adrenocorticotropic hormone excess, ... OMIM:609981
Acute Lung Injury
Respiratory distress, Acute pancreatitis, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachyp... ORPHA:178320
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Spermatogenic Failure 31
Male infertility, Acephalic spermatozoa OMIM:618112
Spermatogenic Failure 53
Male infertility, Tapered sperm head OMIM:619258
Spermatogenic Failure 26
Male infertility, Acephalic spermatozoa OMIM:617961
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Ulnar-Mammary Syndrome
Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Delayed puberty, Breas... OMIM:181450
Leptin Deficiency Or Dysfunction
Decreased serum leptin, Recurrent upper respiratory tract infections, Recurrent pneumonia, Primar... OMIM:614962
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Va... OMIM:615109
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy OMIM:237310
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Glut1 Deficiency Syndrome 1
Lethargy, Paroxysmal lethargy OMIM:606777
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Ectodermal dysplasia, Hypopituitarism, Recurrent sinusitis, Hypohidrosis ORPHA:98813
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating cortisol level, Ambiguous genitalia, female, Increased circulating renin le... ORPHA:90791
Hyperinsulinism Due To Hnf1A Deficiency
Maturity-onset diabetes of the young, Maternal diabetes, Episodic hyperhidrosis, Hyperinsulinemia... ORPHA:324575
Pontocerebellar Hypoplasia, Type 6
Lethargy, Apnea, Death in childhood OMIM:611523
46,Xy Sex Reversal 7
Streak ovary, Hypoplasia of the fallopian tube, Primary amenorrhea, Hypoplasia of the uterus, Sex... OMIM:233420
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Hyperhidrosis, Resp... OMIM:614299
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Apathy, Respiratory distress, Depression ORPHA:240085
Microphthalmia, Syndromic 5
Cryptorchidism, Ectopic posterior pituitary, Micropenis OMIM:610125
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Gaba-Transaminase Deficiency
Lethargy, Death in childhood OMIM:613163
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Parathyroid adenoma, Emphysema, Medullary thyroid carcinoma ORPHA:122
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Evans Syndrome
Epistaxis, Dyspnea, Jaundice, Lethargy, Bruising susceptibility, Petechiae ORPHA:1959
Craniopharyngioma
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pituitary, Pitu... ORPHA:54595
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Decreased response to growth hormone stimulation test, Depression, Pulmonary fibrosis, Micropenis... ORPHA:457240
Late-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... ORPHA:556037
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Premature ... ORPHA:280679
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Spinocerebellar Ataxia Type 32
Male infertility, Azoospermia, Testicular atrophy ORPHA:276183
Mitochondrial Complex I Deficiency, Nuclear Type 6
Lethargy, Apnea, Respiratory insufficiency OMIM:618228
Combined Oxidative Phosphorylation Deficiency 2
Neonatal death, Lethargy OMIM:610498
4H Leukodystrophy
Abnormality of thyroid physiology, Hypogonadotropic hypogonadism, Decreased response to growth ho... ORPHA:289494
Fowler Urethral Sphincter Dysfunction Syndrome
Abnormality of the ovary, Polycystic ovaries ORPHA:2795
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy ORPHA:79283
Autoimmune Polyendocrinopathy Type 3
Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Primary adrenal insufficiency, Abn... ORPHA:227982
Hyperinsulinism Due To Ucp2 Deficiency
Episodic hyperhidrosis, Hyperinsulinemic hypoglycemia, Excessive insulin response to glucagon tes... ORPHA:276556
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:254210
Hereditary Central Diabetes Insipidus
Lethargy, Diabetes insipidus ORPHA:30925
Early-Onset Familial Hypoaldosteronism
Abnormal external genitalia, Abnormal circulating corticosterone level, Elevated serum 11-deoxyco... ORPHA:556030
Aromatase Deficiency
Macroorchidism, postpubertal, Male infertility, Hypergonadotropic hypogonadism, Female infertilit... ORPHA:91
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Restrictive ventilatory defect, Hypopituitarism, Delayed puberty OMIM:600462
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Autoimmune Polyendocrinopathy Type 4
Hypergonadotropic hypogonadism, Primary adrenal insufficiency, Abnormal pulmonary interstitial mo... ORPHA:227990
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... ORPHA:8
Homocystinuria Without Methylmalonic Aciduria
Lethargy ORPHA:622
Boomerang Dysplasia
Aplasia/Hypoplasia of the lungs, Cryptorchidism, Decreased response to growth hormone stimulation... ORPHA:1263
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res... ORPHA:293978
49,Xyyyy Syndrome
External genital hypoplasia, Abnormality of the testis size, Increased circulating gonadotropin l... ORPHA:99330
Spermatogenic Failure 81
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia OMIM:620277
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Respiratory distress ORPHA:2596
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Small pituitary gland OMIM:614195
Dyrk1A-Related Intellectual Disability Syndrome
Hypospadias, Anterior pituitary hypoplasia, Cryptorchidism, Micropenis, Breast hypoplasia ORPHA:464306
Immunodeficiency, Common Variable, 10
Decreased response to growth hormone stimulation test, Asthma, Recurrent pneumonia, Central adren... OMIM:615577
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... OMIM:605809
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Pheochromocytoma, Thyroid c... OMIM:160980
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy OMIM:613710
Ciliary Dyskinesia, Primary, 1
Male infertility, Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Cilia... OMIM:244400
Corticosterone Methyloxidase Type Ii Deficiency
Decreased circulating aldosterone level, Increased circulating 18-hydroxycortisone level, Increas... OMIM:610600
Intrahepatic Cholestasis Of Pregnancy
Neonatal respiratory distress, Jaundice, Depression, Abnormal pineal melatonin secretion, Hypothy... ORPHA:69665
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Methylmalonic Acidemia With Homocystinuria
Lethargy ORPHA:26
Lenz-Majewski Hyperostotic Dwarfism
Cryptorchidism, Chordee, Hypospadias, Anterior pituitary hypoplasia OMIM:151050
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Rhyns Syndrome
Anterior hypopituitarism, Reduced circulating growth hormone concentration, Decreased response to... OMIM:602152
Central Diabetes Insipidus
Lethargy, Diabetes insipidus, Depression ORPHA:178029
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Developmental And Epileptic Encephalopathy 92
Lethargy OMIM:617829
Estrogen Resistance
Increased circulating osteocalcin level, Hyperinsulinemia, Increased serum estradiol, Primary ame... OMIM:615363
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Abnormal thalamic MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
Mitochondrial Complex I Deficiency, Nuclear Type 5
Lethargy, Apnea, Respiratory insufficiency OMIM:618226
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Ambiguous genitalia, Abnorm... ORPHA:2166
Müllerian Aplasia And Hyperandrogenism
Primary amenorrhea, Hypoplasia of the uterus, Increased serum testosterone level, Abnormal vagina... ORPHA:247768
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities
Death in infancy, Neonatal respiratory distress, Decreased response to growth hormone stimulation... OMIM:618922
Temple Syndrome
Precocious puberty, Cryptorchidism, Type II diabetes mellitus, Decreased response to growth hormo... ORPHA:254516
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Pulmonary arterial hypertension, Lethargy, Death in infancy, Death in childhood OMIM:619064
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency OMIM:614399
Benign Samaritan Congenital Myopathy
Lethargy, Abnormal respiratory system physiology ORPHA:324581
Pyruvate Dehydrogenase E1-Alpha Deficiency
Lethargy, Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress OMIM:312170
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr... ORPHA:454836
Bronchial Neuroendocrine Tumor
Pneumonia, Elevated circulating growth hormone concentration, Nonproductive cough, Dyspnea, Asthm... ORPHA:97287
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Abnormal lung lobation, Gonadotropin deficiency, Micropenis, A... ORPHA:672
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy OMIM:610006
Vitamin B12-Responsive Methylmalonic Acidemia
Lethargy, Respiratory insufficiency ORPHA:28
Dihydropyrimidine Dehydrogenase Deficiency
Lethargy OMIM:274270
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Myasthenic Syndrome, Congenital, 22
Decreased response to growth hormone stimulation test OMIM:616224
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Thyroid hypoplasia, Congenital hypothyroidism ORPHA:521445
Cutis Laxa, Autosomal Recessive, Type Ic
Death in infancy, Progeroid facial appearance, Adrenal hypoplasia, Atelectasis, Recurrent pneumon... OMIM:613177
Trichothiodystrophy 5, Nonphotosensitive
Cutis marmorata, Progeroid facial appearance, Micropenis, Cutaneous photosensitivity, Panhypopitu... OMIM:300953
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Goiter, Jaundice, Increased circulating free T3, Thyrotoxicosis wi... ORPHA:525731
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Xq21 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Adrenocorticotropic hormone deficiency, Pi... ORPHA:1435
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Thyroid C cell hyperplasia, Increased circulating cortisol level, Pheochromo... OMIM:171400
Mccune-Albright Syndrome
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... OMIM:174800
Bardet-Biedl Syndrome
Cryptorchidism, Hypoplasia of penis, Hypoplasia of the ovary, Hypogonadism ORPHA:110
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Erythema, Stillbirth, Pulmonary hypoplasia, Thyroid hypoplasia OMIM:308050
Kallmann Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Hypogon... ORPHA:478
Pallister-Hall Syndrome
Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st... OMIM:146510
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Alstrom Syndrome
Hypertriglyceridemia, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimul... OMIM:203800
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Plethora, Increased urinary cortisol level, Dorsocervical fat pad, Paradoxical increased cortisol... ORPHA:189427
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Lethargy, Pancreatitis ORPHA:289916
Nelson Syndrome
Increased urinary cortisol level, Testicular neoplasm, Pituitary corticotropic cell adenoma, Adre... ORPHA:199244
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Small scrotum, Cryptorchidism, Death in childhood, Micropenis OMIM:615597
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies
Decreased response to growth hormone stimulation test OMIM:615286
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Late-Onset Isolated Acth Deficiency
Hypoparathyroidism, Decreased circulating cortisol level, Premature ovarian insufficiency, Decrea... ORPHA:199299
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Thyroid agenesis, Cryptorchidism, Ectopic thyroid, Hypothyroidism, Thyroid hy... ORPHA:3047
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Diabetes mellitus ORPHA:49827
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Typhoid
Lethargy, Epistaxis, Abnormal pulmonary interstitial morphology, Cough ORPHA:99745
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central diabete... ORPHA:293987
Severe Canavan Disease
Lethargy ORPHA:314911
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,... ORPHA:98913
Dihydrolipoamide Dehydrogenase Deficiency
Lethargy, Death in childhood OMIM:246900
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes ORPHA:45452
Poems Syndrome
Diabetes mellitus, Abnormality of the endocrine system, Respiratory insufficiency due to muscle w... ORPHA:2905
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Pulmonary arterial hypertension, Respiratory failure... OMIM:605711
Craniosynostosis 4
Ectopic posterior pituitary OMIM:600775
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia, Cryptorch... OMIM:614732
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Lethargy, Pancreatitis ORPHA:79312
Dominant Beta-Thalassemia
Hypoparathyroidism, Diabetes mellitus, Dyspnea, Jaundice, Adrenal insufficiency, Delayed puberty,... ORPHA:231226
Galloway-Mowat Syndrome 6
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:618347
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mellitus, Polycys... ORPHA:79085
Autosomal Dominant Hyper-Ige Syndrome
Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough ORPHA:2314
Bilateral Perisylvian Polymicrogyria
Aspiration, Ectopic posterior pituitary, Apnea ORPHA:98889
Fg Syndrome Type 1
Hypospadias, Facial wrinkling, Cryptorchidism, Small pituitary gland, Pulmonary arterial hyperten... ORPHA:93932
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete
Sex reversal, Hyperaldosteronism, Adrenal insufficiency, Adrenocorticotropic hormone excess OMIM:613743
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Lethargy OMIM:617900
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, Am... ORPHA:289548
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Lethargy, Inspiratory stridor, Irregular respiration OMIM:604377
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Ambiguous genitalia, male... ORPHA:168558
Noonan Syndrome 12
Decreased response to growth hormone stimulation test OMIM:618624
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Hypospadias OMIM:300934
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Treacher-Collins Syndrome
Hypoplasia of penis, Small scrotum, Cryptorchidism, Abnormality of the adrenal glands, Hypoplasia... ORPHA:861
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Ciliary Dyskinesia, Primary, 50
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... OMIM:620356
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Lethargy OMIM:614922
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Cryptorchidism, Tachypnea, Pulmonary arterial hypertension, Lethargy OMIM:614857
Symptomatic Form Of Hfe-Related Hemochromatosis
Diabetes mellitus, Hypogonadotropic hypogonadism, Amenorrhea, Apathy, Infertility, Erectile dysfu... ORPHA:465508
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory... ORPHA:333
Immunodeficiency 83, Susceptibility To Viral Infections
Lethargy OMIM:613002
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Giant Axonal Neuropathy
Abnormal pituitary gland morphology ORPHA:643
Juberg-Hayward Syndrome
Decreased response to growth hormone stimulation test OMIM:216100
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Hypercalcemia, Infantile, 1
Lethargy, Decreased circulating parathyroid hormone level OMIM:143880
Succinic Acidemia
Respiratory distress OMIM:600335
Microphthalmia, Syndromic 11
Agenesis of pineal gland OMIM:614402
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Hereditary Methemoglobinemia
Cyanosis, Exertional dyspnea ORPHA:621
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Short-Rib Thoracic Dysplasia 12
Ambiguous genitalia, Atelectasis, Respiratory insufficiency, Hypoplastic nipples, Pulmonary hypop... OMIM:269860
Chilton-Okur-Chung Neurodevelopmental Syndrome
Hypospadias, Anterior pituitary hypoplasia, Epistaxis, Cryptorchidism, Asthma, Chordee, Micropenis OMIM:619841
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Beta-Thalassemia Major
Hypoparathyroidism, Diabetes mellitus, Dyspnea, Jaundice, Adrenal insufficiency, Delayed puberty,... ORPHA:231214
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency
Decreased circulating cortisol level, Decreased circulating renin level, Isosexual precocious pub... ORPHA:90795
Neurooculorenal Syndrome
Decreased circulating cortisol level, Ectopic posterior pituitary, Cryptorchidism, Decreased circ... OMIM:620305
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Lethargy, Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress OMIM:617977
Lujo Hemorrhagic Fever
Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Hyperhidrosis, Rhinitis, Ecchym... ORPHA:319213
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small scrotum, Hypospadias, Cryptorchidism, Recurrent upper respiratory tra... OMIM:607143
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Hypoplasia of penis, Decreased response to growth hormone stimulation test, Congenital hypothyroi... OMIM:601427
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Perianal erythema, Hypogonadism, Perioral erythema, Lethargy, Decreased serum testosterone concen... OMIM:201100
Congenital Heart Block
Pleural effusion, Cyanosis, Crackles, Hyperhidrosis ORPHA:60041
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Double Outlet Right Ventricle
Hypoparathyroidism, Cyanosis, Tachypnea, Pulmonary artery atresia, Aplasia/Hypoplasia of the thymus ORPHA:3426
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Cyanosis, Respiratory distress ORPHA:464453
Azoospermia, Obstructive, With Nephrolithiasis
Male infertility, Spermatocele, Obstructive azoospermia OMIM:301060
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy OMIM:616974
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Recurrent respiratory infections, Absent nipple, Aplasia of the thymus, Congenital hypothyroidism... OMIM:620186
Complete Atrioventricular Septal Defect
Cyanosis, Intercostal retractions, Crackles, Wheezing, Recurrent pneumonia, Tachypnea, Hyperhidro... ORPHA:1329
Pyruvate Dehydrogenase Deficiency
Dyspnea, Lethargy, Tachypnea ORPHA:765
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage ORPHA:238459
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Acquired Aneurysmal Subarachnoid Hemorrhage
Hypercholesterolemia, Hypopituitarism, Hypothyroidism ORPHA:90065
Familial Adenomatous Polyposis 4
Ovarian cyst, Uterine leiomyoma, Thyroid adenoma OMIM:617100
Myotonic Dystrophy 1
Hypogonadism, Cholelithiasis, Testicular atrophy, Respiratory distress OMIM:160900
Prader-Willi Syndrome
Recurrent respiratory infections, Hypoventilation, Small scrotum, Hypogonadotropic hypogonadism, ... OMIM:176270
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Bronchiectasis, Immotile cilia... OMIM:606763
Tularemia
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat... ORPHA:3392
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Lethargy, Pleural effusion, Petec... OMIM:617397
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Micropenis, Small scrotum ORPHA:370924
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Anterior pituitary hypoplasia, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, De... ORPHA:466791
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test OMIM:606407
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circulating follicle sti... ORPHA:3044
Scrub Typhus
Dyspnea, Hyperhidrosis, Restrictive ventilatory defect, Cough, Lethargy ORPHA:83317
Microform Holoprosencephaly
Hypoplasia of penis, Maternal diabetes, Asthma, Panhypopituitarism, Ambiguous genitalia, Hypothyr... ORPHA:280200
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Pneumonia, Episodic tachypnea, Increased circulating free fatty acid level,... ORPHA:26793
Pseudohypoparathyroidism Type 1B
Decreased response to growth hormone stimulation test, Dyspnea, Pseudohypoparathyroidism, Depress... ORPHA:94089
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Maternal diabetes, Tachypnea, Anomalous pulmonary venous return, Hyperhidrosis, Hypoxemia ORPHA:860
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Biliary, Renal, Neurologic, And Skeletal Syndrome
Recurrent respiratory infections, Hypercholesterolemia, Anterior pituitary hypoplasia, Jaundice, ... OMIM:619534
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Gomez-Lopez-Hernandez Syndrome
Bipolar affective disorder, Decreased response to growth hormone stimulation test, Depression OMIM:601853
Vitamin B12-Unresponsive Methylmalonic Acidemia
Lethargy, Pancreatitis, Respiratory insufficiency ORPHA:27
Holocarboxylase Synthetase Deficiency
Respiratory distress, Lethargy, Tachypnea ORPHA:79242
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress OMIM:620011
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy ORPHA:927
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Male infertility, Congenital hypoparathyroidism, Parathyroid agenesis ORPHA:2239
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Crigler-Najjar Syndrome
Lethargy, Jaundice ORPHA:205
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Decreased response to growth hormone stimulation test ORPHA:436174
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Abnormal sperm motility, O... ORPHA:1359
Propionic Acidemia
Lethargy, Tachypnea, Apnea, Pancreatitis OMIM:606054
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... ORPHA:254864
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Lethargy ORPHA:101150
Malaria
Respiratory distress ORPHA:673
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria ORPHA:100057
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Cutis marmorata, Decreased response to growth hormone stimulation test OMIM:609757
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Lethargy, Apnea, Hyperventilation OMIM:229700
Spermatogenic Failure 38
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... OMIM:618433
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Respiratory distress ORPHA:240103
Alobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnorma... ORPHA:220386
Carnitine Deficiency, Systemic Primary
Respiratory distress, Lethargy OMIM:212140
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira... ORPHA:258
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Diabetic ketoacidosis, Respiratory failure,... ORPHA:70578
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Neonatal respiratory distress, Hypospadias, Small pituitary gland, Micropenis OMIM:619479
Hereditary Bullous Dystrophy, Macular Type
Pneumonia, External genital hypoplasia, Cryptorchidism, Acrocyanosis, Decreased testicular size ORPHA:1867
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Pig... OMIM:610489
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Hypoplasminogenemia
Cervicitis, Abnormality of the ovary, Abnormal fallopian tube morphology ORPHA:722
Zygomycosis
Diabetes mellitus, Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute ... ORPHA:73263
Dihydropyrimidinase Deficiency
Lethargy OMIM:222748
Citrullinemia Type I
Lethargy, Tachypnea ORPHA:247525
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Pneumothorax, Glandular hypospadias, Pulmonary hypoplasia, Lethargy OMIM:620306
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Lethargy, Respiratory failure, Respiratory insufficiency ORPHA:746
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Lethargy, Tachypnea, Respiratory arrest, Death in infancy OMIM:201475
Pigmented Nodular Adrenocortical Disease, Primary, 2
Pigmented micronodular adrenocortical disease, Paradoxical increased cortisol secretion on dexame... OMIM:610475
Srd5A3-Cdg
Hypothyroidism, Decreased response to growth hormone stimulation test ORPHA:324737
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Lethargy, Respiratory arrest OMIM:600649
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Hyperinsulinemia, Hyperhidrosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia... ORPHA:263455
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Cough ORPHA:99825
Isolated Biliary Atresia
Atretic gallbladder, Jaundice, Xanthelasma, Bile duct proliferation, Prolonged neonatal jaundice,... ORPHA:30391
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Lethargy, Exertional dyspnea ORPHA:42
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema ORPHA:1164
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Pulmonary hypoplasia OMIM:616733
Tricuspid Atresia
Pulmonary artery atresia, Cyanosis ORPHA:1209
Solitary Median Maxillary Central Incisor
Anterior hypopituitarism, Decreased response to growth hormone stimulation test OMIM:147250
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Bipolar affective disorder, Respiratory insufficiency, Depres... ORPHA:254892
Spermatogenic Failure, X-Linked, 7
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... OMIM:301106
Dengue Fever
Epistaxis, Cardiorespiratory arrest, Lethargy, Bruising susceptibility, Petechiae ORPHA:99828
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Neonatal insulin-dependent diabetes mellitus, Exocrine pancreatic insuffici... ORPHA:2255
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea OMIM:614669
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Stankiewicz-Isidor Syndrome
Hypospadias, Cryptorchidism, Pineal cyst, Shawl scrotum, Micropenis OMIM:617516
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv... ORPHA:536467
Pulmonary Arteriovenous Malformation
Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Pulmonary hemorrhage, C... ORPHA:2038
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Hypospadias, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Liv... OMIM:618336
Riboflavin Deficiency
Lethargy OMIM:615026
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory failure, Respiratory distress OMIM:620166
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cyanosis, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Type I diabetes mellitus, Nodular goiter, Premature thelarche, Polycystic ovaries ORPHA:371428
Breath-Holding Spells
Cyanosis OMIM:607578
Hydranencephaly
Lethargy, Thalamic edema, Dysgenesis of the thalamus, Atrophic pituitary gland ORPHA:2177
Autoimmune Polyendocrinopathy Type 2
Hypoparathyroidism, Abnormality of the thyroid gland, Primary adrenal insufficiency, Hypogonadism... ORPHA:3143
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... OMIM:211530
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Abnormal circulating calcium-phosphate regulating hormone concentration, Resp... ORPHA:50810
Idiopathic Intracranial Hypertension
Lethargy, Depression ORPHA:238624
22Q11.2 Deletion Syndrome
Hypoparathyroidism, Hyperthyroidism, Bipolar affective disorder, Hypospadias, Atelectasis, Crypto... ORPHA:567
Silver-Russell Syndrome 1
Testicular seminoma, Hypospadias, Decreased response to growth hormone stimulation test OMIM:180860
Diethylstilbestrol Syndrome
Premature ovarian insufficiency, Hypospadias, Vaginal neoplasm, Decreased fertility in females, A... ORPHA:1916
Oculocerebrorenal Syndrome Of Lowe
Recurrent respiratory infections, Hyperparathyroidism, Death in infancy, Atelectasis, Cryptorchid... ORPHA:534
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Cryptorchidism, Respiratory insufficiency ORPHA:1145
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Citrullinemia Type Ii
Hypertriglyceridemia, Hypercholesterolemia, Hyperlipidemia, Mania, Lethargy, Delayed menarche, Pa... ORPHA:247585
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Apnea, Decreased response to ... OMIM:619503
Meningococcal Meningitis
Lethargy, Neonatal respiratory distress, Petechiae, Purpura ORPHA:33475
8Q24.3 Microdeletion Syndrome
Respiratory distress, Ectopic posterior pituitary, Abnormal lung lobation, Exocrine pancreatic in... ORPHA:508488
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Lethargy, Pancreatitis OMIM:251000
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Moebius Syndrome
Respiratory distress, Micropenis, Hypogonadotropic hypogonadism, Decreased testicular size OMIM:157900
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Hypogonadotropic hypogonadism, Bilateral cryptorchidism, Pulmonary artery hypoplasia, D... ORPHA:2326
Cholera
Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Lethargy, Hyperventilation ORPHA:173
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Respiratory tract infection, Atelectasis, Respiratory insufficie... ORPHA:365
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Exertional dyspnea OMIM:250800
Rabson-Mendenhall Syndrome
Reduced subcutaneous adipose tissue, Increased pineal volume, Enlarged ovaries, Precocious pubert... ORPHA:769
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Epididymitis, Delaye... OMIM:307200
Congenital Fibrinogen Deficiency
Cyanosis, Hemorrhagic ovarian cyst, Micropenis, Bruising susceptibility, Decreased testicular siz... ORPHA:335
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea ORPHA:2759
Esophageal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Abnormal external genitalia, Br... ORPHA:1199
Restrictive Dermopathy 2
Respiratory distress, Cyanosis OMIM:619793
Ritscher-Schinzel Syndrome 1
Hypospadias, Decreased response to growth hormone stimulation test, Adrenal hypoplasia OMIM:220210
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Posterior pituitary hypoplasia, Abnormality of the anterior pituitary ORPHA:75389
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Somatomammotropinoma
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:314769
15Q24 Microdeletion Syndrome
Cryptorchidism, Microphallus, Hypospadias, Decreased response to growth hormone stimulation test ORPHA:94065
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Multiple Endocrine Neoplasia, Type Iib
Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyroid hyperplasia, Nodular... OMIM:162300
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Intellectual Disability-Strabismus Syndrome
Decreased serum insulin-like growth factor 1, Hypospadias, Decreased response to growth hormone s... ORPHA:363528
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary... ORPHA:3309
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Pulmonary ... ORPHA:2519
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO... OMIM:233450
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Myasthenia Gravis
Hyperthyroidism, Dyspnea, Primary adrenal insufficiency, Abnormal thymus morphology, Acrocyanosis... ORPHA:589
Cyclic Vomiting Syndrome
Lethargy OMIM:500007
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Thyroid Ectopia
Abnormality of the thyroid gland, Hypothyroidism, Ectopic thyroid ORPHA:95712
Digeorge Syndrome
Bipolar affective disorder, Parathyroid agenesis, Decreased circulating parathyroid hormone level... OMIM:188400
Myotonic Dystrophy 2
Type II diabetes mellitus, Hypogonadism, Elevated circulating follicle stimulating hormone level,... OMIM:602668
Central Neurocytoma
Lethargy, Depression ORPHA:73256
Ogden Syndrome
Cryptorchidism, Pulmonary artery stenosis, Lethargy ORPHA:276432
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Decreased circulating parathyroid hormone ... OMIM:241410
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Meier-Gorlin Syndrome 6
Recurrent respiratory infections, Decreased response to growth hormone stimulation test, Cryptorc... OMIM:616835
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Lethargy OMIM:236270
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Frontorhiny
Hypopituitarism, Diabetes insipidus ORPHA:391474
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, N... ORPHA:97280
Spermatogenic Failure 6
Globozoospermia, Decreased acrosin in sperm head, Male infertility OMIM:102530
Mpdu1-Cdg
Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation test ORPHA:79323
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Mogs-Cdg
Respiratory distress, Hypoventilation, Apnea, External genital hypoplasia, Hydrocele testis, Inap... ORPHA:79330
Hyperphenylalaninemia, Bh4-Deficient, B
Lethargy OMIM:233910
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic... OMIM:615512
Cardiofaciocutaneous Syndrome 4
Decreased response to growth hormone stimulation test, Hyperhidrosis OMIM:615280
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Lethargy OMIM:250620
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Lethargy, Apnea OMIM:210200
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Pulmonary hypoplasia, Ambiguous genitalia OMIM:617895
Acromegaly
Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circulating growth hormo... ORPHA:963
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Irregular menstruation, Respiratory failure, Uterine leiomyo... OMIM:616482
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy OMIM:184260
Gaucher Disease, Perinatal Lethal
Respiratory distress, Apnea, Apathy, Pulmonary hypoplasia, Neonatal death, Petechiae, Purpura OMIM:608013
Cohen Syndrome
Decreased response to growth hormone stimulation test, Delayed puberty OMIM:216550
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... OMIM:608836
16P12.1P12.3 Triplication Syndrome
Bilateral cryptorchidism, Decreased response to growth hormone stimulation test ORPHA:485405
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Elevate... OMIM:305400
Relapsing Polychondritis
Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura ORPHA:728
Congenital Factor Vii Deficiency
Ovarian cyst ORPHA:327
Developmental And Epileptic Encephalopathy 41
Lethargy OMIM:617105
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Respiratory insufficiency OMIM:610773
Buerger Disease
Acrocyanosis, Hyperhidrosis ORPHA:36258
Histiocytoid Cardiomyopathy
Cyanosis, Tachypnea, Polycystic ovaries, Cough, Lethargy, Pulmonary edema ORPHA:137675
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Transient hyperlipidemia ORPHA:156
Acromelic Frontonasal Dysostosis
Cryptorchidism, Hypopituitarism, Upper airway obstruction OMIM:603671
Pyruvate Dehydrogenase E3 Deficiency
Lethargy ORPHA:2394
Shwachman-Diamond Syndrome
Diabetes mellitus, Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, S... ORPHA:811
Infantile Liver Failure Syndrome 2
Lethargy, Jaundice OMIM:616483
Susac Syndrome
Lethargy, Apathy ORPHA:838
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Alpha-1-Antitrypsin Deficiency
Jaundice, Emphysema ORPHA:60
Sepsis In Premature Infants
Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ... ORPHA:90051
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Spermatogenic Failure 9
Globozoospermia, Male infertility OMIM:613958
Spermatogenic Failure 67
Globozoospermia, Male infertility OMIM:619803
Spermatogenic Failure 68
Globozoospermia, Male infertility OMIM:619805
Spermatogenic Failure 69
Globozoospermia, Male infertility OMIM:619826
Spermatogenic Failure 66
Globozoospermia, Male infertility OMIM:619799
Inhalational Anthrax
Respiratory distress, Dyspnea, Abnormal sweat gland morphology ORPHA:247257
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Telangiectasia OMIM:608799
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pancreatic endocrine tumor, Pituitary adenoma,... ORPHA:805
Tbck-Related Intellectual Disability Syndrome
Hyperthyroidism, Bipolar affective disorder, Decreased response to growth hormone stimulation tes... ORPHA:488632
Fanconi Anemia, Complementation Group W
Decreased response to growth hormone stimulation test OMIM:617784
Ebola Hemorrhagic Fever
Dyspnea, Lethargy, Acute pancreatitis, Cough ORPHA:319218
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy OMIM:238970
Renal Hypoplasia, Bilateral
Cryptorchidism, Neonatal respiratory distress, Lethargy ORPHA:97362
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Cowden Syndrome
Abnormal penis morphology, Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycyst... ORPHA:201
Absence Of The Pulmonary Artery
Recurrent respiratory infections, Orthopnea, Cyanosis, Abnormal pulmonary thoracic imaging findin... ORPHA:980
Eosinophilic Granulomatosis With Polyangiitis
Recurrent intrapulmonary hemorrhage, Cutis marmorata, Sinusitis, Abnormal pleura morphology, Asth... ORPHA:183
Familial Hypoaldosteronism
Lethargy, Decreased circulating aldosterone level, Adrenal insufficiency, Increased circulating r... ORPHA:427
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Hypothyroidism, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:619234
3-Hydroxy-3-Methylglutaric Aciduria
Acute pancreatitis, Apnea, Jaundice, Tachypnea, Apathy, Lethargy ORPHA:20
Chromosome 18Q Deletion Syndrome
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... OMIM:601808
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Premature ovarian insufficiency, Female infertility OMIM:619518
Holoprosencephaly
Hypoplasia of penis, Diabetes mellitus, Cryptorchidism, Panhypopituitarism, Respiratory insuffici... ORPHA:2162
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Transient hyperlipidemia OMIM:255120
Aromatic L-Amino Acid Decarboxylase Deficiency
Lethargy, Apnea, Cardiorespiratory arrest, Hyperhidrosis OMIM:608643
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Lethargy, Fasting hyperinsulinemia, Increased circulating free fatty acid level, Hyperinsulinemic... ORPHA:71212
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Hyperlipidemia ORPHA:2089
Atrial Septal Defect, Ostium Primum Type
Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi... ORPHA:99106
Mitochondrial Trifunctional Protein Deficiency 1
Lethargy, Respiratory failure, Respiratory insufficiency OMIM:609015
Lysinuric Protein Intolerance
Hypertriglyceridemia, Hypercholesterolemia, Decreased response to growth hormone stimulation test... ORPHA:470
Fanconi Anemia, Complementation Group I
Hypothyroidism, Decreased response to growth hormone stimulation test OMIM:609053
Isolated Complex I Deficiency
Lethargy, Diabetes mellitus, Respiratory insufficiency ORPHA:2609
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Pneumonia, Respiratory tract infection, Abnormal hypothalamus morphology, Abnormality ... ORPHA:68
Fanconi Anemia, Complementation Group F
Cryptorchidism, Microphallus, Pneumonia, Decreased response to growth hormone stimulation test OMIM:603467
Holocarboxylase Synthetase Deficiency
Lethargy, Tachypnea, Hyperventilation OMIM:253270
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Cryptorchidism, Premature graying of hair, Pulmonary fibrosis, Type I diabetes mellitus, Emphysema OMIM:620365
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Meckel Syndrome 14
Cyanosis, Pneumothorax, Cardiorespiratory arrest, Pulmonary hypoplasia, Aplasia of the uterus, Am... OMIM:619879
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Aicardi-Goutieres Syndrome 1
Diabetes insipidus, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Hypothyroidism, Petechia... OMIM:225750
Acrodysostosis 1 With Or Without Hormone Resistance
Cryptorchidism, Elevated circulating thyroid-stimulating hormone concentration, Irregular menstru... OMIM:101800
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Cervical neoplasm, Thyroid C cell hyperplasia, Primary hyperparat... ORPHA:653
Myopathy, Mitochondrial, And Ataxia
Hyperthyroidism, Primary amenorrhea, Increased circulating prolactin concentration, Depression OMIM:617675
Dravet Syndrome
Bradykinesia, Cyanotic episode ORPHA:33069
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Anomalous pulmonary veno... ORPHA:555874
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Hyperhidrosis ORPHA:2400
Nocardiosis
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum... ORPHA:31204
Isovaleric Acidemia
Lethargy OMIM:243500
Chiari Malformation Type Ii
Cyanosis, Inspiratory stridor OMIM:207950
Spondyloenchondrodysplasia
Hypothyroidism, Pneumonia, Decreased response to growth hormone stimulation test ORPHA:1855
Cushing Disease
Plethora, Increased urinary cortisol level, Purpura, Adrenal hyperplasia, Dorsocervical fat pad, ... ORPHA:96253
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Cyanosis, Apnea, Hypospadias, Respiratory insufficiency, Respiratory failure, L... OMIM:252010
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Cardiorespiratory arrest OMIM:212138
Japanese Encephalitis
Respiratory distress, Irregular respiration, Focal T2 hyperintense thalamic lesion, Respiratory p... ORPHA:79139
Cirrhosis, Familial
Lethargy, Jaundice, Pulmonary arterial hypertension OMIM:215600
Congenital Tracheal Stenosis
Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu... ORPHA:141127
Congenital Disorder Of Glycosylation, Type Iit
Pineal cyst OMIM:618885
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7
Hypospadias, Decreased response to growth hormone stimulation test, Precocious puberty, Cryptorch... ORPHA:96182
Necrotizing Enterocolitis
Lethargy, Apnea ORPHA:391673
Mosaic Variegated Aneuploidy Syndrome 2
Hypothyroidism, Abnormal lung lobation, Decreased response to growth hormone stimulation test OMIM:614114
Leopard Syndrome 1
Hypospadias, Delayed menarche, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the ovary, Mic... OMIM:151100
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode ORPHA:284417
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Isolated Right Ventricular Hypoplasia
Hypoxemia, Dyspnea, Cyanosis ORPHA:439
Steinert Myotonic Dystrophy
Decreased response to growth hormone stimulation test, Non-medullary thyroid carcinoma, Male hypo... ORPHA:273
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, External genital hypoplasia ORPHA:329178
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia ORPHA:314655
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Hypoplasia of the uterus, Decreased response to growth hormone stimulation test, Delayed puberty OMIM:615866
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Hyperthyroidism, Primary amenorrhea, Increased circulating prolactin concentration, Depression ORPHA:502423
Bare Lymphocyte Syndrome, Type I
Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Lethargy OMIM:251110
Agnathia-Otocephaly Complex
Respiratory distress, Pulmonary hypoplasia, Tracheomalacia OMIM:202650
Biotinidase Deficiency
Lethargy, Tachypnea, Apnea OMIM:253260
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Hypospadias, Cryptorchidism, Jaundice, Death in adolescence, Hypoplastic nipple... OMIM:614866
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Cryptorchidism, Cyanosis ORPHA:3304
Histiocytosis-Lymphadenopathy Plus Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Azoospermi... OMIM:602782
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Cushing Syndrome Due To Ectopic Acth Secretion
Plethora, Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm ... ORPHA:99889
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Hyperthyroidism, Pneumonia, Abnormality o... ORPHA:37042
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Atrial Septal Defect, Ostium Secundum Type
Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,... ORPHA:99103
Biotinidase Deficiency
Respiratory distress, Lethargy, Apnea, Hyperventilation ORPHA:79241
Episodic Ataxia Type 1
Respiratory distress, Hyperhidrosis ORPHA:37612
Pycnodysostosis
Stridor, Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimu... ORPHA:763
African Trypanosomiasis
Abnormality of the menstrual cycle, Abnormality of the endocrine system, Abnormality of renin-ang... ORPHA:3385
Atrial Septal Defect, Coronary Sinus Type
Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous... ORPHA:99104
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter OMIM:620189
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Lethargy, Jaundice, Death in infancy OMIM:617156
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ... ORPHA:98915
Hsd10 Disease, Infantile Type
Cyanosis ORPHA:391428
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema, Facial erythema OMIM:618307
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Jaundice, Tachypnea OMIM:615751
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections OMIM:619383
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Pearson Marrow-Pancreas Syndrome
Pancreatic fibrosis, Erythema, Steatorrhea, Death in childhood, Type I diabetes mellitus, Letharg... OMIM:557000
Ethylene Glycol Poisoning
Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema ORPHA:31826
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy OMIM:611590
Maple Syrup Urine Disease
Lethargy, Pancreatitis OMIM:248600
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Fused labia majora, Decreased circulating cortisol level, Ambiguous genitalia, female, Abnormal o... ORPHA:90794
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Multinodular goiter OMIM:618373
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Unilateral breast hypoplasia, Abnormality... OMIM:300968
Acrootoocular Syndrome
Decreased response to growth hormone stimulation test ORPHA:2980
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Clitoral hypertrophy ORPHA:2707
Fucosidosis
Hypothyroidism, Acrocyanosis, Vascular skin abnormality, Hyperhidrosis ORPHA:349
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cyanosis, Apnea OMIM:619580
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Respiratory insufficiency OMIM:617260
Spondylodysplastic Ehlers-Danlos Syndrome
Prominent scalp veins, Agenesis of pineal gland, Cryptorchidism, Respiratory insufficiency, Restr... ORPHA:536471
Genitourinary And/Or Brain Malformation Syndrome
Streak ovary, Hypospadias, Cryptorchidism, Uterus didelphys, Gonadal dysgenesis, Urogenital sinus... OMIM:618820
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Hashimoto t... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Hashimoto t... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Hashimoto t... ORPHA:99226
Turner Syndrome
Premature ovarian insufficiency, High urinary gonadotropin level, Female infertility, Hashimoto t... ORPHA:881
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Ovarian cyst ORPHA:454840
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Abnormality of the pineal gland ORPHA:369950
Truncus Arteriosus
Cyanosis, Anomalous origin of one pulmonary artery from ascending aorta, Pulmonary artery stenosi... ORPHA:3384
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Lethargy OMIM:251100
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Lethargy, Erythema, Death in childhood OMIM:618321
Oromandibular Dystonia
Respiratory distress, Depression ORPHA:93958
Methylcobalamin Deficiency Type Cble
Lethargy ORPHA:2169
Double Outlet Left Ventricle
Cryptorchidism, Pulmonary artery stenosis, Cyanosis, Tachypnea ORPHA:3427
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Encephalitis Lethargica
Lethargy, Hyperventilation ORPHA:83600
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Hypohidrosis, Hyperhidrosis, Ectopic thyroid, Hypothyroidism ORPHA:3206
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension, Hypospadias OMIM:619272
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Recurrent respiratory infections, Cyanosis, Aortopulmonary window, Pulmonary hypoplasia, Pulmonar... ORPHA:99050
Diaphanospondylodysostosis
Respiratory distress, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency OMIM:608022
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Cocaine Intoxication
Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach... ORPHA:90068
Phace Association
Lingual thyroid, Congenital hypothyroidism OMIM:606519
Tarp Syndrome
Cryptorchidism, Cyanosis, Apnea, Pulmonary hypoplasia ORPHA:2886
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Glutaric Acidemia Type 3
Lethargy ORPHA:35706
Branchiootorenal Syndrome 1
Euthyroid goiter OMIM:113650
Glycerol Kinase Deficiency
Adrenocortical hypoplasia, Hypertriglyceridemia, Chronic pancreatitis, Cryptorchidism, Adrenal in... OMIM:307030
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Cryptorchidism, Hypoplastic labia minora, Micropenis, Hyp... OMIM:224690
Eec Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Xerostomia, Hypohidrosis, Hyp... ORPHA:1896
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency ORPHA:367
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Tracheomalacia OMIM:217980
Scimitar Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal lung morphology, Partial anomalo... ORPHA:185
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re... OMIM:617303
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res... ORPHA:537
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lethargy, Apnea ORPHA:395
Congenital Bilateral Absence Of Vas Deferens
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia ORPHA:48
Craniofaciofrontodigital Syndrome
Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar... ORPHA:363705
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
Ciliary Dyskinesia, Primary, 36, X-Linked
Male infertility OMIM:300991
Coccidioidomycosis
Respiratory distress, Abnormal sperm morphology, Pneumonia, Abnormality of the endocrine system, ... ORPHA:228123
Chand Syndrome
Atelectasis, Imperforate hymen, Hypohidrosis ORPHA:1401
Bardet-Biedl Syndrome 1
Diabetes mellitus, Nephrogenic diabetes insipidus, Abnormality of the ovary, Hypogonadism, Vagina... OMIM:209900
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood OMIM:620278
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Central adrenal insufficiency, Telangiectasia of the skin, Decreased response to growth hormone s... OMIM:616007
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy OMIM:237300
Ciliary Dyskinesia, Primary, 45
Male infertility OMIM:618801
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Pulmonary embolism, Jaundice, Pulmonary arterial hypertension, Lethargy ORPHA:79282
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy OMIM:201450
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema OMIM:261740
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Bifid scrotum, Prominent scrotal raphe ORPHA:1555
Charge Syndrome
Bifid scrotum, Hypogonadotropic hypogonadism, Cryptorchidism, Respiratory insufficiency, Micropen... ORPHA:138
Duplication Of The Pituitary Gland
Abnormal hypothalamus morphology, Abnormal pituitary gland morphology ORPHA:314621
Cryptococcosis
Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effus... ORPHA:1546
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating follicle stimulating hormone level, E... OMIM:617253
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus
Coiled sperm flagella, Short sperm flagella, Male infertility OMIM:620197
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Koolen-De Vries Syndrome Due To A Point Mutation
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Recurrent respiratory infections, Hypospadias, Decreased response to growth hormone stimulation t... ORPHA:363958
Neuroendocrine Neoplasm Of Appendix
Asthma, Ovarian neoplasm, Adrenocorticotropic hormone excess, Intestinal carcinoid, Increased ser... ORPHA:100079
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou... OMIM:187300
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Ovarian cyst, Hyperparathyroidism OMIM:618188
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary... ORPHA:3260
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Acrocyanosis OMIM:614407
Mgat2-Cdg
Abnormality of the endocrine system, Recurrent upper and lower respiratory tract infections, Hypo... ORPHA:79329
Myoectodermal Gonadal Dysgenesis Syndrome
Elevated circulating luteinizing hormone level, Hypoplasia of the uterus, Hypoplastic labia major... OMIM:618419
Achondroplasia
Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia OMIM:100800
Fanconi Renotubular Syndrome 5
Decreased DLCO, Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis ORPHA:36234
Adrenomyeloneuropathy
Primary adrenal insufficiency, Adrenocorticotropic hormone excess, Male sexual dysfunction, Adren... ORPHA:139399
Criss-Cross Heart
Cyanosis, Respiratory insufficiency ORPHA:1461
Alg9-Cdg
Bicornuate uterus, Hypoplastic nipples, Hypoplasia of the ovary ORPHA:79328
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Lethargy OMIM:607483
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Stridor OMIM:615595
Androgen Insensitivity, Partial
Bifid scrotum, Absent vas deferens, Cryptorchidism, Male pseudohermaphroditism, Perineal hypospad... OMIM:312300
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Ear-Patella-Short Stature Syndrome
Respiratory distress, Hypoplasia of penis, Hypospadias, Cryptorchidism, Dyspnea, Epispadias, Hypo... ORPHA:2554
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked
Male infertility, Azoospermia, Absent vas deferens OMIM:300985
Vas Deferens, Congenital Bilateral Aplasia Of
Male infertility, Azoospermia, Absent vas deferens OMIM:277180
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Respiratory insufficiency OMIM:617239
Holoprosencephaly 2
Adrenal hypoplasia, Diabetes insipidus, Anterior pituitary agenesis OMIM:157170
Ciliary Dyskinesia, Primary, 34
Male infertility, Immotile sperm OMIM:617091
Lymphatic Malformation 7
Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema OMIM:617300
Glycine Encephalopathy
Lethargy, Respiratory acidosis, Breathing dysregulation ORPHA:407
Monosomy 18Q
Bilateral cryptorchidism, Micropenis, Hypothyroidism, Secondary growth hormone deficiency ORPHA:1600
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Dyspnea, Pulmonary edema OMIM:115197
Arterial Tortuosity Syndrome
Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary... ORPHA:3342
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring OMIM:268320
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Hypospadias, Decreased response to growth hormone stimulation test, Asthma, Aspiration pneumonia,... ORPHA:444077
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Pulmonary fibrosis OMIM:612852
Congenital Enterovirus Infection
Respiratory distress, Pleural effusion ORPHA:292
Medulloblastoma
Neoplasm of the lung, Lethargy ORPHA:616
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Recurrent respiratory infections, Hypogonadotropic hypogonadism, Absence of Stensen duct, Decreas... OMIM:129900
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia OMIM:300952
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood OMIM:613848
Hereditary Angioedema Type 1
Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor ORPHA:100050
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent infections due to aspiration, Episodic hyperhidrosis, Decreased sensitivity to hypoxemi... OMIM:223900
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis ORPHA:990
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Micropenis, Hypoplasia of the ovary, Decreased testicular size OMIM:619321
Eisenmenger Syndrome
Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary... ORPHA:97214
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Q Fever
Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus... ORPHA:781
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Supernumerary nipple, Decreased response to growth hormone stimulation test, Recurrent sinusitis,... OMIM:213980
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Secondary amenorrhea, Pineal cyst ORPHA:529962
Autosomal Dominant Kenny-Caffey Syndrome
Congenital hypoparathyroidism, Decreased testicular size, Abnormal circulating follicle-stimulati... ORPHA:93325
Cutis Laxa, Autosomal Dominant 1
Prematurely aged appearance, Progeroid facial appearance, Poor wound healing, Dyspnea, Bronchiect... OMIM:123700
Hartsfield Syndrome
Hypospadias, Cryptorchidism, Gonadotropin deficiency, Micropenis, Diabetes insipidus OMIM:615465
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Anhidrosis, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands,... OMIM:305100
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Recurrent pneumonia OMIM:616271
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Bifid scrotum, Hypospadias, Hypoplastic labia majora, Palmoplantar cutis la... OMIM:123790
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Lethargy OMIM:277380
Dermatomyositis
Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters... ORPHA:221
Ciliary Dyskinesia, Primary, 9
Male infertility OMIM:612444
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Male infertility OMIM:618948
Primary Dystonia, Dyt4 Type
Respiratory distress ORPHA:98805
Fabry Disease
Conjunctival telangiectasia, Telangiectasia of the skin, Angiokeratoma, Dyspnea, Hyperlipidemia, ... ORPHA:324
Sarcoidosis, Susceptibility To, 1
Cough, Dyspnea, Enlarged lacrimal glands, Bronchiectasis, Abnormal pulmonary interstitial morphol... OMIM:181000
Apparent Mineralocorticoid Excess
Decreased circulating aldosterone level, Abnormality of circulating cortisol level, Decreased cir... ORPHA:320
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Micropenis, Acrocyanosis, Abnormal pattern of respiration, ... ORPHA:2896
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation ORPHA:268943
Hereditary Amyloidosis With Primary Renal Involvement
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... ORPHA:85450
Hereditary Fructose Intolerance
Episodic hyperhidrosis, Jaundice, Lethargy ORPHA:469
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Phace Syndrome
Hypothyroidism, Ectopic thyroid ORPHA:42775
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Hyperhidrosis, Respiratory failure, Cough, E... ORPHA:340
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress OMIM:271225
Exercise-Induced Malignant Hyperthermia
Anhidrosis, Crackles, Tachypnea, Hypocapnia, Lethargy, Flushing ORPHA:466650
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Maternal diabetes, Hyperhidrosis, Diabetic ketoac... ORPHA:358
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Female hypogonadism, Decreased serum leptin, Upper... ORPHA:740
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Annular pancreas, Pulmonary arterial hypertension ORPHA:210122
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hypospadias, Decreased response to growth hormone stimulation test, Premature thelarche, Abnormal... ORPHA:268261
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:274150
Infantile Krabbe Disease
Respiratory distress, Respiratory failure ORPHA:206436
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Lethargy OMIM:277410
Pearson Syndrome
Hypoparathyroidism, Diabetes mellitus, Pancreatic fibrosis, Decreased response to growth hormone ... ORPHA:699
Lmna-Related Cardiocutaneous Progeria Syndrome
Hypertriglyceridemia, Emphysema, Pulmonary carcinoid tumor, Premature graying of hair, Hyperchole... ORPHA:363618
Ciliary Dyskinesia, Primary, 14
Male infertility, Reduced sperm motility, Immotile sperm OMIM:613807
Ciliary Dyskinesia, Primary, 18
Male infertility, Immotile sperm OMIM:614874
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Hypogonadotropic ... OMIM:604292
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Lethargy, Tachypnea ORPHA:415
Aortic Arch Interruption
Respiratory distress, Cyanosis, Tachypnea, Aortopulmonary window, Exertional dyspnea ORPHA:2299
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Marburg Hemorrhagic Fever
Orchitis, Nonproductive cough, Jaundice, Lethargy, Bruising susceptibility, Pancreatitis, Petechiae ORPHA:99826
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ... OMIM:610655
Structural Heart Defects And Renal Anomalies Syndrome
Partial anomalous pulmonary venous return, Cyanosis, Death in infancy OMIM:617478
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Diabetes mellitus, Chronic pancreatitis, Pineal cyst ORPHA:98908
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis ORPHA:488627
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Steatorrhea, Exocrine pancreatic insufficiency OMIM:260400
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress OMIM:612863
Pachyonychia Congenita
Respiratory distress, Palmoplantar hyperhidrosis ORPHA:2309
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy ORPHA:79284
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Recurrent respiratory infections, Apnea, Hypospadias, Hyperhidrosis ORPHA:17
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Hyperhidrosis, Aspiration, Flushing ORPHA:2131
Charge Syndrome
Hypoparathyroidism, Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulati... OMIM:214800
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Pleural effusion, Pulmonary hypoplasia OMIM:620369
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Abnormal penis morphology, Hypospadias, Dyspnea, Epispadias, Erythema, Male... ORPHA:2556
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,... OMIM:600376
Peters Plus Syndrome
Hypospadias, Cryptorchidism, Congenital hypothyroidism, Hypoplasia of the uterus, Abnormal pulmon... ORPHA:709
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Xerostomia, Enlargement of parotid gland, Nodular goiter, ... ORPHA:79078
Eosinophilic Fasciitis
Acrocyanosis ORPHA:3165
Helsmoortel-Van Der Aa Syndrome
Cryptorchidism, Recurrent respiratory infections, Decreased response to growth hormone stimulatio... OMIM:615873
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,... ORPHA:505248
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Lethargy OMIM:210210
Heterotaxy, Visceral, 7, Autosomal
Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous... OMIM:616749
Fanconi Anemia, Complementation Group A
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism OMIM:227650
Oculopharyngodistal Myopathy 1
Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t... OMIM:164310
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:99125
Schinzel-Giedion Syndrome
Streak ovary, Hypospadias, Central hypothyroidism, Micropenis, Annular pancreas ORPHA:798
Familial Dysautonomia
Recurrent respiratory infections, Abnormal pleura morphology, Hypohidrosis, Hyperhidrosis, Acrocy... ORPHA:1764
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Apnea, Breathing dysregulation, Abnormality of the endocrine system, Precocious ... ORPHA:438213
Transcobalamin Ii Deficiency
Lethargy OMIM:275350
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Microphthalmia, Syndromic 6
Small scrotum, Female hypogonadism, Adrenal hypoplasia, Cryptorchidism, Anterior hypopituitarism,... OMIM:607932
Adnp Syndrome
Respiratory distress, Cryptorchidism, Recurrent upper respiratory tract infections, Aspiration ORPHA:404448
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect OMIM:183900
Oculoectodermal Syndrome
Supernumerary nipple, Pineal cyst OMIM:600268
Wiedemann-Steiner Syndrome
Decreased response to growth hormone stimulation test ORPHA:319182
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress ORPHA:438216
Trichinellosis
Lethargy, Apathy ORPHA:863
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Lethargy OMIM:277400
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Aspiration OMIM:618733
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return OMIM:306955
Holoprosencephaly 7
Fusion of the left and right thalami, Panhypopituitarism OMIM:610828
Igg4-Related Ophthalmic Disease
Sinusitis, Orchitis, Abnormal lung morphology, Abnormality of the anterior pituitary, Enlarged la... ORPHA:449563
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure ORPHA:533
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
Ulbright-Hodes Syndrome
Respiratory distress, Abnormal penis morphology, Abnormal external genitalia, Enlarged labia mino... ORPHA:3404
Alström Syndrome
Respiratory distress, Decreased response to growth hormone stimulation test, Elevated circulating... ORPHA:64
Ehlers-Danlos Syndrome, Vascular Type
Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth... OMIM:130050
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Recurrent upper respirat... OMIM:114290
Kasabach-Merritt Syndrome
Respiratory distress, Hyperhidrosis, Hypopnea, Petechiae, Purpura ORPHA:2330
Cardiac Valvular Dysplasia 2
Central cyanosis, Pulmonary artery dilatation OMIM:620067
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Prominent scalp veins, Hyperthyroidism, Hypogonadotropic hyp... ORPHA:3455
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Abnormal penis morpholo... ORPHA:95455
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Auriculocondylar Syndrome
Respiratory distress ORPHA:137888
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Lethargy OMIM:201470
Paroxysmal Nocturnal Hemoglobinuria
Pulmonary embolism, Dyspnea, Jaundice, Impotence, Lethargy ORPHA:447
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Vasculitis in the skin, Acrocyanosis, Rec... ORPHA:48435
Posterior Urethral Valve
Lethargy ORPHA:93110
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Biliary hyperplasia, Cryptorchidism, Pulmonary hypoplasia, Cholelithiasis, ... ORPHA:83617
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin ORPHA:79404
Common Variable Immunodeficiency
Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph... ORPHA:1572
Pineoblastoma
Lethargy, Pinealoma ORPHA:251909
Ciliary Dyskinesia, Primary, 19
Male infertility OMIM:614935
Osteoglophonic Dysplasia
Respiratory distress, Cryptorchidism, Chordee, Hypospadias OMIM:166250
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Jaundice, Prolonged neonatal jaundice OMIM:256810
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Tracheomalacia, Pineal cyst ORPHA:513456
Citrullinemia, Classic
Lethargy OMIM:215700
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia ORPHA:1051
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hypospadias, Premature thelarche, Respiratory tract infection, Bilateral cr... OMIM:180849
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Anhidrosis, Hyperhidrosis OMIM:615273
Arboleda-Tham Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Bilateral ... OMIM:616268
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Lethargy OMIM:311250
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Delayed puberty, Pineal cyst OMIM:300967
Aicardi-Goutières Syndrome
Diabetes mellitus, Cutis marmorata, Prolonged neonatal jaundice, Micropenis, Acrocyanosis, Hypoth... ORPHA:51
Bloom Syndrome
Male infertility, Diabetes mellitus, Premature ovarian insufficiency, Oligozoospermia, Azoospermia ORPHA:125
Gabriele-De Vries Syndrome
Cryptorchidism, Hypothyroidism, Decreased response to growth hormone stimulation test, Breast hyp... ORPHA:506358
Argininosuccinic Aciduria
Lethargy OMIM:207900
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest ORPHA:31824
Sarcoidosis
Hyperthyroidism, Diabetes insipidus, Abnormal pleura morphology, Abnormal reproductive system mor... ORPHA:797
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Congenital hypothyroidism, Aspiration pneumonia, Ambig... ORPHA:79500
Kufor-Rakeb Syndrome
Bradykinesia, Lethargy, Apathy ORPHA:306674
Mitochondrial Dna-Associated Leigh Syndrome
Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation ORPHA:255210
Diamond-Blackfan Anemia
Lethargy, Hypospadias ORPHA:124
Axenfeld-Rieger Syndrome, Type 1
Hypospadias, Decreased response to growth hormone stimulation test OMIM:180500
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility
Male infertility OMIM:619607
Generalized Arterial Calcification Of Infancy
Respiratory distress, Cyanosis, Adrenal calcification, Pulmonary arterial hypertension, Pancreati... ORPHA:51608
Pmm2-Cdg
Respiratory distress, Hypogonadotropic hypogonadism, Elevated circulating growth hormone concentr... ORPHA:79318
Fructose Intolerance, Hereditary
Lethargy, Jaundice OMIM:229600
Igg4-Related Kidney Disease
Abnormal lung morphology, Abnormality of the anterior pituitary, Thyroiditis, Interstitial pneumo... ORPHA:449395
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Abnormal circulating thyroid hormone concentration, Cyst of the ductus chol... ORPHA:480880
Cystinosis, Nephropathic
Male infertility, Diabetes mellitus, Hypohidrosis, Primary hypothyroidism, Delayed puberty, Male ... OMIM:219800
Leptospirosis
Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage ORPHA:509
Witteveen-Kolk Syndrome
Unilateral cryptorchidism, Decreased response to growth hormone stimulation test, Hypospadias, Ph... OMIM:613406
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Hypermobile Ehlers-Danlos Syndrome
Apnea, Abnormality of the menstrual cycle, Cystocele, Decreased fertility, Depression, Acrocyanosis ORPHA:285
Isolated Arrhinia
Respiratory distress ORPHA:1134
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Asthma, Nasal flaring ORPHA:466943
Cardiac Valvular Dysplasia 1
Pulmonary artery atresia, Cyanosis OMIM:212093
Plague
Acute infectious pneumonia, Respiratory distress, Depression ORPHA:707
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Hydrometrocolpos, Vaginal atresia OMIM:617088
Classical Ehlers-Danlos Syndrome
Prematurely aged appearance, Poor wound healing, Cervical insufficiency, Uterine prolapse, Ecchym... ORPHA:287
Hyperoxaluria, Primary, Type I
Acrocyanosis, Cutis marmorata OMIM:259900
Noonan Syndrome 1
Hypogonadism, Cryptorchidism, Hypospadias, Male infertility OMIM:163950
Primary Hyperoxaluria
Acrocyanosis, Cutis marmorata ORPHA:416
Congenitally Corrected Transposition Of The Great Arteries
Pulmonary artery atresia, Cyanosis ORPHA:216694
Coffin-Lowry Syndrome
Uterine prolapse, Acrocyanosis, Cutis marmorata OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Recurrent pneumonia ORPHA:99646
Cystic Fibrosis
Male infertility, Pancreatitis, Exocrine pancreatic insufficiency OMIM:219700

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 Prop1

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 Prop1.

No publications found that use IMPC mice or data for Prop1.

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MGI Allele Allele Type Produced
Prop1tm171676(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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